Articles tagged with Genetic Medicine
Researchers have identified a genetic mutation and faulty development process that causes a debilitating brain-based disorder in children. The mutation, in the alpha-N-catenin gene (CTNNA2), leads to abnormal cell adhesion and impaired neuronal migration, resulting in severe intellectual impairment and limited life expectancy.
The publication demonstrates the company's technology induces efficient and precise in vivo gene editing using homologous recombination, a natural DNA correction pathway. This early academic research translated into a scalable process for genetic medicines development.
An expert panel found that only one (SCN5A) of the 21 genes typically included on a BrS genetic test has a definitive disease association. The panel disputed the associations with 20 other genes, which could lead to undue harm in patients and family members.
The Scripps Translational Science Institute has received a renewed $34 million funding from the National Institutes of Health to advance individualized medicine through genomic and digital technologies. The institute will form partnerships with other institutions to improve translational research and train future leaders in biomedicine.
Priya Prasad, MD, has received the David L. Rimoin Inspiring Excellence Award for her platform presentation on population-based hereditary cancer risk assessment during screening mammography. The award recognizes her commitment to enhancing the appropriate utilization of screening for hereditary cancers.
Erin Riggs, MS, CGC received the ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on resolving copy number variant discrepancies. The award aims to recognize genetic counselors' contributions to clinical genetics services.
Dr. Steven Harrison received the 2018 Richard King Trainee Award for his article on resolving variant interpretations submitted to ClinVar, published in Genetics in Medicine. The award recognizes high-quality research by trainees in genetics and genomics.
Dr. Nishitha Pillai, a second-year medical genetics resident at Baylor College of Medicine, has been awarded the 2018-2019 Sanofi Genzyme/ACMG Foundation Next Generation Fellowship Award for her work in Medical Biochemical Genetics. The award will provide clinical and research experience to support her training.
Dr. Judith G. Hall, a pioneering geneticist, has been awarded the David L. Rimoin Lifetime Achievement Award for her groundbreaking research and teaching on human growth and connective tissue disorders. She is recognized for helping establish medical genetics as an accredited clinical specialty.
A Stanford-led study of nearly half a million people in the UK Biobank database found that higher levels of physical activity and fitness are associated with lower risks of heart attacks and stroke. Even those with a high genetic risk for heart disease can benefit from regular exercise.
A recent study found that up to 40% of direct-to-consumer genetic tests provide incorrect readings in raw data. The findings highlight the importance of seeking clinical test validation to ensure accurate patient care.
A new multi-gene test predicts a high risk for early-onset heart disease in 1 out of 53 individuals, surpassing the prevalence of a rare genetic defect. The study suggests that combining polygenic screening with current testing could identify five-fold more cases with a genetic explanation.
The Universal Genomics Instructor Handbook and Toolkit provides a comprehensive 'how-to' guide for implementing genomics education in various medical specialties. The toolkit contains four exercises and resources for clinicians to gain introductory training in genomic medicine.
The University of Pennsylvania School of Medicine has received two highly competitive post-doctoral Institutional Training Grants for genomic science. The grants will support training programs in translational medicine and informatics, as well as the ethical, legal, and social implications of genetics and genomics.
The lab, led by Zhe Han, Ph.D., aims to identify key histone-modifying genes involved in heart development and create personalized fly models for individual patients. By understanding the role of these genes, researchers hope to predict CHD risk and potentially cure the condition using gene-editing approaches.
New technologies enable basic scientists to build upon clinical genomicist work, promoting a virtuous cycle of bench-to-bedside collaboration. The researchers' recommendations prioritize data sharing, clinically relevant genes, and better data-management practices.
Allison Mitchell, MS, CGC, has received the ACMG Foundation Carolyn Mills Lovell Award for her work on clinical implementation of novel, preemptive pharmacogenomic testing for newborns. The award recognizes genetic counselors' expanding roles in genomic medicine and their contributions to patient care.
Leroy Hubert, Jr., Ph.D., was awarded the David L. Rimoin Inspiring Excellence Award for his research on a novel diagnostic biomarker for Peroxisomal Biogenesis Disorder. The award recognizes his contributions to medical genetics and genomic medicine.
Dr. Tamanna Roshan Lal, a board-certified Pediatrician, received the $75,000 award to support her clinical genetics subspecialty training in biochemical genetics. The fellowship will provide advanced training in Clinical Biochemical Genetics and Lysosomal Storage Diseases.
Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
Dr. Rebecca Ahrens-Nicklas received the 2017 Richard King Trainee Award for her research on medium-chain acyl-CoA dehydrogenase deficiency in exclusively breastfed neonates. Her study identified the risk of early decompensation, highlighting the importance of close management of feeding difficulties.
Dr. Laird G. Jackson received the 2017 ACMG Foundation David L. Rimoin Lifetime Achievement Award for his pioneering work in prenatal genetic testing and pediatric genetics. He is recognized for his dedication to teaching and mentorship, as well as his groundbreaking research on Cornelia de Lange Syndrome.
A research team developed a polygenic hazard score to estimate an individual's Alzheimer disease risk based on their genetic data and age. The score predicted those with the highest risk were several times more likely to develop AD, with earlier expected onset by up to 10 years.
Researchers have created a polygenic hazard score that predicts age-specific risk of developing Alzheimer's disease based on genetic information. The score identifies individuals with higher genetic risk who develop AD at an earlier age, even among those without the APOE E4 allele.
A Swedish twin registry study reveals that bilateral tinnitus has a strong genetic component, especially in men, while unilateral tinnitus is more influenced by environmental factors. The findings have important clinical implications for diagnosis, treatment, and public health.
Researchers analyzed over 60,000 individuals and found five with extreme numbers of genetic changes that couldn't be explained by random events. These copy number variants were predominantly gains in genes and present in all cells, suggesting they occurred early in embryonic development.
A recent study has identified 83 DNA variants that modulate human height, with some affecting it by more than 2 cm. The discovery is significant for understanding the genetic basis of complex diseases such as diabetes and schizophrenia, and may lead to the development of new therapeutic strategies.
Researchers found a significant excess of mutations in five genes previously implicated only in rare forms of epilepsy in individuals with common forms of the disorder. The study identified these genes as contributing to epilepsy risk in approximately 8 percent of people with familial non-acquired focal epilepsy.
The American College of Medical Genetics and Genomics advocates for extensive sharing of genomic data to improve patient care. Responsible data sharing will provide critical information for clinical laboratories and treating physicians, leading to advancements in personalized medicine.
Researchers used whole exome sequencing to analyze nearly 7,400 patients, identifying a genetic cause in 28 percent. The study shows that multiple genes can be involved in complex diseases, leading to imprecise diagnoses. A unified analysis combining clinical and genetic features provides more precise diagnoses.
The American College of Medical Genetics and Genomics has released updated recommendations for reporting secondary findings in clinical exome and genome sequencing. The new list, ACMG SF v2.0, includes four additional genes and one removed gene, totaling 59 medically actionable genes recommended for return. The updates aim to provide s...
Researchers analyzed over 150 years of genetic data to gain insight into the genetic diversity of ataxias, a neurodegenerative disorder affecting movement and balance. The study sheds light on cellular pathways and protein networks in ataxia, potentially leading to new diagnostic and treatment options.
The Hastings Center Report explores the implications of precision medicine on ethics and society. The article highlights how the term change from 'personalized' to 'precision' medicine brings new ethical and social concerns, including promoting medical paternalism. It also discusses the risks of stigmatizing certain populations and pri...
The American College of Medical Genetics and Genomics has released an updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy. The guidelines provide recommendations for obstetric care providers and patients regarding the use of noninvasive prenatal screening (NIPS) in prenatal practice.
A genetic mutation in the lysyl oxidase gene has been identified as a cause of thoracic aortic aneurysms and dissections. Researchers have found that this mutation disrupts the structure and strength of the aorta, leading to increased risk of rupture.
Dr. David Valle will receive the Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education at ASHG's 66th Annual Meeting. He has made significant contributions to genetics education through various programs and publications, including the Predoctoral Training Program in Human Genetics.
A study found that genetically raised CRP levels are linked to a reduced risk of schizophrenia. The researchers also discovered associations between elevated CRP and increased risks for arthritis, bipolar disorder, and high blood pressure.
The ACMG Foundation has received a $165,000 commitment from Pfizer to provide fellowship grants for clinical genetics training. This funding will support the education and research of fellows in medical genetics.
The LawSeqSM project aims to clarify current genomic law, address gaps, and generate recommendations for a forward-looking legal foundation. This 3-year project brings together experts from academia, industry, and clinical care to create guidance on translating genomics into clinical application.
The Global Alliance for Genomics and Health presents a vision for a common framework of principles, protocols, and interoperable systems to enable responsible data sharing. The alliance has created tools such as the Genomics API and the Framework for Responsible Sharing of Genomic and Health Related Data.
Chronic fatigue syndrome (CFS) affects millions of Americans, causing profound fatigue, cognitive dysfunction, and sleep abnormalities. A new study led by Professor Derya Unutmaz aims to develop better diagnostic tools and personalized treatments for the disease.
Two papers address challenges in interpreting clinical genome and exome sequencing results. The CSER Consortium has developed approaches for using sequencing to diagnose rare diseases, cancer, and other conditions. A new set of guidelines may help different labs interpret sequencing results consistently.
The Sanofi Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics supports training programs advancing education, research, and standards of practice in medical genetics. The award grants $75,000/year to two recipients' institutions for clinical and research experience.
Katherine M. Dempsey, a genetic counseling student at the University of Texas, has won the 2016 Richard King Trainee Award for her groundbreaking research on mismatch repair deficient tumors and Lynch Syndrome. Her work explores the inherent heterogeneity in families with apparent predisposition to colon cancer.
Jessica Tenney, MD, wins the 2016 ACMG Foundation/PerkinElmer Diagnostics travel award for her poster presentation on acrofacial dysotosis. The award recognizes her scientific merit and supports the development of medical genetic researchers.
Dr. Prasit Phowthongkum is the recipient of the 2016 Horizon Pharma/ACMG Foundation Award, which provides $40,000 per year to support his one-year fellowship training in clinical genetics. The award aims to advance education, research, and standards of practice in medical genetics.
Gozde Akgumus, a genetic counselor at the Children's Hospital of Philadelphia, received the 2016 Carolyn Mills Lovell Award for her work in cancer diagnostics. The award recognizes the contributions of laboratory genetic counselors to patient care and genomic research.
Dr. Bianca Russell has been awarded the David L. Rimoin Inspiring Excellence Award for her groundbreaking research on a novel skeletal dysplasia caused by homozygous mutations in BMPR1A. This achievement recognizes her dedication to advancing medical genetics and genomics.
A recent study led by Enno Klußmann and Veronika Anita Deák discovered that the GSKIP protein plays a crucial role in embryonic development, with implications for understanding Goldenhar syndrome. The research found a high degree of correlation between mouse and human genes responsible for the condition.
Researchers at Children's Mercy Kansas City have achieved a 26-hour turnaround time for rapid whole-genome sequencing and genetic diagnosis in critically-ill infants, known as STAT-Seq. This technology can identify mutations associated with approximately 5,300 known genetic diseases.
The American College of Medical Genetics and Genomics has released a new 'Scope of Practice' document to clarify the changing role of medical genetics specialists. The document defines the specialty's scope, including genetic consultations, counseling, testing, and education.
ClinGen, a comprehensive program, aims to evaluate the clinical relevance of genetic variants for precision medicine. The database will facilitate data sharing among laboratories and clinicians, improving understanding of genetic variation's role in human health and disease.
Scientists at TGen discovered the likely cause of severe muscle weakness in six previously undiagnosed children using state-of-the-art genetic technology. The researchers identified pathogenic variants in genes such as CACNA1S, RYR1, COL6A3, and COL6A6, providing new insights into rare myopathies.
The ACMG Foundation presents the first recipient of the David L. Rimoin Inspiring Excellence Award to Dr. Marcus Miller for his platform presentation on Metabolomic Analysis Uncovers Significant Trimethylamine N-oxide Production. The award supports research in metabolomics and human genetic disorders.
The ACMG Foundation has announced the inaugural recipient of the Carolyn Mills Lovell Award, presented to Stephanie Harris CGC for her poster presentation on hypertrophic cardiomyopathy research. The award aims to recognize genetic counselors' contributions to clinical genetics and includes a $1000 cash prize.
Dr. Mindy H. Li, MD, received the 2015 ACMG Foundation/PerkinElmer diagnostics Travel Award for her groundbreaking research on phenotypes and electronic health record systems in pediatric individuals with intellectual disability. The award recognizes her scientific merit and supports medical genetic researchers.
Patricia Hall, Ph.D., of Emory University received the 2015 Richard King Trainee Award for her high-quality research on newborn screening published in Genetics in Medicine. The award recognizes outstanding contributions to the field of medical genetics and genomics.
Biomedical ethicists review current arguments on disclosing genetic information of the deceased and offer suggestions for developing policies. They propose passive postmortem disclosure policies, where access to genetic info is provided at family members' request under certain circumstances.
A new study reveals that genetics curricula are improving, but still lag behind, with minimal instruction in years three and four of medical school. Medical schools are adopting innovative teaching strategies to incorporate genomics into training.
Researchers at Children's Mercy Hospital identified the CLPB gene associated with a new pediatric mitochondrial syndrome, characterized by cataracts, psychomotor regression, epilepsy, and death in early childhood. The discovery demonstrates the importance of basic research into human CPLB gene function and paves the way for diagnosing ...