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Category Archives: Gene Medicine

Why sequencing the human genome failed to produce big breakthroughs in disease – The Conversation US

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winning journalist imagined 2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate, said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health, predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clinton stated the Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recent article in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation of bipolar disorder, schizophrenia and alcoholism, among other conditions and behaviors. These articles drew massive attention in the popular media, but were soon retracted or failed attempts at replication. These reevaluations completely undermined the initial conclusions, which often had relied on misguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such as Huntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy. Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

[ Youre smart and curious about the world. So are The Conversations authors and editors. You can read us daily by subscribing to our newsletter. ]

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Why sequencing the human genome failed to produce big breakthroughs in disease - The Conversation US

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Almac and Pfizer slash gene therapy labeling times – OutSourcing-Pharma.com

In 2018, Pfizer initiated a Phase Ib clinical trial of its gene therapy treatment for Duchenne muscular dystrophy (DMD). The AAV9 gene therapy, PF-06939926, is designed to provide DMD patients with a form of the dystrophin gene at the root of the condition, thereby countering the progressive muscle degeneration and weakness that characterizes the disease.

Pfizer planned to dose 15 patients with the gene therapy, which must be stored at -70C. In light of those factors, Pfizer opted for a patient-led supply model that would only ship product once a subject was enrolled and ready for treatment.

The model made the lag between a site requesting and receiving product critical, as during that time patients with a progressive disease would be waiting for a potentially beneficial treatment. Pfizers goal was to package and ship the gene therapy to patients within two weeks.

That goal created challenges. Typically, the lag between the ordering and shipment of trial materials is six to eight weeks. Almac had already reduced that lead time by applying LEAN packaging and labelling principles but needed to shave a further two weeks off to meet Pfizers demands.

To do so, Almacs clinical services unit developed a dedicated packaging and labelling process. The process, which Almac executed at its US facility in Souderton, Pennsylvania, resulted in a 12-day lead time for the first patient enrolled in the trial.

Almac provided the packaging specification within two business days. Pfizer granted approval in one working day. Packaging and labelling took place four to five days after receipt of the initial request.

The case study presented by Almac covers the shipment of a gene therapy to a single patient. Yet, the process it describes has broader relevance for drug developers and contract packagers in an era defined by therapies targeting small patient populations.

In the four years preceding late 2019, the number of clinical trials of advanced therapy medicinal products (ATMP), such as cell and gene therapies, increased by two thirds, according to data tracked by the Alliance for Regenerative Medicine. Many ATMPs place new pressures on supply chains, which are adapting to quickly get medicines to patients.

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Almac and Pfizer slash gene therapy labeling times - OutSourcing-Pharma.com

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Why Sequencing the Human Genome Failed to Change the Face of Science – The National Interest Online

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winning journalist imagined 2020 would look like when she reported on the Human Genome Project back in 1996.

A new era in medicine?

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate, said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health, predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clinton stated the Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recent article in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

Causation is complex

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation of bipolar disorder, schizophrenia and alcoholism, among other conditions and behaviors. These articles drew massive attention in the popular media, but were soon retracted or failed attempts at replication. These reevaluations completely undermined the initial conclusions, which often had relied on misguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such as Huntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy. Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

A new era for biologists

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

[ Youre smart and curious about the world. So are The Conversations authors and editors. You can read us daily by subscribing to our newsletter. ]

Ari Berkowitz, Presidential Professor of Biology; Director, Cellular & Behavioral Neurobiology Graduate Program, University of Oklahoma

This article is republished from The Conversation under a Creative Commons license. Read the original article.

Image: Reuters

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Why Sequencing the Human Genome Failed to Change the Face of Science - The National Interest Online

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Abeona Therapeutics Announces Positive Interim Data from MPS III Gene Therapy Programs Presented at WORLDSymposium | DNA RNA and Cells | News Channels…

DetailsCategory: DNA RNA and CellsPublished on Thursday, 13 February 2020 10:39Hits: 90

Neurocognitive development of young MPS IIIA patients preserved up to two years post ABO-102 treatment

Dose-dependent and sustained reductions in disease-specific biomarkers denotes clear biologic effects of ABO-102 and ABO-101

First patient treated in cohort 3 of ABO-101 MPS IIIB trial; total enrollment eight patients

Favorable safety profile observed in both studies

NEW YORK, NY and CLEVELAND, OH, USA I February 12, 2020 I Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today announced that researchers from the Abigail Wexner Research Institute (AWRI) at Nationwide Childrens Hospital presented positive interim data from two ongoing Phase I/II clinical trials evaluating ABO-102 and ABO-101, the Companys investigational gene therapies for MPS IIIA and MPS IIIB, respectively, at WORLDSymposium. Results from the Transpher A study demonstrated that MPS IIIA patients younger than 30 months treated with ABO-102 in dose cohort 3 continue to show neurocognitive development 18 months to two years after treatment. Reductions in cerebrospinal fluid (CSF) heparan sulfate (HS), denoting enzyme activity in the central nervous system, and liver volume reductions remain stable two years after treatment. Results from the Transpher B study showed that ABO-101 also improved multiple disease biomarkers providing clear evidence of a biologic effect in patients with MPS IIIB. Dosing in cohort 2 is complete and the first patient in cohort 3 was treated in late January, with a total of 8 patients treated to date. Both therapies have been well-tolerated to date. Abeona licensed the AAV9-based gene therapy technology underpinning ABO-102 and ABO-101 from AWRI at Nationwide Childrens where it was developed.

Todays presentations are available on abeonatherapeutics.com by following this link:https://investors.abeonatherapeutics.com/news-events

In total, the new results continue to show that early treatment with ABO-102 can help preserve neurodevelopment in children with MPS IIIA. These data will inform our ongoing discussions with the FDA and EMA, as we work towards providing a regulatory update in the second quarter, said Joo Siffert, M.D., Chief Executive Officer. For ABO-101, the reductions in disease-specific biomarkers are encouraging and demonstrate a clear biologic effect, which parallels that seen in the MPS IIIA study. We look forward to enrolling the Transpher B study as expeditiously as possible.

Results from the Transpher A study, an ongoing Phase I/II clinical trial with ABO-102 showed that:

The interim results presented today add to evidence suggesting a single intravenous dose of ABO-102 AAV9-based gene therapy has the potential to help MPS IIIA patients sustain neurocognitive development when they are treated at a young age, said Kevin Flanigan, M.D., Director, Center for Gene Therapy at AWRI at Nationwide Children's and Transpher A study investigator. These data showed that ABO-102 can deliver a functional copy of the SGSH gene to cells of the CNS and peripheral organs, as evidenced by the clinical benefits in neurocognition and biophysical measures and improvements in disease-specific biomarkers.

Sites in the U.S., Spain, and Australia continue to enroll eligible patients into the Transpher A study. Additional information about the trial is available at AbeonaTrials.com and ClinicalTrials.gov.

Results from cohorts 1 and 2 (n=7) of the Transpher B study, an ongoing Phase I/II clinical trial showed that ABO-101 treatment demonstrated biologic effect in patients with MPS IIIB, as evidenced by initial improvements in multiple disease biomarkers associated with abnormal accumulation of glycosaminoglycans (GAGs) in the brain and throughout the body:

The Transpher B study provides hope that we may one day alter the course of this devastating disease, said Kim McBride, M.D., Principal Investigator at AWRI at Nationwide Children's and co-investigator for the Transpher B study. The impact on disease biomarkers in the early stages of follow up suggest the potential of ABO-101 gene therapy to break down the accumulation of glycosaminoglycans that underlie MPS IIIB pathology. I look forward to working with fellow investigators to gather more data from the study, including results from high-dose cohort 3.

Dose cohort 2 has been completed and dosing is underway in cohort 3 (n=1). Sites in the U.S., Spain, and France continue to enroll eligible patients into the Transpher B study. Additional information about the trial is available at abeonatherapeutics.com/clinical-trials and ClinicalTrials.gov.

About The Transpher A StudyThe Transpher A Study (NCT02716246) is an ongoing, two-year, open-label, dose-escalation, Phase I/II global clinical trial assessing ABO-102 for the treatment of patients with Sanfilippo syndrome type A (MPS IIIA). The study, also known as ABT-001, is intended for patients 6 months to 2 years of age, or patients older than 2 years with a cognitive Developmental Quotient of 60% or above. The study has enrolled 14 patients to date across three dose-escalating cohorts (N=3, N=3, N=8) and remains open for enrollment. The gene therapy ABO-102 is delivered using AAV9 technology via a single-dose intravenous infusion. The study primary endpoints are neurodevelopment and safety, with secondary endpoints including behavior evaluations, quality of life, enzyme activity in cerebrospinal fluid (CSF) and plasma, heparan sulfate levels in CSF, plasma and urine, and brain and liver volume.

About The Transpher B StudyThe Transpher B Study (NCT03315182) is an ongoing, two-year, open-label, dose-escalation, Phase I/II global clinical trial assessing ABO-101 for the treatment of patients with Sanfilippo syndrome type B (MPS IIIB). The study, also known as ABT-002, is intended for patients 6 months to 2 years of age, or patients older than 2 years with a cognitive Developmental Quotient of 60% or above. The study has enrolled 8 patients to date across three dose-escalating cohorts (N=2, N=5, N=1) and remains open for enrollment. The gene therapy ABO-101 is delivered using AAV9 technology via a single-dose intravenous infusion. The study primary endpoints are neurodevelopment and safety, with secondary endpoints including behavior evaluations, quality of life, enzyme activity in cerebrospinal fluid (CSF) and plasma, heparan sulfate levels in CSF, plasma and urine, and brain and liver volume.

About ABO-102ABO-102 is a novel gene therapy in Phase I/II development for Sanfilippo syndrome type A (MPS IIIA), a rare lysosomal storage disease with no approved treatment that primarily affects the central nervous system (CNS). ABO-102 is dosed in a one-time intravenous infusion using a self-complementary AAV9 vector to deliver a functional copy of the SGSH gene to cells of the CNS and peripheral organs. The therapy is designed to address the underlying SGSH enzyme deficiency responsible for abnormal accumulation of glycosaminoglycans in the brain and throughout the body that results in progressive cell damage and neurodevelopmental and physical decline. In the U.S., Abeona holds Regenerative Medicine Advanced Therapy, Fast Track, Rare Pediatric Disease, and Orphan Drug designations for the ABO-102 clinical program. In the EU, the Company holds PRIME and Orphan medicinal product designations.

About ABO-101ABO-101 is a novel gene therapy in Phase I/II development for Sanfilippo syndrome type B (MPS IIIB), a rare lysosomal storage disease with no approved therapy that primarily affects the central nervous system (CNS). ABO-101 is dosed in a one-time intravenous infusion using a self-complementary AAV9 vector to deliver a functional copy of the NAGLU gene to cells of the CNS and peripheral tissues. The therapy is designed to address the underlying NAGLU enzyme deficiency responsible for abnormal accumulation of glycosaminoglycans in the brain and throughout the body that results in progressive cell damage and neurodevelopmental and physical decline. In the U.S., Abeona holds Fast Track and Rare Pediatric Disease designations for ABO-101 and Orphan Drug designation in both the U.S. and EU.

About Sanfilippo Syndrome Type A (MPS IIIA)Sanfilippo syndrome type A (MPS IIIA) is a rare, fatal lysosomal storage disease with no approved treatment that primarily affects the CNS and is characterized by rapid neurodevelopmental and physical decline. Children with MPS IIIA present with progressive language and cognitive decline and behavioral abnormalities. Other symptoms include sleep problems and frequent ear infections. Additionally, distinctive facial features with thick eyebrows or a unibrow, full lips and excessive body hair for ones age, and liver/spleen enlargement are also present in early childhood. MPS IIIA is caused by genetic mutations that lead to a deficiency in the SGSH enzyme responsible for breaking down glycosaminoglycans, which accumulate in cells throughout the body resulting in rapid health decline associated with the disorder.

About Sanfilippo syndrome type B (MPS IIIB)Sanfilippo syndrome type B (MPS IIIB) is a rare and fatal lysosomal storage disease with no approved therapy that primarily affects the central nervous system and is characterized by rapid neurodevelopmental and physical decline. Children with MPS IIIB present with progressive language and cognitive decline and behavioral abnormalities. Other symptoms include sleep problems and frequent ear infections. Additionally, distinctive signs such as facial features with thick eyebrows or a unibrow, full lips and excessive body hair for ones age and liver/spleen enlargement are also present. The underlying cause of MPS IIIB is a deficiency in the NAGLU enzyme responsible for breaking down glycosaminoglycans, which accumulate throughout the body resulting in rapid decline associated with the disorder.

About Abeona TherapeuticsAbeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing gene and cell therapies for serious diseases. The Companys clinical programs include EB-101, its autologous, gene-corrected cell therapy for recessive dystrophic epidermolysis bullosa, as well as ABO-102 and ABO-101, novel AAV9-based gene therapies for Sanfilippo syndrome types A and B (MPS IIIA and MPS IIIB), respectively. The Companys portfolio of AAV9-based gene therapies also features ABO-202 and ABO-201 for CLN1 disease and CLN3 disease, respectively. Abeona has received numerous regulatory designations from the FDA and EMA for its pipeline candidates, including Regenerative Medicine Advanced Therapy designation for two candidates (EB-101 and ABO-102). http://www.abeonatherapeutics.com

SOURCE: Abeona Therapeutics

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Abeona Therapeutics Announces Positive Interim Data from MPS III Gene Therapy Programs Presented at WORLDSymposium | DNA RNA and Cells | News Channels...

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Vapers Show Chemical Changes in Their Genome Linked to Cancer – Global Health News Wire

This is the latest study from a Keck School of Medicine of USC research team to show e-cigarette users develop cancer-related molecular changes similar to smokers. Image Credit: CASEY CHIN

Biologically important changes in DNA seen in smokers are also being found in people who vape, according to a new study published in the journalEpigenetics.

A team of scientists at the Keck School of Medicine of USC have found people who vape exhibit similar chemical modifications in their overall genome and in parts of their DNA as people who smoke cigarettes.

These specific chemical alterations, also known as epigenetic changes, can cause genes to malfunction and are commonly found in nearly all types of human cancer as well as other serious diseases.

The findings add to a growing list of health concerns associated with vaping, which is perceived by many as a safer alternative to smoking. E-cigarette use has soared among youth, with more than 25 percent of high school students now using the products, according to the CDC.

The new study, led by Ahmad Besaratinia, PhD, associate professor at the Keck School of Medicine of USC, examined a group of people matched for age, gender and race, divided equally into three categories: vapers only, smokers only and a control group of people who neither vaped nor smoked.

Blood was drawn from each of the participants and tested for changes in levels of two specific chemical tags attached to DNA that are known to impact gene activity and/or function. These chemical tags include: (1) methyl groups in a specific DNA sequence, named Long Interspersed Nucleotide Element 1 (LINE-1); and (2) hydroxymethyl groups in the genome overall. Changes in the levels of these chemical tags, which are important for genomic stability and regulation of gene expression, occur in various stages of development, as well as in diseases such as cancer.

Of the 45 study participants, vapers and smokers both showed significant reduction in the levels of both chemical tags compared to the control group. This is the first study to show that vapers, like smokers, have these biologically important changes detectable in their blood cells.

That doesnt mean that these people are going to develop cancer, said Besaratinia. But what we are seeing is that the same changes in chemical tags detectable in tumors from cancer patients are also found in people who vape or smoke, presumably due to exposure to cancer-causing chemicals present in cigarette smoke and, generally at much lower levels, in electronic cigarettes vapor.

This is the newest study Besaratinias team has done on vapers and smokers. Their earlier study published last year (IJMS, 2019) examined changes in gene expression in epithelial cells taken from the mouths of vapers and smokers compared to a control group. In that study, both vapers and smokers showed abnormal gene expression in a large number of genes linked to cancer.

Our new study adds an important piece to that puzzle by demonstrating that epigenetic mechanisms, specifically changes in chemical tags attached to the DNA, may contribute to the abnormal expression of genes in vapers and smokers alike, said Besaratinia.

He and his team plan to continue their research. The next step is to look at the whole genome and identify all the genes targeted by these two chemical changes in vapers versus smokers.

Considering the established role many genes play in human diseases, this investigation should provide invaluable information, which may have immediate public health and policy implications, said Besaratinia. The epidemic of teen vaping and the recent outbreak of vaping-related severe lung injury and deaths in the U.S. underscore the importance of generating scientific evidence on which future regulations for electronic cigarette manufacturing, marketing, and distribution can be based.

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Vapers Show Chemical Changes in Their Genome Linked to Cancer - Global Health News Wire

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Press Registration Reminder! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting – PRNewswire

BETHESDA, Md., Feb. 12, 2020 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) heads to a new destination in sunny San Antonio, Texas in 2020. Named one of the fastest growing meetings in the USA by Trade Show Executive Magazine, the ACMG Annual Clinical Genetics Meeting continues to provide groundbreaking research and news about the latest advances in genetics, genomics and personalized medicine. To be held March 17-21, the 2020 ACMG Annual Meeting will feature more than 40 scientific sessions as well as three Short Courses, a variety of workshops, TED-Style talks and satellite symposia, and more than 750 poster presentations on emerging areas of genetic and genomic medicine.

Interview those at the forefront in medical genetics and genomics, connect in person with new sources and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied into medical practice.

Topics include gene editing, cancer genetics, molecular genomics, exome sequencing, pre- and perinatal genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to attend and cover the ACMG Annual Meeting on a complimentary basis. Contact Reymar Santos at rsantos@acmg.net for the Press Registration Invitation Code, which will be needed to register at http://www.acmgmeeting.net.

Abstracts of presentations are available online at http://www.acmgmeeting.net. A few 2020 ACMG Annual Meeting highlights include:

Program Highlights:

Cutting-Edge Scientific Concurrent Sessions:

Three Half-Day Genetics Short Courses on Monday, March 16 and Tuesday, March 17:

Photo/TV Opportunity: The ACMG Foundation for Genetic and Genomic Medicine will present bicycles to local children with rare genetic diseases at the Annual ACMG Foundation Day of Caring on Friday, March 20 from 10:30 AM 11:00 AM at the Henry B. Gonzlez Convention Center.

Social Media for the 2020 ACMG Annual Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook, Twitterand Instagramand by usingthe hashtag #ACMGMtg20 for meeting-related tweets and posts.

Note be sure to book your hotel reservations early.

The ACMG Annual Meeting website has extensive information at http://www.acmgmeeting.net.

About the American College of Medical Genetics and Genomics (ACMG) and the ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Raye Alford, PhD ralford@acmg.net

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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Press Registration Reminder! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting - PRNewswire

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