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Category Archives: Molecular Genetics

Scores forecast effects of mutations in autism gene – Spectrum

Posted: July 9, 2020 at 2:48 am

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

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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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Myriad Announces Partnership with OptraHEALTH to Deliver "Gene(TM)" a New AI Based Information Tool for Hereditary Cancer Patients |…

Posted: July 9, 2020 at 2:48 am

SALT LAKE CITY, July 06, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced a new collaboration with OptraHEALTH® to implement a cognitive ChatBOT named Gene to provide genetic and financial assistance information to prospective patients. Gene is an AI-powered, HIPAA-compliant knowledge platform for genetic health with BOT interfaces and can answer over 500,000 health related questions pertaining to hereditary cancer. Gene interfaces with Myriad’s market leading online hereditary cancer quiz, which is now taken by approximately one million people per year.

We are excited to offer this innovative new tool for physicians and patients to provide best-in-class pre-test education solutions that we can supplement with live sessions when necessary,” said Nicole Lambert, president of Myriad International, Oncology and Women’s Health. Myriad is highly focused on making the screening and testing process as streamlined as possible for healthcare providers and the implementation of this new technology will give their patients access to unparalleled online genetic education and support tools. This is especially important in the current environment with COVID-19 where patients may not be returning to the clinic setting and pre-test education can be particularly helpful as they work remotely with the healthcare provider to determine if testing is right for them.”

Gene will interactively engage individuals online, providing them with education about hereditary cancer prior to taking an online assessment to determine if they may be a candidate for genetic testing. For those who complete the preliminary assessment and meet criteria for further evaluation, Gene will automate a pre-test process that sends an educational link that displays interactive multimedia content and gives the option to start a live conversation with a patient educator, who is a certified genetic counselor. Gene can also assist in finding a healthcare provider who can help a patient make an informed, definitive decision whether testing is appropriate and then order testing if so. Myriad plans on launching the Gene chatbot for its Foresight® and Prequel prenatal tests and for companion diagnostic testing in oncology later this calendar year.

About OptraHEALTH: OptraHEALTH is focused on improving outcomes for consumers and leading Life Sciences and Healthcare organizations by utilizing a next-generation Artificial Intelligence Platform. OptraHEALTH’s flagship product GeneFAX is an AI-powered knowledge platform for genetic health and is available as a web plugin or mobile application.

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, Prolaris and riskScore 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 implementation of this new technology giving patients access to unparalleled online genetic education and support tools; plans to launch the Gene chatbot for its ForeSight® and Prequel prenatal tests and for hereditary cancer testing in oncology later this calendar year; details of the functionality of the Gene chatbot; 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.

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Myriad Announces Partnership with OptraHEALTH to Deliver "Gene(TM)" a New AI Based Information Tool for Hereditary Cancer Patients |...

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Fine-tuning brain activity reverses memory problems in mice with autism mutation – Spectrum

Posted: July 9, 2020 at 2:48 am

Social circuitry: Mice with an autism-linked mutation have better social memory after treatment that calms a related neural circuit.

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Dampening overactive brain circuits alleviates social and spatial memory problems in a mouse model of 22q11.2 deletion syndrome, according to a new study1. The findings hint at the possibility of novel treatments for some difficulties associated with the syndrome.

Deletions of DNA in a chromosomal region known as 22q11.2 often cause intellectual disability or other cognitive difficulties, as well as psychiatric conditions such as schizophrenia. About 16 percent of people with the deletion also have autism2.

The type and severity of traits vary from person to person, in part because the deletion can span roughly 20 to 50 genes. That range makes it difficult to design targeted therapies. And many people with deletions in 22q11.2 are prone to drug-related side effects, such as seizures.

Side effects with drug treatment is one of the hardest parts of dealing with mental illness, says Julia Kahn, a postdoctoral researcher at the Childrens Hospital of Philadelphia in Pennsylvania, who worked on the study. Being able to circumvent that in a very directed manner would be really life-changing for a lot of people.

The study identifies the neural circuits responsible for select behaviors in model mice and shows that manipulating those circuits could offer a new treatment strategy.

It suggests that therapies can be symptom specific, says lead investigator Douglas Coulter, professor of pediatrics and neuroscience at the University of Pennsylvania in Philadelphia.

Coulter and his colleagues manipulated circuits in two regions of the hippocampus in 22q11.2 model mice: the ventral region, which governs social memory, and the dorsal region, involved in spatial memory. They focused on the hippocampus because it is important to social cognition in both mice and people, and previous studies have shown it is unusually small in people with 22q11.2 deletions3.

Before the manipulation, mice missing 22q11.2 perform worse than controls on tests of their social and spatial memory, the study shows. The mice do not distinguish between a new mouse and one they have already met, and they have trouble recognizing when an object in their cage has been moved. Brain imaging also showed that the model mice have overactive neurons in the hippocampus.

The team used a method known as chemogenetics to dampen this overactivity. They gave the mice an injection that prompts some neurons in the hippocampus to produce designer receptors. They then injected the animals with an experimental drug that binds only to those receptors, making the neurons less excitable.

The animals behaviors changed, depending on where they received the injection. Social memory improved when the drug targeted the ventral hippocampus, and spatial memory improved when the drug affected neurons in the dorsal area. Too much inhibition in either area caused the animals memory problems to return.

Using the same technique, the researchers also gave control mice drug-sensitive receptors that either activate or quell the same circuits in the hippocampus. After both treatments, the controls showed the same social memory problems as the mice with 22q11.2 deletions. The results indicate that disrupting the circuits in either direction is enough to change behavior, even without any underlying genetic mutations. The findings were published in May in Biological Psychiatry.

Chemogenetics is a long way off from use in people, but drugs currently on the market may be able to achieve similar outcomes by nudging circuits into a more balanced state, says Peter Scambler, professor of molecular medicine at University College London in England, who was not involved in the work.

Its a proof of principle, he says.

Manipulating circuits that govern specific behaviors should be a goal of all current work at this point, says Anthony LaMantia, professor of developmental disorders and genetics at Virginia Polytechnic Institute and State University in Blacksburg, who was not involved in the work. This is much more targeted and precise. It should make everybody in the field think through how to design their experiments.

Targeting circuits in the hippocampus could help people, because findings in the hippocampus in mice typically translate well to humans, says Rebecca Piskorowski, head of the synaptic plasticity and neuronal circuits team at the Institute of Psychiatry and Neuroscience of Paris in France, who was not involved in the work.

This kind of targeting might also help at any age. The method improved memory in adult mice, suggesting similar treatments could help older people with 22q11.2 deletions and not just children.

This paper shows if you just adjust the activity in a tiny little place, you can somehow compensate for all those developmental problems, Piskorowski says. That is particularly exciting.

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When Cancer Cells Cant Make Their Own Fat, They Eat Whats Around Them – SciTechDaily

Posted: June 13, 2020 at 4:48 pm

A switch in cancer fat metabolism from production to import could be exploited for therapy, researchers say. Credit: National Institutes of Healthy Public LIbrary

Cancer cells rewire their metabolism to compensate for a halt in fat production by importing more fat molecules from their environment.

Knowing what cancer will do next could lessen the likelihood of it becoming resistant to treatment. A new U of T study investigates how cancer adapts its metabolism to potentially overcome therapies still in development.

Several clinical trials have failed because metabolism is such an adaptive process by which cancer cells gain drug resistance, says Michael Aregger, a co-lead author and Research Associate working with Jason Moffat, Professor of molecular genetics in the Donnelly Centre for Cellular and Biomolecular Research, who co-led the work. If you know how cells are able to adapt to perturbations, maybe we can target them more specifically to avoid resistance from developing.

If you know how cells are able to adapt to perturbations, maybe we can target them more specifically to avoid resistance from developing Michael Aregger, Research Associate

The research was also led by Brenda Andrews and Charles Boone, University Professor and Professor of molecular genetics at the Donnelly Centre, respectively, and Chad Myers, a Professor of computer science at the University of Minnesota-Twin Cities.

The study, published this week in the journal Nature Metabolism, is the first to investigate global changes in cancerous cells as they adapt to a shortfall of critical nutrients such as fat molecules, or lipids, which make up the cells outer envelope.

When cancer cells are unable to make their own lipids, they gobble them up from their environment to ensure a steady supply of these essential building blocks, the study found. Lipids also serve as fuel and chemical signals for communication between cells, among other roles.

The switch in metabolism could be bad news for drugmakers seeking to target cancer by reducing its lipid reserves. In particular, drugs that inhibit an enzyme called FASN, for fatty acid synthase, involved in an early step of lipid synthesis, are being explored in patient trials. Fatty acids are precursors of larger lipid molecules and their production is increased in many cancers thanks to elevated FASN levels, which are also associated with poor patient prognosis.

The U of T study suggests that the effectiveness of FASN inhibitors could be short-lived owing to cancers ability to find another way to procure lipids.

Because FASN is upregulated in many cancers, fatty acid synthesis is one of the most promising metabolic pathways to target says Keith Lawson, a co-lead author and PhD student in Moffats lab enrolled in the Surgeon-Scientist Program at the Faculty of Medicine. Given that we know there is a lot of plasticity in metabolic processes, we wanted to identify and predict ways in which cancer cells can potentially overcome the inhibition of lipid synthesis.

To block fatty acid synthesis, the researchers employed a human cell line from which the FASN coding gene was removed. Using the genome editing tool CRISPR, they deleted from these cells all ~18,000 or so human genes, one by one, to find those that can compensate for the halt in lipid production. Such functional relationships are also referred to as genetic interactions.

Data analysis, performed by Maximilian Billmann, a co-lead author and a postdoctoral fellow in Myers lab at Minnesota-Twin Cities, revealed hundreds of genes that become essential when cells are starved of fat. Their protein products clustered into well-known metabolic pathways through which cells hoover up dietary cholesterol and other lipids from their surroundings.

Cells intake of cholesterol has become textbook knowledge since it was discovered half a century ago, winning a Nobel Prize and inspiring the blockbuster drug statin and many others. But the new study found that one component of this process remained overlooked all this time.

The gene encoding it was only known as C12orf49, named after its location on chromosome 12. The researchers re-named the gene LUR1, for lipid uptake regulator 1, and showed that it helps switch on a set of genes directly involved in lipid import.

This was a big surprise to us that we were able to identify a new component of the process we thought we knew everything about, says Aregger. It really highlights the power of our global genetic interaction approach that allowed us to identify a new player in lipid uptake in a completely unbiased way.

By a remarkable coincidence, two groups working independently in New York and Amsterdam also linked C12orf49 to lipid metabolism, lending further support for the genes role in this process. The New York team published their findings in the same journal issue as Moffat and colleagues.

Inhibiting LUR1, or other components of lipid import, along with FASN could lead to more effective cancer treatments. Such combination therapies are thought to be less susceptible to emerging drug resistance because the cells would have to simultaneously overcome two obstaclesblocked lipid production and importwhich has a lower probability of occurring.

Therapeutic context that comes out of our work is that you should be targeting lipid uptake in addition to targeting lipid synthesis and our work highlights some specific genes that could be candidates, says Lawson.

Reference: Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism by Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone and Jason Moffat, 1 June 2020, Nature Metabolism.DOI: 10.1038/s42255-020-0211-z

The research was supported by the Canadian Institutes for Health Research, Ontario Research Fund, Canada Research Chairs Program and the U.S. National Institutes of Health.

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Renaissance Academy Class of 2020 graduates with over $17 million in scholarships – Montgomery Newspapers

Posted: June 13, 2020 at 4:48 pm

PHOENIXVILLE -- On Wednesday, June 10th, 2020, seventy-three seniors graduated from the Renaissance Academy Charter School (RA). The ceremony was held at 7:00 pm and included all the RA traditional Commencement Ceremony through video. The event featured Keynote Speaker and Valedictorian speeches, various awards and scholarships presentations, as well as, the seniors being announced and recognized for earning their diplomas.

The keynote speaker, selected by student vote, was Kelly Najdawi, the K-12 Curriculum Leader of English Language Arts at RA. Born and raised in Radnor. Mrs. Najdawi graduated Magna Cum Laude from West Chester University in 2008, earning a Bachelor of Science in Education with a Middle School English Language Arts Certification. She began working at RA in 2008.

During her 11-year career at RA, Mrs. Najdawi taught English Language Arts to this graduating class in both their 7th and 8th grade years. As their teacher, she made a special connection with this class and is confident they will go on to make a real difference in the world. This class has always impressed me with their academic drive, personal voice, and understanding, so I felt they were already best prepared to take on their future. I trust them and the decisions they are going to make and expect them to positively change the status quo by using everything Renaissance has instilled in them.

Also speaking at the ceremony was Carolyn (Carly) Higgins, 2020 Valedictorian. As Carly reflected back on her time at RA, she spoke of the challenges her class faced together as a unified group. She went on to stress the importance of self-dependency and having the bravery to pursue ones goals in life even when there are powerful obstacles ahead. We have the ability to make our dreams a reality, but you have to have the courage to trust yourself first. Thats the world that I want to live in and I know you do too.

In the fall, Carly plans to be on the pre-med track with a dual major in biology and molecular genetics. While she has not yet decided on her specific college, Carly has been accepted to the Rochester Institute of Technologys Physicians Assistant Program (BS/MS) 5 year program, the University of Rochesters biological sciences program in molecular genetics, the University of Richmond; the University of Hawaii at Mnoa, and West Chester University of Pennsylvanias biology-cell and molecular program.

The RA 2020 Salutatorian, Jeremy Wenger, who will be attending Olin College of Engineering located in Needham, Massachusetts, gave his speech during a graduation achievement and awards event on Monday night. Jeremy spoke about the unity and accomplishments of his graduating class and their ability to change the world with what they know is true. Now it is our time to shape the world. We just have to be brave enough to do it.

The Renaissance Academy Charter School graduating class of 2020 includes:

Grace Katherine Abendshein (Phoenixville), Jamod O. Adams (Norristown), Mark D. Adams (Royersford), Olivia Elizabeth Andreoni (Eagleville ), Joshua David BarrancoSilva (Phoenixville ), Daniel Eric Barron (Coatesville ), Naomi Michele Bruno (Sanatoga), Gavin Daniel Budniak (West Norriton), Olivia Rose Campbell (Royersford), Giavanna M. Caperila (Phoenixville), Emily Paige Cassidy (Phoenixville), Alyssa N. Cekic (Phoenixville), Brianna Chandler (Norristown), Shaun Maria Chester (Phoenixville), Jahi Peter Clark (Norristown), Gabriel Avery Cole (Pottstown), Geoffrey James Cross Jr. (Pottstown), Emilia Anna Crow (Royersford), Susannah Jeannette Cushmore (Norristown), Cornelius I. Dairo (Norristown), Taylor Lynn Darden (Phoenixville), Gianna Rose Debro (RoyersfordA), Jonathan William DeSanto (Phoenixville), Kayla Nicole Diaz (Norristown), Samuel Miles Dooling (Norristown), Ryan James Dunn (Phoenixville) Olivia Rachel Ferst (Norristown), Nicolette G. Foster (East Norriton), Madison Elizabeth Francis (Pottstown), Avinash Suhas Ganguly (Jeffersonville), Kelly Roberta Garman (Collegeville), Morgan Elizabeth Gidney (Gilbertsville), Jaeshon Goodman-Rhodes (Norristown), Grace Riley Grenier (Jeffersonville), Kathryn Ann Guevin (Phoenixville), Shay S. Gustafson (Collegeville), Kiley Rae Henderson (Pottstown), Carolyn S. Higgins (Morgantown, PA), Kaitlin Bryn Irby (Phoenixville), Majesty Sanai Jerry (Norristown), Jurnee Ann Jessie (Norristown), Adam Christopher Johnson (Norristown), Micaiah Allen Jones (Norristown), Elisabeth Faith Kerper (Jeffersonville), Theresa Rose Kolter (Phoenixville), Malachy L. Lacy (Jeffersonville), Tyler Anthony Magyar (Pottstown), Grace Elizabeth Moreschi (Audubon) Lindsey Nicole ODonnell (Norristown), Max Victor Olstad (Phoenixville), Angelina Clair Pagano (Pottstown), Dominique Xandria Parrish-Hankins (Norristown), James Joseph Pritz IV (East Norriton), Aliyah Nicole Quill (Phoenixville, PA), Benjamin Ali-Reza Rabizadeh (Exton), Erin Kathleen Robbins (Collegeville), Tyler Steven Robbins (Jeffersonville), Trevor Mitchell Schmidt (East Norriton, PA), Lily Catherine Shaffer (Collegeville), Paige Kimberly Simon (Norristown), Lauren R. Stauch (Phoenixville), Sara Bernadette Stockett (Norristown), Lanasha Sweeper (East Norriton), Nathen Lim Te (Norristown), Devon Lynn Testa (Phoenixville), Sarah Irene Trexler (Spring City, PA), Nissi Jayanth Vinnakota (Norristown), Dominique Meghan Vinson (Conshohocken), Alexander Joseph Waskiewicz (Norristown), Cassandra Jean Waskiewicz (Norristown), Jeremy Benjamin Wenger (Royersford), Chandler D. White (Norristown), and Cole Raymond Winters (Phoenixville).

These graduates have been accepted to universities such as Rensselaer Polytechnic Institute, Dickinson College, Boston University, Bucknell University, University of Rochester, Ohio State University, Olin College of Engineering, University of Michigan, American University, George Washington University, and Swarthmore College. They have been collectively offered (to date) a scholarship total of $17,101,514.00, a new Renaissance Academy merit scholarship school record. Tracey Behrens OBrien, RA Academic and College Counselor noted that nearly all of the scholarships have been awarded to the students by the individual universities, not from scholarship search sites. It is so exciting to see an unprecedented number of students in the Class of 2020 being recognized by prestigious colleges.

Due to the current COVID-19 conditions, some of the traditional RA end-of-year senior events were held a little differently. The graduates were celebrated over five unique nights. Each night, a different link was released on the Senior Knights 2020 website. The nights had videos and live feeds with different focuses including a night for athletics and the arts; a senior class photo slideshow night; awards and the Salutatorian speech; the senior parent reveal night; the 2020 commencement ceremony; and finally, the graduates processional parade.

About this group of graduates, Upper School Principal, Michelle Boyd said, The Class of 2020 will always stand out for all that they have gone through and how they have persevered through such challenging times. The Class of 2020 displays true grit and determination--they will surely go on to change the world for the better!

The Renaissance Academy staff and Board of Trustees are so very proud of these students and wish them the very best in their future endeavors

Established in 1999, Renaissance Academy is a fully accredited K-12, award-winning, tuition-free, college prep charter school located in Phoenixville, PA. The academy is listed as one of US News & World Reports 2020 Best High School in America. For more information on the school, please visit http://www.rak12.org.The graduation video can also be viewed:RA 2020 Commencement Video (YouTube)

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UCD professor asked to resign from EU committee over Covid-19 claims – The Irish Times

Posted: June 13, 2020 at 4:48 pm

A University College Dublin (UCD) professor, who chairs the Eurosceptic Irish Freedom Party, has been asked to resign from a leading European Union scientific committee over online claims she made about the Covid-19 pandemic.

In an hour-long interview with a popular alt-right activist on May 10th, which has been viewed hundreds of thousands of times, Prof Dolores Cahill promised to debunk the narrative of the pandemic.

Lockdown and social distancing is not needed to stop the spread of the virus, she said. People who recover are then immune for life after 10 days and deaths and illnesses could have been prevented by extra vitamins, she claimed.

People with underlying health conditions, such as cystic fibrosis, could freely engage in society during the pandemic after spending a few weeks building up their immunity in this manner, she went on.

Opposing vaccinations, Ms Cahill said politicians and the media are using Covid-19 as a fear-mongering propaganda tool to try and take away rights from people and to make them more sick and to force vaccinations on us.

However, the European Commission said the claims made by Ms Cahill, a professor of translational medicine in UCD, could cause significant harm, if taken literally.

Following this, Ms Cahill was asked to resign as vice chair of the Scientific Committee of the Innovative Medicines Initiative (IMI), a partnership between the European Commission and the drugs industry to promote new drugs.

Professor Cahill has been requested by the Chair of the Scientific Council of IMI and the Executive Director of IMI to step down from her function, the commission told The Irish Times.

While as a private person, Professor Cahill is entitled to express her points of view, these are not compatible with the scientific foundations of the Innovative Medicines Initiative, said a Commission spokesperson.

Ms Cahills claims have also caused Berlins Max Planck Institute for Molecular Genetics (MPIMG), where she worked for eight years, to distance itself, saying it did not want to be associated in any way with the claims made.

The IMI echoed these sentiments, saying that they were shocked to see her statements and that her views do not reflect those hold on Covid-19 by of IMI.

A former Max Planck colleague, Prof Hans Lehrach said he was really surprised by Ms Cahills comments: I have no idea why she says things like that, he said.

There is absolutely no proof that people recovering from the disease are immune for life, he said, reflecting the World Health Organisations understanding on the subject.

Vitamins and minerals do help the immune system, but Mr Lehrach said he would very much doubt that they would defend against the virus. The vulnerable would be pretty insane to engage widely during the pandemic.

Ms Cahill also supported the use of hydroxychloroquine to treat Covid-19, one that has been supported, too, by US president Donald Trump. The drug, she said, is safe and effective in treating the disease.

However, Prof Lehrach said that he would be very careful with hydroxychloroquine as testing had proven that it is ineffective as a treatment and has been known to cause death due to heart complications.

The original interview has since been removed by YouTube, but versions can still be found easily online and have clocked up hundreds of thousands of views. Ms Cahill has given a number of similar interviews since.

Ms Cahill is a member of the faculty at UCD school of medicine, where she is the module co-ordinator on a number of subjects, including one taught to first-year medicine students called Science Medicine and Society.

When approached for comment, UCD confirmed that she is part of the universitys faculty, but refused to comment further on her claims, saying only that they are her own views.

Ms Cahill unsuccessfully contested the general election for the Irish Freedom Party in February, eliminated on the second count in Tipperary with a total of 527 votes. She has not replied to requests for comment.

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Aerpio Hosting Key Opinion Leader Call on a Novel Mechanism for the Treatment of Glaucoma – GlobeNewswire

Posted: June 13, 2020 at 4:48 pm

CINCINNATI, June 08, 2020 (GLOBE NEWSWIRE) -- Aerpio Pharmaceuticals, Inc. (Aerpio) (Nasdaq: ARPO), a biopharmaceutical company focused on developing compounds that activate Tie2 to treat ocular diseases and diabetic complications, today announced that it is hosting a key opinion leader (KOL) call on a novel mechanism for the treatment of glaucoma on Friday, June 12, 2020 at 11:30am Eastern Time.

The call will feature presentations by Dr. Paul Kaufman M.D. (University of Wisconsin) and Dr. Janey Wiggs, M.D., Ph.D. (Massachusetts Eye and Ear Infirmary and Harvard Medical School), who will discuss the current glaucoma treatment landscape and unmet medical needs, as well as the role of the Tie2 receptor in maintaining intraocular pressure. Drs. Kaufman and Wiggs will be available to answer questions at the conclusion of the event.

Aerpio's management team will also discuss its pipeline candidate, razuprotafib (formerly AKB-9778), for treating patients with glaucoma. Razuprotafib is a small molecule inhibitor that restores Tie2 activation in Schlemms canal and lowers intraocular eye pressure (IOP) via decreasing resistance to outflow from the eye. Razuprotafib has been formulated as a once or twice-daily topical eye drop and is entering a Phase 2 clinical trial in Q3:20, with top line data expected in Q1:21.

Aerpio recently announced positive and statistically significant intraocular eye pressure (IOP) reduction in a Phase 1b trial of 43 glaucoma patients, when razuprotafib was added to prostaglandin treatment. This data set is summarized here.

Paul Kaufman, M.D. is the Ernst H. Brny Emeritus Professor of Ocular Pharmacology and past Chair of the Department of Ophthalmology & Visual Sciences at the University of Wisconsin School of Medicine and Public Health, in Madison, Wisconsin. He is a physician-scientist, specializing in glaucoma and studying the mechanisms of aqueous humor formation and drainage, and the age-related loss of near vision. Dr Kaufman is a past President and past Executive Vice President of the Association for Research in Vision and Ophthalmology (ARVO), past President of the International Society for Eye Research (ISER), and has served on the US National Advisory Eye Council and numerous foundation and corporate scientific advisory boards. He has had continuous research funding from the US National Eye Institute for 40 years and from numerous private foundations, has authored over 375 original scientific articles and 75 book chapters, co-edited several textbooks including the most recent editions of Adlers Physiology of the Eye, and received numerous honors and awards including the Friedenwald Award from ARVO and the Balazs Prize from ISER. He was Editor-in-Chief of Investigative Ophthalmology & Visual Science from 2008 through 2012. Dr. Kaufman also holds an honorary Doctor of Medicine degree from Uppsala University in Sweden, where he was a post-doctoral research fellow.

Janey L. Wiggs, M.D., Ph.D. is a physician-scientist at the Massachusetts Eye and Ear Infirmary and Harvard Medical School. She is currently the Paul Austin Chandler Professor of Ophthalmology and is the Vice Chair for Clinical Research in Ophthalmology at Harvard Medical School. She also directs the CLIA-certified genetic testing laboratory at the Massachusetts Eye and Ear Infirmary and is a co-director of the Ocular Genomics Institute and co-director of the Glaucoma Center of Excellence. Dr. Wiggs received her B.A. and Ph.D. degrees in biochemistry from the University of California at Berkeley and her M.D. degree from Harvard Medical School. She did post-doctoral training in molecular genetics under the direction of Dr. Ted Dryja. Dr. Wiggs completed the ophthalmology residency at the Massachusetts Eye and Ear Infirmary and received fellowship training in glaucoma and also in medical genetics and is certified by the both the American Board of Ophthalmology and the American Board of Medical Genetics. Dr. Wiggs research program is focused on the discovery and characterization of genetic factors that contribute to the blinding eye disease glaucoma and is funded by the National Eye Institute (NEI) as well as other nonprofit foundations. She is investigating the genetic etiologies of both early-onset and adult forms of glaucoma and is the PI of the NEIGHBORHOOD consortium for gene discovery in primary open angle glaucoma and is a founding member of the International Glaucoma Genetics Consortium (IGGC). She has also participated in research programs funded by the US-INDO joint working group (NEI) and the NEI eyeGENE consortium. Dr. Wiggs was the inaugural chair of the Genetics Group for ARVO and is an ARVO gold fellow. She currently serves on the editorial boards of IOVS, JAMA Ophthalmology, Molecular Vision, Journal of Glaucoma, and Annual Reviews in Vision Science. She is a member of the scientific advisory boards for the Glaucoma Research Foundation, Research to Prevent Blindness and the Glaucoma Foundation, and is a past member of the Advisory Council of the National Eye Institute. She has received the Heed Award, the Heed/Knapp Award, the Research to Prevent Blindness Scholar Award, the AAO Honor Award, the Lew Wasserman Merit Award, the Alcon Research Award, the David L. Epstein award from the ARVO Foundation and was a winner of the NEI Audacious Goal competition. She is an elected member of the Glaucoma Research Society, the American Ophthalmological Society, the Academia Ophthalmologica Internationalis and the National Academy of Medicine.

About RazuprotafibRazuprotafib binds to and inhibits vascular endothelial protein tyrosine phosphatase (VE-PTP), an important negative regulator of Tie2. Decreased Tie2 activity contributes to vascular instability in many diseases including diabetes and more recently has been shown to contribute to the development of increased IOP and glaucoma. Razuprotafib activates the Tie2 receptor irrespective of extracellular levels of its binding ligands, angiopoietin-1 (agonist) or angiopoietin-2 (antagonist) and may be the most efficient pharmacologic approach to maintain normal Tie2 activation. Aerpio is studying a topical ocular formulation of razuprotafib in open angle glaucoma and exploring the utility of subcutaneous razuprotafib for diabetic complications, including diabetic nephropathy.

About Aerpio PharmaceuticalsAerpio Pharmaceuticals, Inc. is a biopharmaceutical company focused on developing compounds that activate Tie2 to treat ocular diseases and diabetic complications. Recently published mouse and human genetic data implicate the Angpt/Tie2 pathway in maintenance of Schlemms canal, a critical component of the conventional outflow tract. The Companys lead compound, razuprotafib (formerly AKB-9778), a first-in-class small molecule inhibitor of vascular endothelial protein tyrosine phosphatase (VE-PTP), is being developed as a potential treatment for open angle glaucoma, and the Company intends to investigate the therapeutic potential of razuprotafib in other indications. The Company is also evaluating development options for ARP-1536, a humanized monoclonal antibody, for its therapeutic potential in the treatment of diabetic vascular complications including nephropathy and diabetic macular edema (DME). The Companys third asset is a bispecific antibody that binds both VEGF and VE-PTP which is designed to inhibit VEGF activation and activate Tie2. This bispecific antibody has the potential to be an improved treatment for wet age-related macular degeneration and DME via intravitreal injection. Finally, the Company has exclusively out-licensed AKB-4924 (now called GB004), a first-in-class small molecule inhibitor of hypoxia-inducible factor-1 (HIF). GB004 is being developed by AKB-4924s exclusive licensor, Gossamer Bio, Inc. (Nasdaq: GOSS). For more information, please visit http://www.aerpio.com.

Forward Looking StatementsThis press release contains forward-looking statements. Statements in this press release that are not purely historical are forward-looking statements. Such forward-looking statements include, among other things, the Companys product candidates, including razuprotafib, ARP-1536 and the bispecific antibody asset, the clinical development plan therefor and the therapeutic potential thereof, the Companys plans and expectations with respect to razuprotafib and the development therefor and therapeutic potential thereof in addressing COVID-19 and the intended benefits from the Companys collaboration with Gossamer Bio for GB004, including the continued development of GB004 and the milestone and royalty payments related to the collaboration. Actual results could differ from those projected in any forward-looking statements due to several risk factors. Such factors include, among others, the continued development of GB004 and maintaining and deriving the intended benefits of the Companys collaboration with Gossamer Bio; ability to continue to develop razuprotafib or other product candidates, including in indications related to COVID-19; the inherent uncertainties associated with the drug development process, including uncertainties in regulatory interactions, the design of planned or future clinical trials, commencing clinical trials and enrollment of patients in clinical trials; obtaining any necessary regulatory clearances in order to commence and conduct planned or future clinical trials; the impact of the ongoing COVID-19 pandemic on the Companys business operations, including research and development efforts and the ability of the Company to commence, conduct and complete its planned clinical activities; and competition in the industry in which the Company operates and overall market conditions; and the additional factors set forth in our Annual Report on Form 10-K for the year ended December 31, 2019, as updated by our subsequent Quarterly Reports on Form 10-Q and our other subsequent filings with the SEC.

These forward-looking statements are made as of the date of this press release, and the Company assumes no obligation to update the forward-looking statements, or to update the reasons why actual results could differ from those projected in the forward-looking statements, except as required by law. Investors should consult all the information set forth herein and should also refer to the risk factor disclosure set forth in the reports and other documents the Company files with the SEC available at http://www.sec.gov.

Investors & Media:Gina MarekVP Financegmarek@aerpio.comOrInvestors:Irina KofflerLifeSci Advisorsikoffler@lifesciadvisors.com

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Aerpio Hosting Key Opinion Leader Call on a Novel Mechanism for the Treatment of Glaucoma - GlobeNewswire

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No significant change in education budget – The Nation

Posted: June 13, 2020 at 4:48 pm

Islamabad - The government on Friday made no significant increase in the development and recurring grants of the Higher Education Commission (HEC) for the fiscal year 2020-2021, freezing the funds allocation above Rs93 billion.

The budget documents said that around Rs64 billion have been proposed as recurring grants while Rs29.47 billion on the development side for the fiscal year 2020-21.

In the fiscal year 2019-20, the government had allocated Rs29.196 billion in the Public Sector Development Program (PSDP). Out of the total allocation of Rs2.47 billion of the proposed funds in development, Rs 1.41 billion is from foreign aid.

The PSDP 2020-2021 said that 29 new projects have been introduced by the HEC while it will continue 47 ongoing projects.

The major new schemes on which above Rs100 million will be spent include Academic Collaboration under CPEC Consortium of Universities (Rs175 million), Development of Infrastructure at Lasbela University of Agriculture, Water and Marine Sciences, Lasbela, Uthal Balochistan (Phase-II) (Rs200million), Development of Main Campus, Bacha Khan University, Charsadda (Rs 166.231 million), Development of University of Buner at Swari (Phase-I) (Rs250 million), Development of University of Sahiwal (Rs300 million), Establishment of 21st Century Water Institute at NED University of Engineering & Technology, Karachi (Rs 470 million), Establishment of an Advanced Molecular Genetics and Genomics Diseases Research and Treatment Centre at Dow University of Health Sciences, Karachi (Rs 352.211 million), Establishment of Four New Departments at Balochistan University of Engineering & Technology (BUET), Khuzdar (Rs200 million), Establishment of National Center of Industrial Biotechnology for Pilot Manufacturing of Bio-products using synthetic Biology and Metabolic Engineering Technologies at PMASARID Agriculture University, Rawalpindi (Rs350miilion), Establishment of New Campus for Govt. College Women University Faisalabad (Rs250 million), Establishment of Sukkar IBA University Campus at Mirpur Khas (Rs170 milion), Establishment of the University of Chitral (Phase-I) (Rs200 million), Livestock Sector Development through Capacity Building, Applied Research and Technology Transfer, University of Veterinary & Animal Sciences (UVAS) (Rs 150 million), Pak-UK Knowledge Gateway- HEC (Rs 158 million), Pilot Project for Data Driven Smart Decision Platform for Increased Agriculture Productivity (Rs 441.300), Provision of Accommodation Facilities for Female Students in Public Sector Universities of Islamabad (Umbrella Project) (Rs 300milion), Provision of missing necessities at King Abdullah Campus, University of Azad Jammu and Kashmir, Muzaffarabad (Rs 100 million), Strengthening & Development of Jinnah Sindh Medical University, Karachi ( Phase-I) (Rs200million), Strengthening and Upgradation of Academic Research and Sports Facilities at Liaquat University of Medical & Health Sciences (LUMHS), Jamshoro (Rs 147million), Strengthening of Center of Excellence in Arts & Design (CEAD), Mehran University of Engineering & Technology (MUET), Jamshoro (Rs100 million), Strengthening of Existing Facilities of Government Sadiq College Women University (GSCWU), Bahawalpur (Rs145million), Strengthening of Infrastructure and Academic Programs of Government College Women University Sialkot (Rs100 million).

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What to Know About Coronavirus and Air Conditioning, According to Medical Experts – PopCulture.com

Posted: June 13, 2020 at 4:48 pm

As confirmed coronavirus cases in several former U.S. hotspots have begun to come down, cases are rising sharply in a number of states, a trend that's expected to with less social distancing protocols in place. Now, as the heat of the summer starts to settle in, there are concerns over how air conditioning could affect exposure.

Manish Butte, Ph.D. and associate professor in the department of microbiology, immunology, and molecular genetics at the University of California, spoke to Health about the matter. They believe that public settings with air conditioning might could be risky. The way air conditioning works is by circulating the air rapidly, removing the humidity. "Less humidity in the air promotes evaporation, which causes droplets in the air to dry up and disappear," Butte explains. So, given that water vapor holds onto heat, when there's less of it in the air, the room cools down.

The droplets themselves are mostly water, but they also can contain any pathogens, which includes coronavirus. A single cough can release about 3,000 droplets and a single sneeze can release up to 30,000 or more. These droplets can vary in size and distance traveled, and when an AC is turned on, airflow from the vent pushes these droplets through the air and potentially into other people. As Butte puts it, "the airflow direction is what matters."

Essentially, since air conditioning is recycled air, it can help the droplets and the contagions therein spread farther. Which, in turn, could result in more infections. Recent studies also suggest that the influx of new coronavirus cases are due directly to the rollbacks of social distancing protocols, which began to lift significantly around Memorial Day. There are currently more than two million cases in the U.S., an unfortunate milestone that has yet to be addressed by the White House.

Despite the spike in cases, U.S. Treasury Secretary Steve Mnuchin asserted in an interview with CNBC that similar actions won't be taken by the government in the future. "We can't shut down the economy again. I think we've learned that if you shut down the economy, you're going to create more damage," Mnuchin said. "And not just economic damage, but there are other areas and we've talked about this: medical problems and everything else that get put on hold."

As of Friday, Johns Hopkins University reports that there have been more than 114,000 deaths from COVID-19 in the U.S. More than 423,000 cases have been reported across the globe.

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Just 10 minutes on the treadmill is enough to change 9,000 molecules in your body, a study found – Insider – INSIDER

Posted: June 13, 2020 at 4:48 pm

A 10-minute jog might feel like a cop-out, but a new study by the Stanford University School of Medicine has found that it's enough to alter 9,815 molecules in your body.

There are many existing studies examining the effects exercise has on smaller groups of molecules, but until now no study has committed to the tremendous job of examining how each molecules in the body responds to exercise.

The new study, published in Cell, was small, but it was an ambitious endeavor to document all of the tiny changes to the body's blood that happen post-workout, further highlighting what researchers have known for years: that exercise is crucial for good health.

Researchers still don't know exactly what the impact of each molecular change is, but they do know they are correlated with different bodily functions. Some of the changing molecules were involved in metabolic functions, or digestion or immune system functions, while others were involved in inflammation and insulin resistance levels.

"I had thought, it's only about nine minutes of exercise, how much is going to change? A lot, as it turns out," Snyder told the New York Times.

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This intensive, detail-oriented research was only possible because these researchers had been quantifying the molecules of a group of 100 adult men and women. They chose 36 people from their initial pool, including study author Michael Snyder, the chair of the genetics department at Stanford University.

All the participants were between ages 40 and 75, ranging from fit to overweight, and drew blood from them before and after they ran on a treadmill for about 10 minutes.

A majority of the 17,662 molecules they measured (9,815) either increased or declined after the workout. For some people, the molecular changes lingered for longer.

The study was small, and didn't involve participants over 40, and used only a one-time workout, so Snyder and the other researchers can't make any definite conclusions about molecule levels and fitness at this time.

But Snyder is planning more experiments on people's molecule levels, this time with longer workout times and more participants, so he can determine if a simple blood test could be a good way of determining people's physical fitness.

While researching, Snyder and his team discovered thousands of molecules that might correlate with people's fitness levels. Those molecules included markers of metabolism and immunity.

Based off the results of this study, Snyder and his team have created a development test for the idea of using blood tests as fitness markers. In fact, they've already filed a patent application for it.

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