Category Archives: Molecular Genetics

Covid-19

With investigations into a coolstore and freight as a potential pathway for the latest outbreak of Covid-19, whatdoes science say about surfaces and refrigeration?

Surfaces at a Mount Wellington coolstore are being tested for Covid-19 in an effort to uncover the route of the virus back into the community.

A worker at the coolstore has tested positive for the disease. How he caught it is still a mystery. The possibility it could have come in on overseas freight arriving at the coolstore is being investigated.

Were not ruling that out, said Director-General of Health Ashley Bloomfield, We want to get to the bottom of that.

The coolstore environment has been swabbed and test results are expected back today.

Yesterday, three other workers from the coolstore returned positive tests for Covid-19.

It's possible the workers were either infected by contaminated goods, or the virus was brought into the workplace after it was caught elsewhere, possibly by the man who was first diagnosed.

Two branches of the coolstore have been closed. One in Mount Wellington, where the man worked, and another close to Auckland Airport.

Genomic sequencing is still underway, but as of yesterday afternoon there hasnt been a link between genome patterns of cases in border quarantine and the genome pattern of the coolstore-related cases.

University of Auckland professor Shaun Hendy said the fact the source of the outbreak hadnt been identified yet wasconcerning.

To date, the genomic information suggests this cluster is not linked to a managed isolation and quarantine facility. The business itself is linked to international freight, air and sea, which does suggest that this is a possible entry route, whether via packaging, or more likely, via person-to-person.

Like many things Covid-19 related, the science of transmission isnt clear-cut;what studies have been done are often laboratory-based.

Surface transmission is considered a lower risk for virus transmission than person-to-person contact but cold environments, such as meat works, have been at the centre of overseas clusters.

Cant touch this

New Zealands news came as China has again claimed it has found the virus on the outer packaging of frozen prawns imported from Ecuador.

Chinas state television said it was found during a routine inspection of a restaurant in Wuhu city.

Its not the first report of this in China. Since July, several other Chinese cities have also reported cases, including the port cities of Xiamen and Dalian leading to imports from three suppliers being suspended.

After nucleic acid sequence analysis and expert judgment, the test results suggested that the container environment and the outer packaging of the goods of the three companies were at risk of contamination by the new coronavirus, and the companies food safety management system was not in order, the General Administration of Customs said in a statement.

The director of the organisation, Bi Kexi, told reporters: "Experts believe that the results do not mean they are contagious but that the companies' food safety management systems are not well implemented," Bi Kexin, director General Administration of Customs said.

For international packaging to be the cause of this outbreak, a chain of events would need to have taken place. Enough of the virus landing - on packaging - perhaps through a person coughing droplets onto a surface - would be the first step. The droplets would need to remain viable throughout the journey to the New Zealand coolstore.

Then the virus on the packaging would need to find a pathway to a person, possibly through someone touching the package and then touching their face.

Studies have been done on how long the virus survives on different surfaces. Traces of the virus were detected on plastic and steel up to three days after contamination and on cardboard for up to one day.

In chilled conditions, the virus can survive longer. One study looking at the survival time of the virus in a test tube found at 4C, the virus survived for 14 days. At 37Cit lasted just one day.

The other factor is the amount of virus on a surface. A recent letter published in The Lancet suggests the risk of surface transmission has been exaggerated.

None of these studies present scenarios akin to real life situations, the letter said. The Rutgers University professor of microbiology, biochemistry and molecular genetics Emanuel Goldmans issue was that in real life the amount of virus would likely be several orders of magnitude smaller.

While saying he believed in erring on the side of caution, he thought the risk was low.

In my opinion, the chance of transmission through inanimate surfaces is very small, and only in instances where an infected person coughs or sneezes on the surface, and someone else touches that surface soon after the cough or sneeze (within one -two hours).

While the risk is considered low, its still a possibility.

In a Chinese mall, several people caught the virus in January despite not being in direct contact with the one person at the mall who was known to have it. A restroom and elevator buttons were considered to be places where these people may have touched contaminated surfaces.

Covid and chill

Cold work environments have been at the centre of outbreaks. The exact reasons why arent clear, although theres plenty of speculation.

In the US 17,358 cases of coronavirus were recorded from meat and poultry factory workers.

An abattoir in Germany was closed after 1500 workers were infected and in Melbourne at least three abattoirs were closed after outbreaks occurred. Abattoir-related outbreaks have also occurred in the United Kingdom, France, Brazil, Denmark and the Netherlands.

There are a few factors likely to be at play and theyre not related to dead animals.

Physical distancing on a production line can be hard as often people work shoulder-to-shoulder.Shifts are long, and casualised employment can make people less likely to stay home when ill because they cant afford time off.

Background noise can mean shouting is needed to communicate, increasing the risk of droplet spread. Air filtration systems push air around, potentially spreading droplets further.

No sunlight and cold conditions extend the life of the virus.

The conditions at the New Zealand coolstore where cases have emerged may not be identical to overseas abattoirs, but there's a chance cold may play a role in giving any virus in the environment a chance to live longer.

Follow this link:
Cold temperatures are where Covid thrives - Newsroom

Teachers have every right to be optimistic and enthusiastic about their students achievements.

But that does not mean that they should be allowed, as they have in Scotland, to inflate predicted A Level and GCSE grades when there is no evidence to suggest there has been a dramatic improvement in academic standards.

According to recent analysis by the exams regulator Ofqual, teachers in England have bumped-up predicted A Level marks by 12 per cent on average and GCSE marks by 9 per cent.

No doubt this is borne of good intentions and pride for pupils abilities. But if grades are not adjusted to bring them into line with previous years results, there will be a whole range of unintended consequences.

Most obviously it would discriminate against children who sat exams last year and earlier, who would have performed the same as this years cohort but received worse grades.

But it would also be extremely unfair to students who will sit exams next year when, hopefully, schools will have returned to normal.

They would be doubly penalised, as they already face the disadvantage of having lost months of classroom teaching because of the disruption caused by coronavirus.

It is understandable if the U turn by Nicola Sturgeon brings joy to students whose predicted grades had been marked down. But what about the Scottish students who sat these exams last year?

Relatively speaking they have now all been marked down. The same will apply to Scots students who take these exams next year. Unless Miss Sturgeon artificially inflates their exam grades they will have right to feel equally aggrieved.

This decision may bring Miss Sturgeon short term popularity I suspect it is no coincidence she faces an election next year.

As is often the case with political decisions that bring short term popularity it may not be a good idea in the long term. I hope Boris Johnson does not fall into the same trap.

Crucially, there is no evidence to suggest that controlling grade inflation will increase the attainment gap between children from poorer backgrounds and those who are more fortunate, or that bright children from poor performing schools will be adversely affected.

In fact the reverse is true: the Government has already made major strides in addressing this problem through a wide range of interventions starting from the age of three.

And where there is genuine evidence that grades have been marked down for pupils at a school where standards have increased in the last year because of improved teaching, or it has recently become an academy, this will be taken into account in appeals.

Meanwhile claims that many pupils will see A Level results drastically downgraded as much as from A grade to D are wide of the mark.

Invariably, the adjusted results will be only dropped one grade where the teachers have ranked them towards the bottom of the higher grade range.

Of course, children who fall short of the grades they needed for university are bound to be disappointed but they need not lose hope.

A big drop in overseas students caused by the pandemic means that there will be more places available than usual through the clearing process.

(I might add university Vice-Chancellors need all the 9,000 a year tuition fees they can get to bolster their astronomic salaries.)

And it should be remembered there is nothing new about students falling short of the grades they need. My own daughter had to resit her Maths A Level to get into her molecular genetics course.

We have now offered schools free resits in the Autumn and also given the school the possibility of appealing a students grad on the basis of the mock exam.

Ultimately, the Governments overriding objective has been to ensure that students receive qualifications this summer which have the same value as in any other year and which will enable them to move on successfully to the next stage of their lives be that college, university or an apprenticeship in the workplace.

This process will deliver that.

The rest is here:
It would be unfair to adjust A Level and GCSE grades, says Scarborough and Whitby MP Robert Goodwill - Whitby Gazette

This story was originally published on Newsroom.co.nz and is republished with permission

With investigations into a coolstore and freight as a potential pathway for the latest outbreak of Covid-19, what does science say about surfaces and refrigeration?

Surfaces at a Mount Wellington coolstore are being tested for Covid-19 in an effort to uncover the route of the virus back into the community.

Ryan Anderson/Stuff

Americold in Mount Wellington, Auckland, where a south Auckland man with coronavirus works.

A worker at the coolstore has tested positive for the disease. How he caught it is still a mystery. The possibility it could have come in on overseas freight arriving at the coolstore is being investigated.

Were not ruling that out, said Director-General of Health Ashley Bloomfield, We want to get to the bottom of that.

READ MORE:* Coronavirus: Extension to Covid-19 lockdown likely, says disease modelling expert* Coronavirus: Rapid 'cluster busting' to find Covid-19 outbreak source could nip other clusters in the bud* Coronavirus: Auckland cool storage facility tested over concern Covid-19 entered NZ via freight* Coronavirus: Aucklanders should be wearing masks, experts say

The coolstore environment has been swabbed and test results are expected back today.

Yesterday, three other workers from the coolstore returned positive tests for Covid-19.

It's possible the workers were either infected by contaminated goods, or the virus was brought into the workplace after it was caught elsewhere, possibly by the man who was first diagnosed.

Two branches of the coolstore have been closed. One in Mount Wellington, where the man worked, and another close to Auckland Airport.

Genomic sequencing is still underway, but as of yesterday afternoon there hasnt been a link between genome patterns of cases in border quarantine and the genome pattern of the coolstore-related cases.

University of Auckland professor Shaun Hendy said the fact the source of the outbreak hadnt been identified yet was concerning.

MYTCHALL BRANSGROVE/STUFF

Tests are still ongoing to trace the pandemics source.

To date, the genomic information suggests this cluster is not linked to a managed isolation and quarantine facility. The business itself is linked to international freight, air and sea, which does suggest that this is a possible entry route, whether via packaging, or more likely, via person-to-person.

Like many things Covid-19 related, the science of transmission isnt clear-cut; what studies have been done are often laboratory-based.

Surface transmission is considered a lower risk for virus transmission than person-to-person contact but cold environments, such as meat works, have been at the centre of overseas clusters.

Cant touch this

New Zealands news came as China has again claimed it has found the virus on the outer packaging of frozen prawns imported from Ecuador.

Chinas state television said it was found during a routine inspection of a restaurant in Wuhu city.

Its not the first report of this in China. Since July, several other Chinese cities have also reported cases, including the port cities of Xiamen and Dalian leading to imports from three suppliers being suspended.

After nucleic acid sequence analysis and expert judgment, the test results suggested that the container environment and the outer packaging of the goods of the three companies were at risk of contamination by the new coronavirus, and the companies food safety management system was not in order, the General Administration of Customs said in a statement.

The director of the organisation, Bi Kexi, told reporters: "Experts believe that the results do not mean they are contagious but that the companies' food safety management systems are not well implemented," Bi Kexin, director General Administration of Customs said.

For international packaging to be the cause of this outbreak, a chain of events would need to have taken place. Enough of the virus landing - on packaging - perhaps through a person coughing droplets onto a surface - would be the first step. The droplets would need to remain viable throughout the journey to the New Zealand coolstore.

Then the virus on the packaging would need to find a pathway to a person, possibly through someone touching the package and then touching their face.

Studies have been done on how long the virus survives on different surfaces. Traces of the virus were detected on plastic and steel up to three days after contamination and on cardboard for up to one day.

In chilled conditions, the virus can survive longer. One study looking at the survival time of the virus in a test tube found at 4C, the virus survived for 14 days. At 37C it lasted just one day.

The other factor is the amount of virus on a surface. A recent letter published in The Lancet suggests the risk of surface transmission has been exaggerated.

None of these studies present scenarios akin to real life situations, the letter said.

The Rutgers University professor of microbiology, biochemistry and molecular genetics Emanuel Goldmans issue was that in real life the amount of virus would likely be several orders of magnitude smaller.

While saying he believed in erring on the side of caution, he thought the risk was low.

In my opinion, the chance of transmission through inanimate surfaces is very small, and only in instances where an infected person coughs or sneezes on the surface, and someone else touches that surface soon after the cough or sneeze (within one - two hours).

While the risk is considered low, its still a possibility.

In a Chinese mall, several people caught the virus in January despite not being in direct contact with the one person at the mall who was known to have it. A restroom and elevator buttons were considered to be places where these people may have touched contaminated surfaces.

Covid and chill

Cold work environments have been at the centre of outbreaks. The exact reasons why arent clear, although theres plenty of speculation.

In the US 17,358 cases of coronavirus were recorded from meat and poultry factory workers.

An abattoir in Germany was closed after 1500 workers were infected and in Melbourne at least three abattoirs were closed after outbreaks occurred. Abattoir-related outbreaks have also occurred in the United Kingdom, France, Brazil, Denmark and the Netherlands.

There are a few factors likely to be at play and theyre not related to dead animals.

Physical distancing on a production line can be hard as often people work shoulder-to-shoulder. Shifts are long, and casualised employment can make people less likely to stay home when ill because they cant afford time off.

Background noise can mean shouting is needed to communicate, increasing the risk of droplet spread. Air filtration systems push air around, potentially spreading droplets further.

No sunlight and cold conditions extend the life of the virus.

The conditions at the New Zealand coolstore where cases have emerged may not be identical to overseas abattoirs, but there's a chance cold may play a role in giving any virus in the environment a chance to live longer.

This story was originally published on Newsroom.co.nz and is republished with permission

Read this article:
Coronavirus: Cold temperatures are where Covid-19 thrives - Stuff.co.nz

BETHESDA, Md., July 8, 2020 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) announced today that the 2019 Journal Impact Factors, published by Clarivate Analytics in the latest edition of Journal Citation Reports, calculated an impact factor of 8.904 for ACMG's official journal, Genetics in Medicine (GIM). This is the second highest Impact Factor in the journal's history and ranks GIM 13th of 177 titles in the Genetics & Heredity category.

The Impact Factor is an objective measure of the world's leading journals, based on articles' cited references and is oft considered a measure of a journal's impact, overall successful performance and relevance to its field. The most highly cited article in GIM in 2019 was "Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2016 Update (ACMG SF v2.0): A Policy Statement of the American College of Medical Genetics and Genomics."

"GIM's editors and editorial staff are delighted that our Impact Factor has increased from last year. This improvement in the Impact Factor once again demonstrates that the journal remains one of the most widely read and cited journals publishing clinically relevant research in the life sciences," said GIM's Editor-in-Chief Robert D. Steiner, MD, FAAP, FACMG."We are most thankful to the peer reviewers who put in countless hours to help maintain the outstanding quality of articles and the authors who trust us to disseminate their groundbreaking scholarly work. The Impact Factor is one of a number of metrics used to evaluate journals, and a journal should not be evaluated solely on that one metric. Genetics in Medicine'scontinued success and relevance is also reflected in our very high overall downloads and reads as well as a prominent social media presence."

ACMG CEO Maximilian Muenke, MD, FACMG said, "As the CEO of the ACMG, I am extremely proud of 'our' journal. As a physician-scientist who before joining ACMG worked in academic settings where publishing in high-impact factor journals was the goal, I am well aware of the importance of this metric. My congratulations and gratitude on increasing GIM's impact factor go to Bob Steiner, Jan Higgins, the GIM staff and the entire editorial team to make this success happen!"

Genetics in Medicineis published by Springer Nature. The journal, published since 1998, is supported by an expert board of editors representing all facets of genetic and genomic medicine, including biochemical and molecular genetics, cytogenetics, and the application of genetics and genomics to other medical specialties such as oncology, cardiology, neurology, pediatrics, ophthalmology and maternal-fetal medicine.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBA[emailprotected]

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

Read more here:
ACMG's Genetics in Medicine Journal Receives Impact Factor of 8.904 for 2019--Journal is Ranked 13th of 177 Journals in Genetics & Heredity -...

National Institutes of Health (NIH) Director Francis Collins, M.D., Ph.D., announced selection of Richard (Rick) Woychik, Ph.D., to serve as director of NIEHS. Woychik was acting director of NIEHS from October 2019 until June 7, the official start of his new role.

Innovation has been a hallmark of Ricks scientific career and its at the center of his vision for leading NIEHS, said Collins. He will be working to support new technologies and scientific approaches throughout the field of environmental health sciences applying his proven skills in scientific excellence, creativity, and rigor to improving public health.

As NIEHS director, Woychik takes on additional responsibility as director of the National Toxicology Program (NTP), which reports directly to the U.S. Department of Health and Human Services. NTP coordinates toxicology research among NIEHS, the National Center for Toxicological Research at the U.S. Food and Drug Administration, and the National Institute for Occupational Safety and Health at the Centers for Disease Control and Prevention.

Woychik is highly respected for a long list of accomplishments in environmental epigenetics and mammalian genetics. His laboratory discovered that mutations in a gene that codes for a protein in a class called protocadherins interfered with mammalian hearing. This gene was ultimately linked to hearing loss in Cushings disease patients.

Other firsts included identifying a gene associated with polycystic kidney disease, and the first cloning of an obesity-related gene called agouti. Woychiks passion for epigenetics and environmental health sciences is rooted in his research groups discovery that the obesity trait associated with an agouti mutant mouse line was influenced during embryonic development by the epigenome.

Woychik said he will explore opportunities to embrace new technologies and implement state-of-the-art and potentially transformative scientific approaches for the NIEHS research enterprise. I am particularly interested in better integrating environmental health sciences into the All of Us Research Program and Precision Medicine programs at NIH, he wrote in an email to employees.

He added that achieving insights into the molecular mechanisms of toxicity and other physical responses to environmental exposures will be fundamental to improving risk assessments of human health impacts.

Individuals, with their unique biological make-up, respond to the environment in different ways. Our current research strategies mostly employ a one-size-fits-all approach that does not factor in this critically important variable, Woychik explained. One important element of my vision for the institute is to deal with individual genetic, epigenetic, and biological variability when establishing research strategies for studying public health and environmental toxicology.

Woychik earned his Ph.D. in molecular biology in 1984 from Case Western Reserve University in Cleveland. He moved into the field of molecular genetics during postdoctoral training in the lab of the late Philip Leder, M.D., in Harvard Medical School Department of Genetics.

In 2010, he moved to NIEHS in the role of deputy director, bringing basic science expertise in using genetics and epigenetics to study the influence of the environment. Woychik successfully led strategic planning exercises and guided implementation across a broad range of scientific disciplines. In nearly a decade of leadership at NIEHS, he built an in-depth awareness of and appreciation for the broad range of scientific activities such as toxicology, epidemiology, and more that are necessary to effectively support the environmental health sciences community.

That experience contributes to the wealth of knowledge he brings to his new role. Prior to NIEHS, Woychik served nearly 10 years as president and CEO of The Jackson Laboratory in Bar Harbor, Maine, where he established a robust record of achievements.

Citations:Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP. 2001. The mouse Ames waltzer hearing-loss mutant is caused by mutation ofPcdh15, a novel protocadherin gene. Nat Genet. 27:99102.

Bultman SJ, Michaud EJ, Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):11951204.

Moyer JM, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP. 1994. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 264:13291333.

(Christine Bruske Flowers is director of the NIEHS Office of Communications and Public Liaison.)

Read the original post:
July 2020: New NIEHS Director Rick Woychik will lead with innovation - Environmental Factor Newsletter

Nothing keeps Mackenzie Postel down. Not even when shes lying in a hospital bed recovering from surgery to fix her wayward kneecap.

Postel with the Fight On spirit post-op.

A while back, I had received an invitation to audition for the show The Voice, she says. While sitting in my hospital bed post-knee surgery, I received an email saying: Dont forget your virtual audition for The Voice is tomorrow! The next day, an amazing Keck Hospital PT and OT were helping me to stand up, climb stairs, get back to basics. I mentioned the email I had received from The Voice to them in passing and, the next thing I knew, they were helping me to get dressed, and I ended up auditioning for the show remotely from my hospital room, in my fashionable leg brace and high fall risk socks!

The close of Postels third year as an MD/PhD candidate at the Keck School of Medicine has been a whirlwind: In late April she received the Rockwell Dennis Hunt Award (an honor given annually to one USC grad student who is an alumnus and who is most representative of the Universitys traditions and objectives). Not long after, Postel (pronounced post-EL) underwent a tibial tubercle osteotomy, cadaver MPFL grafting, and trochleoplasty all performed by Dr. George Hatch at Keck Orthopaedic Surgery to realign her kneecap after a series of dislocations.

Even as an inpatient at Keck Hospital, Mackenzie insisted upon fighting on! and pursuing her love of music, which has been as important a part of her life as a Trojan as her academic work. In fact, she sees music and the instruction at the Keck School of Medicine as inextricably linked, as medicine is both an art and a science.

While we wait for the word on that audition, we talked with her about what shes achievedso far at USC, and what comes next:

Keck School: You received a Bachelor of Science degree in biology at USC, then a Master of Science in Molecular Genetics & Biochemistry. Now youre pursuing both an MD and a PhD in Cancer Biology & Genomics. What area do you want to specialize in?

Mackenzie Postel: Ive always loved research. High school (Marlborough School in L.A.) was where my research interest was sparked shout out to Dr. Elizabeth Ashforth for stoking my interest in research as early as 9th grade, and for serving as a wonderful role model for me as a woman in STEM. I worked in a lab at UCLA where we engineered heart tissue with stem cells. Ive always been a fan of multidisciplinary approaches to problems. So, in college and for my masters degree (both at USC), I had the amazing opportunity to combine biological and archaeological research through the analysis of ancient Egyptian mummy tissue. It was amazing to learn about ancient human health. And now, in USCs MD/PhD program, my research focus is translational genomics and precision medicine for cancer patients. Cancer isnt a one-size-fits-all type of problem every tumor is different, even between two individuals with the same cancer type and Im excited by all of the novel, tailored immunotherapies becoming available to patients. Im particularly grateful to have the opportunity to be involved in addressing cancer disparities and studying cancer in the diverse population of Los Angeles.

KS: How long have you been a student at USC?

Mackenzie: Oh, gosh, lets see. I have been at USC since 2011. Ive just finished the first year of my PhD, so I have many years ahead of me. Looking ahead to my residency, I would like to stay in LA. My dream is to be like Dr. [Donna] Elliott a quadruple Trojan herself! and to wear as many hats as possible. Id love to be a physician, a researcher, a professor, and a dean. I think it would be really cool to give back and be involved in teaching the next generation of medical professionals.

KS: How important is singing and music to you?

Mackenzie: I think music has been a part of my life since I was born! My grandma, Lois Darr, is a concert pianist; she still performs today, at 87 years old. Growing up I was surrounded by music. All of the women in my family are artists screenwriters, painters, musicians. And all of the men are the scientists and the physicians [her father, Dr. Joachim Postel, is a cardiothoracic surgeon at UCLA]. My family always says Im the first to combine both the arts and the sciences. And Ive always thought of music, itself, as form of medicine.

During my first years of medical school at Keck, I had the really amazing opportunity to serve as the president of the acapella club and of Keck Music Society [KMS]. Im eternally grateful to Dr. Pamela Schaff [associate professor and Director of the Keck Schools HEAL Program], who is the faculty leader for both groups, as well as a fantastic pediatrician, author, and double-doctor. KMS puts on concerts featuring med students for Keck patients, which was the most rewarding aspect of that position for me. One of my favorite memories was: I was singing in the LAC+USC pediatric ward, going from room to room because not all of the patients were ambulatory. I was singing a song from Frozen for this little girl. The song is a duet, but I was just singing the part of Anna. And this little girl starts singing the part of the other character, Elsa, with me. I had goosebumps! At the end of the song, the girls mother came up to me and said that her daughter hadnt even spoken for weeks, let alone sang. We were all crying happy tears. It was amazing to me that music could have that kind of transformative effect.

KS: The award you won at this years USC awards convocation is named for Rockwell Dennis Hunt (1868-1966), who was a longtime professor and dean of the graduate school. The ceremony was on Zoom. What was it like?

Mackenzie: I think it was probably USCs first awards ceremony where everyone attended in their PJs, which I think we should do from now on, because it was very comfortable! The award served as a reminder, for me, of how grateful I am to my parents. I wouldnt be where I am today, pursuing the wonderful opportunities I have a chance to pursue, without their support and guidance. I still remember my mom, Debbie, teaching me how to make flashcards, back in kindergarten! I definitely owe it all to my parents, and it was nice to be able to sit in the living room in our PJs together and watch the award ceremony. My cat was also quite pleased to be able to attend.

Winning the award also felt like a culmination of how grateful I am to USC. My time here has been like a dream or a Disney movie! Only at USC could I have studied voice with Rod Gilfry, a world class opera singer [whos an associate professor of vocal arts at the Thornton School of Music]. Only at USC would I be able to study an ancient Egyptian mummy. Only at USC would I be able to explore the intersection of music and medicine. And only at USC would I be able to get my dual degree and be surrounded by world-class physicians and researchers. I just feel so incredibly grateful. Permanently pinching myself!

by Landon Hall

See more here:
Mackenzie Postel's years of USC excellence earn recognition. Her voice is part of it. - USC News

Model suggests ACER-001, Acers taste-masked, immediate release formulation of sodium phenylbutyrate, may offer improved disease management in patients with Urea Cycle Disorders compared to current treatments

Anticipate submitting ACER-001 NDA in H1 2021 assuming successful completion of additional nonclinical work and long-term stability data, and subject to additional capital

NEWTON, Mass., July 08, 2020 (GLOBE NEWSWIRE) -- Acer Therapeutics Inc. (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs, today announced data from a food effect study in healthy volunteers showing that administration of ACER-001 in a fasted state increased systemic exposure of phenylbutyrate (PBA), phenylacetate (PAA) and phenylacetylglutamine (PAGN) levels compared to fed state, and therefore based on modeling data may improve disease management in patients with urea cycle disorders (UCDs) when compared to currently approved treatments requiring administration with food.

Results from Part B of the ACER-001 bioequivalence (BE) trial in healthy volunteers (n=36) announced in February 2020 showed that ACER-001 was bioequivalent to BUPHENYL (sodium phenylbutyrate) and were within the parameters recommended by the FDAs Guidance for Industry, Statistical Approaches to Establishing Bioequivalence. The BE trial included a food effect study, which evaluated the pharmacokinetics (PK) of sodium phenylbutyrate (NaPBA) showing that administration of ACER-001 in a fasted state achieved more than two times the maximum concentration (Cmax) of PBA compared to administration of the same dose of ACER-001 in a fed state. These results are consistent with previously published data by Nakano, et al1 that evaluated PK of NaPBA in patients with progressive familial intrahepatic cholestasis, also demonstrating that administration of NaPBA in a fasted state significantly increased PBA peak plasma concentration compared to administration of NaPBA in a fed state.

Currently approved therapies for UCDs, including BUPHENYL2 and RAVICTI3 (glycerol phenylbutyrate), are required to be administered with food. BUPHENYL is required to be administered in a fed state due to its aversive odor and taste, with side effects including nausea, vomiting and headaches, which often lead to discontinuation of treatment.4 Additionally, prescribing information states that BUPHENYL food effect is unknown. RAVICTI PK and pharmacodynamic (PD) properties were determined to be indistinguishable in fed or fasted states.5 ACER-001 is uniquely formulated with its multi-particulate, taste-masked coating to allow for administration in a fasted state, while still allowing for rapid systemic release.

Based on the results from the food effect study within the ACER-001 BE trial, Acer commissioned Rosa & Co. LLC to create a PhysioPD PK model to evaluate the potential food effect on exposure, tolerability and efficacy of ACER-001 in UCDs patients. Results from this in silico model suggest that administration of ACER-001 in a fasted state required approximately 30% less PBA to achieve comparable therapeutic benefit in a fed state. In addition, the model predicted that administration of ACER-001 in a fasted state compared to administration of BUPHENYL or RAVICTI (same amounts of PBA) in their required fed states is expected to result in higher peak blood PBA, PAA and PAGN concentrations, predicting a 43% increase in urinary PAGN levels (a negative correlation between blood ammonia area under the curve and 24-hour urinary PAGN amount has been demonstrated6).

For nearly a quarter century, phenylbutyrate has been prescribed to UCD patients with food while its effect on phenylbutyrate absorption was never determined. The results of the ACER-001 food effect study, published literature and in silico modeling suggest that ACER-001 administered in a fasted state, and likely just 10 minutes prior to meals, could offer UCD patients a safe and better disease management option compared to currently approved products that are required to be taken with food, said Chris Schelling, CEO and Founder of Acer. We formulated ACER-001 to specifically improve palatability and tolerability, and we expect that this formulation should allow ACER-001 to be successfully administered without food. We look forward to discussing these findings with the FDA later in the third quarter. Schelling continued Interestingly, the increased exposure seen under fasted conditions may have benefit in other patient populations we intend to study, such as Maple Syrup Urine Disease (MSUD), where the Cmax of phenylbutyrate is the active moiety.

About UCDsUCDs are a group of disorders caused by genetic mutations that result in a deficiency in one of the six enzymes that catalyze the urea cycle, which can lead to an excess accumulation of ammonia in the bloodstream, a condition known as hyperammonemia. Acute hyperammonemia can cause lethargy, somnolence, coma, and multi-organ failure, while chronic hyperammonemia can lead to headaches, confusion, lethargy, failure to thrive, behavioral changes, and learning and cognitive deficits. Common symptoms of both acute and chronic hyperammonemia also include seizures and psychiatric symptoms.7,8

The current treatment of UCDs consists of dietary management to limit ammonia production in conjunction with medications that provide alternative pathways for the removal of ammonia from the bloodstream. Some patients may also require individual branched-chain amino acid supplementation.

Current medical treatments for UCDs include nitrogen scavengers RAVICTI and BUPHENYL in which the active pharmaceutical ingredients are glycerol phenylbutyrate (GPBA) and sodium phenylbutyrate (NaPBA), respectively. According to a 2016 study by Shchelochkov et al., published in Molecular Genetics and Metabolism Reports, while nitrogen scavenging medications can be effective in helping to manage ammonia levels in some patients with UCDs, non-compliance with treatment is common. Reasons given for non-compliance include the unpleasant taste associated with available medications, the frequency with which medication must be taken, the number of pills, and the high cost of the medication.9

About ACER-001ACER-001 is a taste-masked, immediate-release proprietary formulation of sodium phenylbutyrate developed by Acer using a microencapsulation process. ACER-001 is being developed for the treatment of various inborn errors of metabolism, including UCDs and Maple Syrup Urine Disease (MSUD). ACER-001 microparticles consist of a core center, a layer of active drug, and a taste-masking coating that quickly dissolves in the stomach, allowing taste to be neutralized while still allowing for rapid systemic release. This taste-masked formulation may result in better patient tolerability allowing for administration in a fasted state, and likely prior to a meal. Acer has been granted orphan drug designation by the FDA for the MSUD indication. ACER-001 is under clinical investigation and its safety and efficacy have not been established. There is no guarantee that this product will receive FDA approval or become commercially available for the uses being investigated.

About Acer Therapeutics Inc.Acer is a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs. Acers pipeline includes four clinical-stage candidates: emetine hydrochloride for the treatment of patients with COVID-19; EDSIVO (celiprolol) for the treatment of vascular Ehlers-Danlos syndrome (vEDS) in patients with a confirmed type III collagen (COL3A1) mutation; ACER-001 (a taste-masked, immediate release formulation of sodium phenylbutyrate) for the treatment of various inborn errors of metabolism, including urea cycle disorders (UCDs) and Maple Syrup Urine Disease (MSUD); and osanetant for the treatment of induced Vasomotor Symptoms (iVMS) where Hormone Replacement Therapy (HRT) is likely contraindicated. Each of Acers product candidates is believed to present a comparatively de-risked profile, having one or more of a favorable safety profile, clinical proof-of-concept data, mechanistic differentiation and/or accelerated paths for development through specific programs and procedures established by the FDA. For more information, visit http://www.acertx.com.

References

Forward-Looking StatementsThis press release contains forward-looking statements that involve substantial risks and uncertainties for purposes of the safe harbor provided by the Private Securities Litigation Reform Act of 1995. All statements, other than statements of historical facts, included in this press release regarding strategy, future operations, timelines, future financial position, future revenues, projected expenses, regulatory submissions, actions or approvals, cash position, liquidity, prospects, plans and objectives of management are forward-looking statements. Examples of such statements include, but are not limited to, statements relating to the potential for our product candidates to safely and effectively treat diseases and to be approved for marketing; the commercial or market opportunity of any of our product candidates in any target indication and any territory; our ability to secure the additional capital necessary to fund the ACER-001 program; the adequacy of our capital to support our future operations and our ability to successfully initiate and complete clinical trials and regulatory submissions; the ability to protect our intellectual property rights; our strategy and business focus; and the development, expected timeline and commercial potential of any of our product candidates. We may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements and you should not place undue reliance on these forward-looking statements. Such statements are based on managements current expectations and involve risks and uncertainties. Actual results and performance could differ materially from those projected in the forward-looking statements as a result of many factors, including, without limitation, risks and uncertainties associated with the ability to project future cash utilization and reserves needed for contingent future liabilities and business operations, the availability of sufficient resources to meet our business objectives and operational requirements, the fact that the results of earlier studies and trials may not be predictive of future clinical trial results, the protection and market exclusivity provided by our intellectual property, the substantial costs and diversion of managements attention and resources which could result from pending securities litigation, risks related to the drug development and the regulatory approval process, including the timing and requirements of regulatory actions, and the impact of competitive products and technological changes. We disclaim any intent or obligation to update these forward-looking statements to reflect events or circumstances that exist after the date on which they were made. You should review additional disclosures we make in our filings with the Securities and Exchange Commission, including our Quarterly Reports on Form 10-Q and our Annual Report on Form 10-K. You may access these documents for no charge at http://www.sec.gov.

Investor Contact:Hans VitzthumLifeSci AdvisorsPh: 617-430-7578hans@lifesciadvisors.com

Jim DeNikeAcer Therapeutics Inc.Ph: 844-902-6100jdenike@acertx.com

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Acer Therapeutics Announces Administration of ACER-001 in a Fasted State Increased Systemic Exposure of Phenylbutyrate in Healthy Volunteer Food...

WASHINGTON, July 7, 2020 /PRNewswire/ --A LUNGevity Foundation-led consortium of 41 leading patient advocacy organizations, professional societies, and industry partners has published a white paper detailing recommendations for the use of testing terminology in precision medicine for patient education throughout the cancer community. Use of consistent language will significantly improve patient awareness and understanding of potentially lifesaving testing options available for both new cancer diagnoses and progression or recurrence of disease.

Research shows that despite widespread acceptance of the importance of testing, actual testing rates lag far behind best-practice recommendations for both biomarker testing for somatic (acquired) mutations and other biomarkers, and for germline genetic testing for identifying germline (inherited) mutations (also known as variants). Analysis by The Consistent Testing Terminology Working Group (Working Group) indicates that language disparity is a primary obstacle to patient communication with providers about testing for their specific cancer type. Further, development of consistent language can increase patient understanding and communication, facilitate shared decision making, support value-based care, and assure concordance in policy development.

The Working Group is a consortium of 20 cancer patient advocacy groups representing solid tumor and hematologic malignancies, three professional societies, and 18 pharmaceutical and diagnostic companies and testing laboratories. Over the course of many years, multiple activities, led by numerous individual patient advocacy organizations and professional societies, have developed the groundwork for this effort. The Working Group has launched a multi-faceted dissemination and communications effort to ensure that its recommendations and supporting materials are widely available among all key stakeholders within the cancer ecosystem, including providers, patient advocacy organizations, guidelines agencies, payers, and policymakers.

In developing its recommendations, the Working Group, first convened in 2019 by LUNGevity Foundation, identified 33 terms related to biomarker, genetic, and genomic testing that were being used in patient education and clinical care within the different cancer communities. In many cases, multiple terms were used to describe the same test. Various testing modalities, the source of testing samples, and the multiplicity of gene mutations currently identifiable by testing were contributing factors in this often-confusing overlap.

In the final analysis, three umbrella descriptor terms emerged as recommendations from the Working Group's milestone exploration: "Biomarker testing"was selected as the preferred term for tests that identify characteristics, targetable findings, or other test results originating from malignant tissue and blood; "genetic testing for an inherited mutation" and "genetic testing for inherited cancer risk" were selected as consensus terms for tests used to identify germline (inherited) mutations.

"Far too many patients across all cancer types are still missing out on essential tests for biomarkers and inherited mutations indicating cancer risk," said Michelle Shiller, DO, AP/CP, MGP, Co-Medical Director of Genetics at Baylor Sammons Cancer Center and Staff Pathologist at Baylor University Medical Center. "With rates of biomarker testing and genetic testing for an inherited mutation at sub-optimal levels for numerous patient populations, patients are not benefiting from biomarker-directed care or not learning about their inherited cancer risk. Confusion around testing terms is a driving factor in this undertesting and ultimately has a detrimental impact on patient care."

Adds Nikki Martin, Director of Precision Medicine Initiatives at LUNGevity Foundation, "When someone is diagnosed with cancer, they're swept into a whirlwind of bewildering words and complex, pressing decisions. Our Working Group's goal is to help calm that storm of confusion with clear and consistent language that facilitates communication and medical decision-making. A unified voice and message from providers, industry, and the patient advocacy community about testing is absolutely vital to optimal cancer care."

An abstract on the Working Group's recommendations was published in May 2020 as part of the American Society of Clinical Oncology (ASCO) Annual Meeting Virtual Library.

The White Paper can be viewed in its entirety atwww.CommonCancerTestingTerminology.org.

Working Groupparticipating organizations include:

Patient Advocacy: CancerCare; Cancer Support Community;The CholangiocarcinomaFoundation;Clearity Foundation; Colorectal Cancer Alliance; Fight CRC; FORCE(Facing Our Risk of Cancer Empowered); International Cancer Advocacy Network; Leukemia & Lymphoma Society; The Life Raft Group; Lymphoma Research Foundation; Living Beyond Breast Cancer; Lung Cancer Action Network (LungCan); LUNGevity Foundation; National Lung Cancer Roundtable(American Cancer Society); PanCAN; Personalized Medicine Coalition; Prostate Cancer Foundation; Ovarian Cancer Research Alliance (OCRA); Sharsheret(The Jewish Breast & Ovarian Cancer Community);and Susan G. Komen.

Professional Societies: Association of Community Cancer Centers(ACCC);Association for Molecular Pathology(AMP); and National Society of Genetic Counselors(NSGC).

Industry Partners: Abbvie; Amgen;AstraZeneca; Blueprint Medicines; Boehringer Ingelheim; Bristol-Myers Squibb; Caris Life Sciences; Eli Lilly and Company; Foundation Medicine; Genentech;GlaxoSmithKline (GSK); Novartis; Myriad Women's Health; NeoGenomics; Pfizer; Personal Genome Diagnostics (PGDx); andThermo Fisher Scientific.

About LUNGevity Foundation

LUNGevity Foundation is the nation's leading lung cancer organization focused on improving outcomes for people with lung cancer through research, education, policy initiatives, and support and engagement for patients, survivors, and caregivers. LUNGevity seeks to make an immediate impact on quality of life and survivorship for everyone touched by the diseasewhile promoting health equity by addressing disparities throughout the care continuum. LUNGevity works tirelessly to advance research into early detection and more effective treatments, provide information and educational tools to empower patients and their caregivers, promote impactful public policy initiatives, and amplify the patient voice through research and engagement. The organization provides an active community for patients and survivorsand those who help them live better and longer lives.

Comprehensive resources include a medically vetted and patient-centric website, a toll-free HELPLine for support, the International Lung Cancer Survivorship Conference, and an easy-to-use Clinical Trial Finder, among other tools. All of these programs are to achieve our visiona world where no one dies of lung cancer. LUNGevity Foundation is proud to be a four-star Charity Navigator organization.

About Lung Cancer in the US

Please visit http://www.LUNGevity.orgto learn more.

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SOURCE LUNGevity Foundation

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Pan-Cancer Consortium Moves to Clarify and Promote Consistent Use of Common Terms for Biomarker and Germline Genetic Testing - BioSpace

SALT LAKE CITY, July 07, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced today two recent publications validating the polygenic risk score (PRS) component of Myriad’s breast cancer risk stratification tool riskScore®. The publications clinically validate both the ability of the PRS component of riskScore to predict breast cancer risk in asymptomatic women and modify risk estimations for patients identified with pathogenic mutations.

Historically we’ve considered breast cancer risk most significant for women diagnosed with pathogenic mutations in hereditary cancer genes. These studies demonstrate clearly that other genetic factors evaluated through Myriad’s riskScore test can dramatically alter breast cancer risk both independent of, and in combination with, gene mutations,” said Nicole Lambert, president of Myriad International, Oncology and Women’s Health. This information can dramatically change patient clinical management and Myriad is currently working diligently to provide access to this important information for all women.”

The first study published in JCO Precision Oncology described the PRS component of riskScore in over 150,000 women. It showed that independent of other hereditary breast cancer gene mutations (e.g., BRCA1), Myriad’s polygenic risk score can add great value and precision to breast cancer risk estimates. The PRS was highly associated with breast cancer risk with an odds ratio of 1.47 (95% confidence interval 1.45 to 1.49) per unit standard deviation in the PRS. This translated to women in the top PRS percentile having a three-fold higher risk of breast cancer than an average risk patient.

The second study published in the Journal of the American Medical AssociationNetwork Open demonstrates the ability of Myriad’s polygenic risk score to improve breast cancer risk stratification in women diagnosed with pathogenic mutations in common breast cancer genes. The study evaluated over 150,000 patients and approximately 10,000 patients who were carriers of pathogenic mutations in the BRCA1, BRCA2, CHEK2, ATM and PALB2 genes who were tested at Myriad. The study demonstrated that patients with high penetrant genes such as BRCA1 and BRCA2 did not warrant changes in clinical management; however, breast cancer risks in patients with moderate penetrant genes such as CHEK2, ATM, and PALB2 could vary significantly, warranting different clinical management considerations. For example, patients with a PALB2 mutation historically have been assessed to have an approximately 50 percent lifetime risk for breast cancer. However, after incorporating the data from Myriad’s 86 single nucleotide polymporphism (SNP) riskScore test, patient risks varied between 26 percent to 79 percent (see Graph 1 below).

To view Graph 1: PRS Significantly Modifies Lifetime Breast Cancer Risk in Mutation Carriers please visit the following link: https://www.globenewswire.com/NewsRoom/AttachmentNg/11ac3a62-dd7e-417a-9f08-a3a3110e01db

These are some of the largest polygenic risk score studies ever published. Patient medical management can vary dramatically depending on where patients with and without pathogenic mutations fall within the risk spectrum,” said Thomas P. Slavin M.D., senior vice president for Medical Affairs in Oncology at Myriad Genetic Laboratories. This information will help empower patients and clinicians to make more informed decisions based upon the most precise breast cancer risk estimates availiable.”

About riskScore® riskScore is a new clinically validated personalized medicine tool that enhances Myriad’s myRisk® Hereditary Cancer test. riskScore helps to further predict a women’s lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome. The test incorporates data from more than 80 single nucleotide polymorphisms identified through 20 years of genome wide association studies in breast cancer and was prospectively validated in our laboratory to predict breast cancer risk in women of European descent. This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.

About Myriad Genetics Myriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on three strategic imperatives: transitioning and expanding its hereditary cancer testing markets, diversifying its product portfolio through the introduction of new products and increasing the revenue contribution from international markets. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor Statement This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to providing access to this important information for all women; and the Company’s strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers’ reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Int’l, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Graph 1

PRS Significantly Modifies Lifetime Breast Cancer Risk in Mutation Carriers

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Myriad Announces New Studies Validating the Ability of Myriad's riskScore Test to Modify Breast Cancer Risk Prediction | 2020-07-07 | Press Releases -...

Mutation rating: Scores may help researchers identify changes in the gene PTEN most likely to play a role in autism.

CRAFTSCI / Science Photo Library

A new analysis links individual mutations in a gene called PTEN to a persons odds of having autism, cancer or other conditions1. The findings may help clinicians and researchers predict the effects of various mutations in the gene.

PTEN controls cell growth and regulates the strength of connections between neurons. Mutations in the gene are associated with a variety of conditions, including autism, macrocephaly (enlarged head size), benign tumors and several types of cancer. It is still unclear how different mutations cause such varied effects.

Scientists cannot easily predict the consequences of a PTEN mutation based on its type whether it involves a single amino acid change or a larger interruption to the gene, for example or its impact on the protein the gene encodes. Researchers have developed methods to examine the molecular effects of PTEN mutations within cells in a dish, but these approaches do not link mutations to specific conditions in people.

In the new analysis, the researchers probed the effects of 7,657 PTEN mutations, representing all possible changes to each amino acid in the genes sequence. They built on the findings from a previous study in which they used yeast cells to calculate a fitness score for 7,244 PTEN mutations2. They combined this dataset with another in which researchers had given an abundance score to 4,112 PTEN mutations based on how those mutations affect protein levels in human cells in a dish3.

The team used machine learning on the combined dataset to calculate abundance and fitness scores for mutations that lacked them. They then compared these scores with data they gathered from 421 people with PTEN mutations 165 controls and 256 people with a PTEN-related condition, such as autism, developmental delay, intellectual disability, macrocephaly, or benign or malignant tumors.

People with the largest head size tend to have mutations with the lowest fitness and abundance scores, the researchers reported in June in the American Journal of Human Genetics. Similarly, low scores track with having PTEN-related conditions that are severe or appear at a young age.

By comparing mutations in individuals with PTEN-linked traits and those in controls, the researchers also found that fitness scores can predict whether a mutation is likely to lead to a PTEN-related condition.

Together, these findings suggest that abundance and fitness scores may help predict the consequences of PTEN mutations, the researchers say.

The team also split single amino acid changes into three classes based on the severity of their effects on protein function and abundance.

The most severe mutations are linked to a higher likelihood of cancer diagnosis by age 35 compared with the least severe mutations, the researchers found. Greater severity also tracks with an increased likelihood of tumor-like growths.

However, the severity of the variants effects is not tied to a persons likelihood of having autism or developmental delay. This suggests that even a small decrease in PTEN activity may be enough to significantly increase the odds of having a neurodevelopmental condition, the researchers say.

The analysis may help tease apart PTEN mutations different effects, the researchers say. It may also help researchers identify the mutations most likely to play a role in autism and prioritize them for further research.

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Scores forecast effects of mutations in autism gene - Spectrum