Articles tagged with Genetic Medicine
The NIH will renew funding for the Clinical Genome (ClinGen) resource, which collects and archives information on clinically relevant genes and genomic variants. This expansion aims to improve the effectiveness, transparency, and validity of clinical genomics research.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers have created brain organoids from people with 16p11.2 genomic variations, which exhibit differences in brain size seen in individuals with autism spectrum disorder. The study revealed new information about molecular mechanisms that malfunction when this region is disrupted, providing opportunities for therapeutic intervention.
Researchers found no negative impact on families during the infant's first year of life after genome sequencing, even if genetic risk or carrier status were revealed. The study showed lower self- and partner-blame in families with sequencing information, suggesting it provided some degree of peace of mind.
Isaac Hilton is using non-integrating episomal DNA viruses to create a new platform technology for cell and gene therapies. He aims to hijack these viruses to safely program medicinal functions in human cells.
The Newborn Screening Translational Research Network (NBSTRN) has launched a new podcast called Newborn Screening SPOTlight, which shares stories of how newborn screening research saves lives every day. The podcast is co-hosted by Drs. Amy Brower and Kee Chan and features interviews with experts in the field.
A pilot study at Baylor College of Medicine found that genetic testing led to clinically significant findings in approximately one-third of patients. The results showed a high rate of genetically actionable issues, with implications on patient care and clinical management.
A study found that half of individuals who initially refused to receive secondary genomic findings changed their minds after receiving more detailed information. The research suggests that healthcare providers should give patients multiple opportunities to make and revise their choice.
Christina Tise, MD, PhD, and Daniel Pomerantz, MD, have been selected as recipients of the 2021 Pfizer/ACMG Foundation Next Generation Fellowship Awards to pursue postgraduate training in clinical laboratory biochemical genetics and medical biochemical genetics. The awards support their one-year fellowships at Stanford University and C...
Catherine A. Ziats, MD, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on alterations in respiratory epithelial gene SPDEF and severe disease responses to COVID-19 infection. The award recognizes her contributions to advancing our understanding of host genetic factors associated with severe COVID-19.
Adam Guenzel, PhD has received the prestigious Richard King Trainee Award for his outstanding publication on Krabbe disease diagnosis and monitoring. The award recognizes Dr. Guenzel's research contributions to improving newborn screening protocols and novel biochemical assays.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Researchers identify a new genetic disease causing delayed intellectual development and cataracts in children, with the COPB1 gene variant as the underlying cause. The study uses tadpoles to mimic human gene variants, demonstrating the link between the gene and disease.
Researchers found that every person has two to four hidden genetic defects, which can lead to diseases if inherited from both parents. Consanguineous couples are at high risk, with 20% of cases showing increased risks for serious disorders in offspring.
A study from Karolinska Institutet in Sweden analyzed the results of whole genome sequencing for over 3,200 patients with rare diseases, resulting in molecular diagnoses for 1,287 patients. The researchers found pathogenic mutations in over 750 genes and discovered 17 novel disease genes.
A Cleveland Clinic-led team developed a platform, My Personal Mutanome (MPM), to analyze genetic mutations and their responses to drugs in cancer. The platform integrates clinical data, protein-protein interactions, and functional sites to identify actionable mutations for personalized medicine.
Researchers have identified a rare genetic bone disorder by using precision medicine strategies, uncovering mutations in the LAMA5 gene that cause extreme bone fragility and skeletal deformity. The study also revealed a new signaling pathway governing skeleton formation, which could be used for common bone conditions.
A £992,000 grant will support a collaboration between the Universities of Portsmouth and Southampton to use tadpoles to discover genetic changes causing rare diseases. The study aims to provide targeted interventions for patients and their families, improving care and outcomes.
A vast majority of doctors and parents believe genomic sequencing is beneficial for managing care in infants with diseases of unknown origin. The test reveals genetic variations responsible for the child's disease, even if results are negative.
A new study published in European Child & Adolescent Psychiatry found that the death of a family pet can lead to prolonged and profound grief in children, potentially triggering depression. Researchers analyzed data from over 6,000 children and found that the emotional attachment to pets can result in measurable psychological distress.
Researchers at Mount Sinai Hospital have discovered a novel genetic sequencing technology that identified the cause and treatment of a previously unknown severe auto-inflammatory syndrome. The technology, tailored to the patient's own genetic code, pinpointed an unknown mutation in the JAK1 gene causing permanent immune system activation.
The interface of genomic information with the electronic health record emphasizes the importance of patient autonomy, access, and privacy in integrating genomic data into EHRs. The document provides guidelines on data storage, access, and usage, aiming to optimize benefits while minimizing harm, and recommends standards for interoperab...
Dr. Chaya N. Murali, a pediatric geneticist, received the 2020 Richard King Award for her outstanding research on patient-reported outcomes in children with osteogenesis imperfecta. Her award-winning article demonstrated the utility of a new data collection instrument.
Thelma Alessandra Sugrañes, a medical genetics resident, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on age of first cancer diagnosis and survival in Bloom syndrome. The award recognizes her outstanding research on monogenic cancer predisposition syndromes.
Dr. R. Rodney Howell is recognized for his innovative work in newborn screening, which has saved countless lives. He will receive the first Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine.
Clara Hildebrandt, MD, has been awarded the 2020 Sanofi Genzyme/ACMG Foundation Next Generation Fellowship Award. The award supports her one-year medical biochemical fellowship at Boston Children's Hospital to explore barriers to timely administration of enzyme replacement therapy.
Katelynn Sagaser received the 2020 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her research on hypophosphatasia, a previously unrecognized disease. The award recognizes genetic counselors' vital contribution to patient care and highlights their role in thorough interpretation of genetic testing results.
Researchers at Baylor College of Medicine have identified a genetic signature combining certain maternal and fetal gene variants that are associated with a higher risk of preeclampsia. This genetic signature could be used to identify women at risk and prepare in advance to manage their condition.
The University of Utah Health is launching a project that uses rapid whole genome sequencing to identify genetic disorders in newborns, aiming to cut diagnosis time to 72 hours or less. The goal is to personalize treatment and improve outcomes for critically ill infants with genetic-related diseases.
The new ACMG Points to Consider document provides a comprehensive framework for the safe and effective use of fetal exome sequencing in prenatal diagnosis. The guidelines address concerns around turnaround time, variant reporting, and patient consent, aiming to improve patient care and reproductive choices.
Researchers at Karolinska Institutet developed a new analytical tool to diagnose intellectual disability through whole-genome sequencing, discovering point mutations, structural chromosome aberrations, and expansions. This method was found to be more effective than traditional gene dose array tests in identifying genetic causes.
Researchers used fruit flies to study the genetic mechanisms behind ADHD and identified areas of the genome that influence response to treatment. This discovery has significant implications for the development of personalized medicine, enabling tailored treatments based on individual genetic profiles.
A Rutgers-led study uses artificial intelligence to examine genetic signatures of Crohn's disease, revealing previously undiscovered genes linked to the illness. The AI method accurately predicted whether thousands of people had the disease, holding promise for improved diagnosis and treatment.
Researchers at Massachusetts General Hospital found that dietary fat quality and genetic risk of diabetes work independently, and a diet high in polyunsaturated fats can reduce type 2 diabetes risk. The study's findings support the deployment of lifestyle or dietary interventions for all gradients of genetic risk.
Researchers at UNIGE identified genetic causes of susceptibility to phthalates, a common endocrine disruptor, which affects fertility and sperm quality. The study revealed that epigenetic changes caused by phthalate exposure can be passed down to future generations.
Jin Yun Helen Chen, MS, CGC, was awarded the 2019 ACMG Foundation Lovell Genetic Counselor Award for her work on Phenotype Genotype Variability among Sibships with Spinal Muscular Atrophy. The award recognizes the critical contribution of genetic counselors to clinical genetics and newborn screening.
The ACMG Foundation established a student travel scholarship fund to address the genetic workforce deficit, supporting medical and graduate students attending the 2019 ACMG Annual Clinical Genetics Meeting. The scholarship fund will benefit recipients through educational sessions, peer engagement, and research opportunities.
Dr. Bryce Seifert, Laboratory Genetics and Genomics Fellow at Duke University School of Medicine, has been awarded the 2019 Richard King Trainee Award for his outstanding research publications in Genetics in Medicine.
Dr. Roger E. Stevenson, a senior clinical and research geneticist at the Greenwood Genetic Center, has received the 2019 ACMG Foundation David L. Rimoin Lifetime Achievement Award. The award recognizes his vision in founding the center, groundbreaking research on X-linked intellectual disability, and leadership in establishing programs...
Sarah Brnich, an MD-PhD student, received the award for her work on classifying germline genetic variants by their functional consequence. Her research aims to improve clinical variant interpretation and incorporate functional data into guidelines.
Researchers identified six age-related subgroups of acute erythroid leukemia with distinct mutations and patterns of gene expression. These findings suggest that genomic alterations can predict treatment outcomes, offering new insights into the diagnosis and treatment of this aggressive cancer.
The partnership aims to advance genetic diagnosis and therapy for patients with muscle wasting neuromuscular diseases, including motor neurone disease and muscular dystrophy. AIIMS will launch its first patient trials, providing insight into the different genes present in India's populations.
A recent study published in JAMA Psychiatry found that higher levels of physical activity may causally reduce the risk of depression. The study used Mendelian randomization and genetic data to support this claim, revealing no causal relationship between depression and physical activity.
The American College of Medical Genetics and Genomics (ACMG) has released new guidelines to help providers develop policies/procedures for re contacting patients after revising genomic test results. The guidelines aim to address the complex questions surrounding patient re contact, including legal, ethical, and practical issues.
Researchers have created an atlas of genetic factors associated with estimated bone mineral density, explaining 20% of the genetic variance linked to osteoporosis. The study identifies over 500 genetic determinants, providing promising targets for novel therapeutics to prevent or treat the disease.
A new study found that the mutated MLX gene impairs the immune system by promoting inflammasome activation, leading to chronic inflammation and arterial disease. The discovery provides potential treatments, such as tocilizumab, which has shown efficacy in other inflammatory diseases.
The precision medicine initiative is shifting healthcare from population-based approaches to individualized care focusing on each patient's genetic makeup. This shift raises new legal, policy, and ethical issues, including liability, trust, governance, and data access and quality.
A team of UA researchers discovered a previously unknown genetic effect that can raise or reduce the risk of coronary artery disease or ischemic stroke. People with the beneficial version of the genetic factor have less inflammatory cells lining their blood vessels, making them more resistant to building up plaque.
The NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are advancing knowledge connecting human genomic variation to human health. Researchers have developed a Gene-Disease Validity Framework to evaluate gene variants in diseases, improving the implementation of genomic medicine and patient care.
The American College of Medical Genetics and Genomics has received a five-year, $13 million contract renewal to continue its work in newborn screening. The Newborn Screening Translational Research Network (NBSTRN) will support groundbreaking research and build upon its decade-long efforts.
The Brigham Genomic Medicine program uses state-of-the-art genomic technologies to diagnose and discover genetic underpinnings of disease. By analyzing genomic data with a multidisciplinary team, the program has identified culprit genes for 30 families, providing critical information for diagnostics and treatment.
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.