Category Archives: Human Genetics

I am a medical student interested in genetics, 3D-printing, and developing treatments for diseases.

Hometown: Chicago, IL

Fun Fact About Yourself: I have delivered three babies.

Undergraduate School and Major:

Most Recent Employer and Job Title: United States Senate, Office of U.S. Senator Tammy Duckworth, Medical School Summer Intern

Aside from your classmates, what was the key part of the schools MBA programming that led you to choose this business school and why was it so important to you? I personally learn best through applying knowledge to real problems and believe active learning better prepares me to face the challenges that will arise throughout my career. Ross commitment to action-based learning makes it a perfect fit for my learning style. As a specific example, opportunities at Ross such as MAP (Multidisciplinary Action Project) provide an unparalleled opportunity to test and solidify knowledge before embarking on a business school internship.

What club or activity excites you most at this school? I am very excited to become involved in Ross Design + Business (D+B) Club. As an undergrad at Stanford, I became interested in Design Thinking, which was pioneered by David Kelley at IDEO and the Stanford Design School. I believe that the basic principles of Design Thinking are underutilized in most industries. Getting involved with D+B will be a great opportunity to expand on my Design Thinking skills and enhance my ability to solve problems throughout my career.

What makes you most excited about getting your MBA at Ross? What makes you most nervous about starting business school? I am excited and nervous to start business school for the same reason. My ultimate ambition is to help develop new treatments for patients. I am excited to develop the skills and knowledge necessary to jump-start this goal through many of Ross courses such as Venture Capital Finance and student-run funds like the Social Venture Fund. Like most people, I also find it daunting to jump into a new field as a complete novice. While I have a very strong foundation in science and medical training, I havent had as much exposure to the business side of healthcare. Thankfully, my excitement to start at Ross far outweighs my anxiety.

Describe your biggest accomplishment in your career so far: My biggest accomplishment has been getting into medical school as a person with a disability. Currently, individuals with disabilities can be denied the ability to matriculate into medical school due to physical requirements called technical standards. When applying to medical school, I knew that my test scores and grades were strong enough to go anywhere. However, I needed to find a program willing to work with me. After I was accepted at Michigan, a dean from the medical school called me and said, Once youre in, youre family and we take care of family. This is the culture that permeates throughout the University of Michigan. That is the Michigan Difference.

What led you to pursue an MBA at this point in your career? One of the greatest benefits of completing an MBA at Ross now is that it will provide me with a unique perspective as I embark on the next stage of my medical training. After completing both business and medical school, I intend to complete a medical residency program. Pursuing an MBA prior to my first job as a physician will give me greater insight into the opportunities that exist to improve healthcare from both the patient and provider perspectives.

What other MBA programs did you apply to? I only applied to Ross. During my first year of medical school I designed, 3-D printed, and patented modifications to my physical exam equipment to help me perform my clinical responsibilities. During this process, I worked with faculty and staff from the medical and business schools and Michigans Office of Technology Transfer. Although I contemplated applying to other programs, I realized that attending Ross would allow me to build on the relationships I have already made through the business and medical schools, get an exceptional education, and gain access to one of the strongest alumni networks in the world.

What was the most challenging question you were asked during the admissions process? I was lucky to have a very personable interviewer who made our interaction feel more like a friendly discussion than an interview. The most challenging question might have been about my favorite part of living in Ann Arbor. Its a toss-up between going to the Big House and Cantoro Italian Market.

What have you been doing to prepare yourself for business school? Im currently studying for my second medical licensing exam, which has been rescheduled twice due to the COVID-19 pandemic. In my limited free time, I have taken advantage of several opportunities from Ross including online accounting primers, resume workshops, and career research tutorials. I have also taken time to enjoy some fun virtual hangouts with my incredibly talented classmates!

What was your defining moment and how did it prepare you for business school? My defining moment was taking Human Genetics, the genetics course required of Stanford medical students, as an undergraduate. I had always been interested in genetics and took as many genetics courses as I could fit into my schedule. However, this course was unlike any I had ever taken. Over ten weeks, I learned about numerous rare genetic disorders and the latest advances in genetic testing. Despite learning a tremendous amount, the most valuable aspect of this course was listening to patients with genetic disorders describe the challenges they faced, their frustration with the limited treatment options for rare diseases, and their hope for a cure for their conditions. This course solidified my desire to attend medical school to provide care to those impacted by rare diseases, and inspired me to attend business school to learn how to develop and commercialize affordable treatments for patients.

What is your favorite company and what could business students learn from them? I am a big Costco fan. Business students could learn about establishing a loyal customer base, improving employee satisfaction, and creating a shopping experience with surprises down every aisle.

DONT MISS: MEET THE MICHIGAN ROSS MBA CLASS OF 2022

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Meet the MBA Class of 2022: Christopher Connolly, University of Michigan (Ross) - Poets&Quants

NEW YORK, Dec. 11, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced that the first patient has been dosed in the Phase 1/2 PROCLAIM clinical trial evaluating PR006, an investigational AAV9 gene therapy delivering the GRN gene, for the treatment of frontotemporal dementia patients with GRN mutations (FTD-GRN).

Dosing the first patient in our PROCLAIM clinical trial marks an important milestone in our efforts to advance a potentially disease-modifying treatment for patients with frontotemporal dementia with GRN mutations, said Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer of Prevail. We are excited to progress clinical development of PR006 and to bring forward a much-needed therapy for this rapidly progressing neurodegenerative disease.

The PROCLAIM trial is a Phase 1/2 open-label trial investigating the safety and tolerability of PR006 as well as key biomarkers and exploratory efficacy endpoints. The Company expects to enroll up to 15 patients, and it currently anticipates it will provide a biomarker and safety analysis on a subset of patients enrolled in the PROCLAIM trial in 2021.

Frontotemporal dementia is a devastating condition, with no disease-modifying therapeutic options available, said Dr. JonathanRohrer, principal research fellow at theUniversity College London Queen Square Institute of Neurology.PROCLAIM is an important clinical study which could further increase our understanding of frontotemporal dementia due tomutations in the progranulin gene, and help demonstrate the potential of gene therapy to correct the underlying genetic cause of this condition, potentially slowing or stopping disease progression.

PR006 has been granted Orphan Drug designation for the treatment of FTD and Fast Track designation for the treatment of FTD-GRN by the U.S. Food and Drug Administration, as well as orphan designation for the treatment of FTD by the European Commission.

About Frontotemporal Dementia withGRNMutationsFrontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65, after Alzheimers disease. FTD affects 50,000 to 60,000 people in the U.S. and 80,000 to 110,000 individuals in the European Union. FTD-GRN represents 5-10% of all patients with FTD. FTD results from the progressive degeneration of the frontal and temporal lobes of the brain, which control decision-making, behavior, emotion and language. In FTD-GRN patients, reduced levels of progranulin lead to age-dependent lysosomal dysfunction, neuroinflammation and neurodegeneration. There are no approved treatments for FTD or FTD-GRN.

About Prevail TherapeuticsPrevail is a gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases. The Company is developing PR001 for patients with Parkinsons disease with GBA1mutations (PD-GBA) and neuronopathic Gaucher disease (nGD); PR006 for patients with frontotemporal dementia withGRNmutations (FTD-GRN); and PR004 for patients with certain synucleinopathies.

Prevail was founded by Dr.Asa Abeliovichin 2017, through a collaborative effort withThe Silverstein Foundationfor Parkinsons with GBA and OrbiMed, and is headquartered inNewYork, NY.

Forward-Looking Statements Related to PrevailStatements contained in this press release regarding matters that are not historical facts are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended. Examples of these forward-looking statements include statements concerning the potential for PR006 to be a disease-modifying gene therapy to patients with FTD-GRN; the potential benefits of Fast Track and Orphan Drug designation by the FDA and orphan designation by theFDA and the European Commission; the anticipated timing of enrollment and of reporting of interim data on a subset of patients from the PROCLAIM trial; and the potential for the PROCLAIM trial to increase understanding of frontotemporal dementia and help demonstrate the potential of gene therapy to correct the underlying genetic cause of this condition, potentially slowing or stopping disease progression. Because such statements are subject to risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. These risks and uncertainties include, among others: Prevails novel approach to gene therapy makes it difficult to predict the time, cost and potential success of product candidate development or regulatory approval; Prevails gene therapy programs may not meet safety and efficacy levels needed to support ongoing clinical development or regulatory approval; the regulatory landscape for gene therapy is rigorous, complex, uncertain and subject to change; the fact that gene therapies are novel, complex and difficult to manufacture; and risks relating to the impact on our business of the COVID-19 pandemic or similar public health crises. These and other risks are described more fully in Prevails filings with theSecurities and Exchange Commission(SEC), including the Risk Factors sections of the Companys most recent Annual Report on Form 10-K and Quarterly Report on Form 10-Q filed with theSEC, and its other documents subsequently filed with or furnished to theSEC. All forward-looking statements contained in this press release speak only as of the date on which they were made. Except to the extent required by law, Prevail undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

Media Contact:Lisa QuTen Bridge CommunicationsLQu@tenbridgecommunications.com678-662-9166

Investor Contact:investors@prevailtherapeutics.com

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Prevail Therapeutics Announces First Patient Dosed in Phase 1/2 PROCLAIM Clinical Trial Evaluating PR006 for the Treatment of Frontotemporal Dementia...

I note the obvious differences / in the human family, begins Maya Angelou in her poem, Human Family. Some of us are serious, / some thrive on comedy. She goes on: Ive sailed upon the seven seas / and stopped in every land, / Ive seen the wonders of the world / not yet one common man. Yet she finishes: I note the obvious differences / between each sort and type, / but we are more alike, my friends / than we are unalike.

We are more alike, my friends, / than we are unalike.

Thats not a message we hear a lot of these days. If Ive learned anything from the recent election, its that weve come to a world where the sheer ubiquity of demonization, to quote President-Elect Joseph R. Biden Jr.s Nov. 7 address, has prevented us from seeing those who disagree with us as human beings, let alone alike. Theyre people, too, but weve seemed to forget that.

But what are we trying to get out of all of this moralizing, accusation, and condescension? The election has finished. Now that the match is over and the court lights are being switched off, how should we think about that other side? We cant just denigrate and dehumanize those with whom we dont agree and still expect them to listen to and understand the changes we want to see. We have to listen to them in turn. And to do that, we have to acknowledge that behind every red and blue are human beings, too. Its what Biden said in his address: We are not enemies. We are Americans. Its what Maya Angelou said in her poem, that we are more alike [] than we are unalike. And if we look inside ourselves, well find this to be true.

Because we are indeed more alike than we are unalike, scientifically as well as philosophically. What makes us us, from a biological standpoint, are our genes: stretches of DNA, double helices usually coiled up tight in the nuclei of our cells. DNA is made up of nucleotide base pairs, adenine, thymine, guanine, and cytosine, the building blocks of the genetic code that tells our cellular machinery what kind of proteins to produce. In the mid-nineteenth century, long before we knew what genes or DNA were, an Austrian monk named Gregor Mendel grew forests of purple and white pea plants to speculate that parents might pass down different flavors of a trait to their children. A hundred and fifty years later, we know that Mendel was onto something, and thus the complicated field of genetics was born.

If we consider a gene to be a potentially million base-pair long segment of DNA, then what makes each individual human unique is that across all the 25,000 or so genes that together comprise the human genome, the sequence for no two humans is exactly the same. A combination of inherited differences and random mutations, each humans genome can be thought of as a DNA fingerprint, driving the wealth of diversity that creates human genetic variation.

Most genetic variation results from SNPs pronounced snips or single nucleotide polymorphisms. A SNP is basically a one-base-pair differential between two given variants of a gene, an A instead of a G, for example. That tiny alteration in the genetic code can change one particular Lego block in the massive protein structure that that gene encodes, which then in turn keeps our cells and bodies running. Most of the time, the SNP has no effect on protein function; sometimes, it can have deleterious consequences; and sometimes, it just changes the trait, like the SNP that encodes lactase persistence as opposed to our ancestral lactose intolerance. Often, countless SNPs occur for a given set of genes; thats how we get the rainbow of traits we know as humanity.

Never have we known more about the millions of SNPs in the human genome than we do now. The first sequencing of the human genome in 2000, a beacon of scientific global collaboration, gave us our first base-pair reference for the genetic code. And in 2015, the 1000 Genomes Project found that across thousands of sequenced genomes of 3 billion base pairs each, from 26 different human populations, only 0.6 percent of base pairs differed by various SNPs.

In other words, we are greater than 99 percent genetically similar to our neighbor, no matter what ethnicity or gender or culture they may be. This fact runs so radically contrary to the divisiveness with which weve considered different cultures and populations throughout history a satisfying scientific repudiation to twentieth-century race science. In our biology, we are far, far more alike than we are unalike.

Theres one more aspect of Maya Angelous poem that I didnt appreciate until just now. The poem doesnt say that we are more alike than we are different; it says that we are more alike than we are unalike. In fact, most of Human Family is an appreciation of the obvious differences between people, treating difference as specifically not the antonym of alikeness. Its just like biology: We are all different, with our eye color and hair color and other SNPs that make up our DNA fingerprint, but we as humans are 99 percent alike.

We are all Americans, as Joe Biden said. We have our spectrum of differences, but we cant let those spiral into demonization, dissociating us from each other. We as Americans and as humans are fundamentally more alike than we are unalike, and we need to establish that as a baseline in politics going forward.

Tessa K.J. Haining 23 lives in Adams House. Her column appears on alternate Fridays.

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Differences, Demonization, and DNA | Opinion - Harvard Crimson

November 6, 2020 Ben Palmer's reads

Inside one of Hollywood's most famous hotels amid the Covid-19 epidemic. TheChateau Mormontis one of the most famous hotels in Hollywooda place where rock star Jim Morrison partied and where comedian John Belushi died of a drug overdose. But since the Covid-19 epidemic started and occupancy at the hotel dropped, actors Luka Sabbat and Duke Nicholson, alongside stylist George Cortina, have essentially had the hotel to themselves. Writing forGQ, Samuel Hine goes inside the hotel that Sabbat, Nicholson, and Cortina have used as a "clubhouse, salon, film and photoshoot set, and ultra-exclusive hideaway, all rolled into one."

Why people are inclined to take risks during the Covid-19 epidemic. Roughly nine months into the Covid-19 epidemic, people are still trying to figure out how to live their lives amid highly unusual circumstancesand plenty of people have made risky decisions. Writing forProPublica, Marshall Allen and Meg Marco speak to experts who study human behavior and examine why people are willing to take risks amid the epidemic, including how our pattern of risk perception may not be entirely accurate and how social norms are leading us to make risky decisions.

Scientists find new clues to explain height variations. For years, scientists have struggled to explain variations in height, but a new study presented this week at American Society of Human Genetics' annual meeting is brining them closer to understanding why some people are tall and others aren't. For the study, researchers examined genome data on four million people with European ancestry and they discovered nearly 10,000 DNA markers that appear to explain height variations.

From armadillos to dolphins, US scientists track the spread of the coronavirus among animals. Scientists throughout the United States have been testing animals for the novel coronavirus since America's coronavirus epidemic began. Writing for Kaiser Health News, JoNel Aleccia examines the scope of animal testing for the coronavirus in the countryand shares what the test results reveal about the pathogen's transmission from animals to people.

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Weekend reads: Inside one of Hollywood's most famous hotels amid the Covid-19 epidemic - The Daily Briefing

Two new studies from Rady Childrens Institute for Genomic Medicine (RCIGM) find that parents and doctors of critically ill infants view first line sequencing as beneficial, whether or not a definitive diagnosis is achieved. The studies were both part of the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study and were published in early November in The American Journal of Human Genetics.

This groundbreaking research into stakeholders experiences with sequencing in the NICU provides another justification for incorporating sequencing as standard care of critically ill infants with undiagnosed conditions. RCIGM is one of the worlds leading centers for rapid genomic sequencing of infants and children with serious undiagnosed diseases.

(Thousands of) conditions can be diagnosed using sequencing, says David Dimmock, M.D., senior medical director for RCIGM, lead author of one paper, and a contributing author on the other. However, there has been little research into how parents and clinicians of infants who have undergone sequencing view the process. The results, say the Rady researchers, were surprisingly positive.

The sequencing part of the study used the Illumina Novoseq 6000 and both whole-exome sequencing (WES) and whole-genome sequencing (WGS) were used. Results were confirmed using Sanger sequencing, chromosomal microarrays, or other methods, and were typically returned, on average, in 12 days. A total of 213 infants were enrolled, but those considered very ill were tested and excluded from the study.

In the case of babies who received genomic sequencing, we surveyed their physicians and parents and found that both groups overwhelmingly felt that genetic testing was beneficial, says Stephen Kingsmore, M.D., DSc, president & CEO of RCIGM. When results are positive, sequencing reveals the genetic variation responsible for the childs disease. But what astounded us was the high proportion of both doctors and parents who perceived that this testing had life-changing utility, even in cases when results were negative for genetic disease.

All of the cases for these two studies were from Radys own ICU, although the NSIGHT project encompasses other sites as well. This study included 201 infants who received rapid genomic sequencing. The physicians found genomic sequencing medically useful 93% (42 of 45 cases) of the time when the test was positiveor helped to make a diagnosis. When the test was negative, sequencing was also deemed useful 72% (112 of 156) of the time. According to the physicians, rapid genomic sequencing improved outcomes for 32 infants in the study. Changes in the patients management were more likely when test results were returned rapidly.

Parents also had an overwhelmingly positive view of genomic testing in the ICU setting. Of 161 parents whose children received sequencing, 97% reported that the testing was useful. Only two parents reported that testing increased their stress or confusion. Overall, in 81% of the cases, families and their clinicians agreed that genomic test results were useful. Besides seeing the testing as beneficial, parents were mostly satisfied with the process. The authors of the paper on parents responses wrote, Most parents in this study perceived being adequately informed to consent, understood their childs results, and denied regret or harm from undergoing sequencing.

As part of the study, Findings that explained the hospitalization were always returned, notes Dimmock, and actionable off-target findings were also returned if requested.

Not surprisingly, positive results were viewed as more useful and beneficial than negative results. But families who did not get positive results were eligible for follow-up that might include additional sequencing if warranted.

These studies clearly show that genomic sequencing can be done safely in the NICU, leading to improved communication between families and their healthcare teams, says Dimmock. These results underscore the importance of rapid test results in changing care.

The patients clinicians, typically a neonatologist or pediatric intensivist, were the ones who reported test results to the parents. Dimmock noted that at the start of the study, some physicians who were not specialists in genetics reported anxiety about whether they would be able to do this. This concern was later discussed with many of the othersites in the overall study as well.

Rady has been pioneering the use of rapid diagnostic sequencing in pediatric ICUs. In apilotstudy funded by theState of California, their teamdemonstrated that a rapid sequencing of critically illbabies enrolled in Medi-Cal produced better health outcomes and reduced suffering for the infants while decreasing the cost of their care. The study, named ProjectBaby Bear,helpeddoctors identifythe exact cause of rare, genetic diseasesin an average of three days, instead of the four to six weeks required for standard genetic testing.

The hospital has also published research in Genomic Medicine (2018) showing that whole-genome sequencing and whole-exome sequencing of children with suspected genetic diseases are more useful for establishing a diagnosis than chromosomal microarrays (CMAs), which are the traditional testing method for such cases.

Other stakeholders seem to be watching the progress of programs like Radys as well. In March of this year, Blue Shield of California became the first health plan in the United States to cover rapid and ultra-rapid Whole Genome Sequencing for critically ill babies and children in intensive care with unexplained medical conditions.

The biggest barriers to this type of testing becoming widespread, Dimmock adds, is getting institutional approval for the procedure and reimbursement. The Rady researchers will be looking at their data further with respect to costs to help address that latter challenge.

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First Line Sequencing Seen as a Win for Both Parents and Doctors of Infants in ICU - Clinical OMICs News

SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Childrens Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionanos optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%).

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionanos optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionanos optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.

As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.

Bionanos optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.

The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the contribution of Bionanos technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionanos technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano's Optical Genome Mapping Technology Can Diagnose...

News Release

Thursday, November 5, 2020

National Institutes of Health researchers have discovered a gene in mice that controls the craving for fatty and sugary foods and the desire to exercise. The gene, Prkar2a, is highly expressed in the habenula, a tiny brain region involved in responses to pain, stress, anxiety, sleep and reward. The findings could inform future research to prevent obesity and its accompanying risks for cardiovascular disease and diabetes. The study was conducted by Edra London, Ph.D., a staff scientist in the section on endocrinology and genetics at NIHs Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and colleagues. It appears in JCI Insight.

Prkar2a contains the information needed to make two subunits molecular components of the enzyme protein kinase A. Enzymes speed up chemical reactions, either helping to combine smaller molecules into larger molecules, or to break down larger molecules into smaller ones. Protein kinase A is the central enzyme that speeds reactions inside cells in many species. In a previous study, the NICHD team found that despite being fed a high fat diet, mice lacking functioning copies of Prkar2a were less likely to become obese than wild type mice with normally functioning Prkar2a.

The researchers determined that Prkar2a-negative mice ate less high-fat food than their counterparts, not only when given unlimited access to the food, but also after a fast. Similarly, the Prkar2a negative mice also drank less of a sugar solution than the wild type mice. The Prkar2a-negative mice were also more inclined to exercise, running 2-3 times longer than wild type mice on a treadmill. Female Prkar2a-negative mice were less inclined to consume high fat foods than Prkar2-negative males, while Prkar2-negative males showed less preference for the sugar solution than Prkar2-negative females.

Edra London, Ph.D., staff scientist in the NICHD Section on Endocrinology and Genetics, is available for comment.

London, E et al. Loss of habenular Prkar2a reduces hedonic eating and increases exercise motivation. JCI Insight. 2020.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit https://www.nichd.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH researchers identify gene in mice that controls food cravings, desire to exercise - National Institutes of Health

The neocortex enables us to speak, dream and think. In search of the causes underlying neocortex expansion, researchers at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, together with colleagues at the University Hospital Carl Gustav Carus Dresden, previously identified a number of molecular players. These players typically act cell-intrinsically in the so-called basal progenitors, the stem cells in the developing neocortex with a pivotal role in its expansion.

The researchers now report an additional, novel role of the happiness neurotransmitterserotoninwhich is known to function in thebrainto mediate satisfaction, self-confidence and optimismto act cell-extrinsically as a growth factor for basal progenitors in the developing human, but not mouse, neocortex. Due to this new function, placenta-derived serotonin likely contributed to the evolutionary expansion of the human neocortex.

Abnormal signaling of serotonin and a disturbed expression or mutation of its receptor HTR2A have been observed in various neurodevelopmental and psychiatric disorders, such as Down syndrome, attention deficit hyperactivity disorder and autism. Our findings may help explain how malfunctions of serotonin and its receptor during fetal brain development can lead to congenital disorders and may suggest novel approaches for therapeutic avenues, [said study supervisor Wieland Huttner.]

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Experiencing happiness likely contributed to the dramatic growth and complexity of the human brain - Genetic Literacy Project

THOUSAND OAKS, Calif., Nov. 4, 2020 /PRNewswire/ --Amgen (NASDAQ:AMGN) will present at the 29th Annual Credit Suisse Virtual Healthcare Conference at 4:15 p.m. ET on Monday, Nov. 9, 2020, in Scottsdale, Ariz. Murdo Gordon, executive vice president of Global Commercial Operations at Amgen and Peter H. Griffith, executive vice president and chief financial officer, will present at the conference. Live audio of the presentation can be accessed from the Events Calendar on Amgen's website, http://www.amgen.com, under Investors. A replay of the webcast will also be available on Amgen's website for at least 90 days following the event.

About AmgenAmgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing and delivering innovative human therapeutics. This approach begins by using tools like advanced human genetics to unravel the complexities of disease and understand the fundamentals of human biology.

Amgen focuses on areas of high unmet medical need and leverages its expertise to strive for solutions that improve health outcomes and dramatically improve people's lives. A biotechnology pioneer since 1980, Amgen has grown to beone ofthe world'sleadingindependent biotechnology companies, has reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.

For more information, visitwww.amgen.comand follow us onwww.twitter.com/amgen.

CONTACT: Amgen, Thousand OaksMegan Fox, 805-447-1423 (media)Trish Rowland, 805-447-5631(media)Arvind Sood, 805-447-1060 (investors)

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Amgen To Present At The 29th Annual Credit Suisse Healthcare Conference - WFMZ Allentown

NEW YORK, Nov. 02, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced a decisive victory in the arbitration proceeding brought in 2019 by Alector Inc. against Prevails founder and Chief Executive Officer, Asa Abeliovich, M.D., Ph.D.

The arbitrator rejected all of Alectors principal claims against Dr. Abeliovich, including all claims alleging misappropriation or misuse of trade secrets. Significantly, the arbitrator rejected Alectors claims that Dr. Abeliovich used Alector trade secrets or confidential information in connection with his work on behalf of Prevail, as well as Alectors claim that it has rights to Prevails patents and patent applications. Prevail was not a party to this arbitration.

We appreciate the arbitrators thorough and independent review of this matter. This decision vindicates Dr. Abeliovich and rules in his favor on all significant issues, said Francois Nader, M.D., Non-Executive Chairman of Prevail. With this positive outcome, Prevail is looking forward to advancing our pipeline for the benefit of patients.

I am pleased with the decision, which confirms Prevails ownership of its intellectual property, said Dr. Abeliovich. Our team continues to advance our pipeline and remains committed to our critical mission of developing novel, urgently needed therapies for patients with neurodegenerative disorders such as Parkinsons disease and frontotemporal dementia.

The only relief granted to Alector by the arbitrator was permission to seek reimbursement for a portion of Alectors out-of-pocket costs and fees in connection with certain document retention-related claims. Alector will need to provide sufficient proof of such amounts.

About Prevail TherapeuticsPrevail is a clinical stage gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases. The company is developing PR001 for patients with Parkinsons disease with GBA1 mutations (PD-GBA) and neuronopathic Gaucher disease (nGD); PR006 for patients with frontotemporal dementia with GRN mutations (FTD-GRN); and PR004 for patients with certain synucleinopathies.

Prevail was founded by Dr. Asa Abeliovich in 2017, through a collaborative effort with The Silverstein Foundation for Parkinsons with GBA and OrbiMed, and is headquartered in New York, NY.

Forward-Looking Statements Related to Prevail

Statements contained in this press release regarding matters that are not historical facts are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended. Examples of these forward-looking statements include statements concerning the amount of costs and legal fees that Prevail may be required to reimburse. Because such statements are subject to risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. These risks and uncertainties include, among others: Prevails novel approach to gene therapy makes it difficult to predict the time, cost and potential success of product candidate development or regulatory approval; Prevails gene therapy programs may not meet safety and efficacy levels needed to support ongoing clinical development or regulatory approval; the regulatory landscape for gene therapy is rigorous, complex, uncertain and subject to change; the fact that gene therapies are novel, complex and difficult to manufacture; and risks relating to the impact on our business of the COVID-19 pandemic or similar public health crises. These and other risks are described more fully in Prevails filings with the Securities and Exchange Commission (SEC), including the Risk Factors section of the Companys Quarterly Report on Form 10-Q for the period ended June 30, 2020, filed with the SEC on August 11, 2020, and its other documents subsequently filed with or furnished to the SEC. All forward-looking statements contained in this press release speak only as of the date on which they were made. Except to the extent required by law, Prevail undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

Media ContactGina NugentTen Bridge Communications gina@tenbridgecommunications.com 617-460-3579

Investor Contactinvestors@prevailtherapeutics.com

Link:
Prevail Therapeutics Announces Decisive Victory in Arbitration Brought by Alector against Prevail's CEO - GlobeNewswire