Isabelle Cooperstein, a PhD candidate, receives the ACMG Foundation/Revvity Early Career Travel Award for her work on developing computational tools for rare disease patients. Her research integrates phenotypic and genomic data to create accessible solutions.
The ACMG Foundation has presented four Next Generation Fellowship Awards to talented clinicians, researchers, and scientists. These winners are making significant impact in the field of genomics, advancing diagnosis, and patient care. The award recognizes their dedication to innovative approaches and commitment to improving healthcare ...
Dr. Monica Wojcik, a neonatologist and clinical geneticist, receives the prestigious award for her innovative research and clinical practice focused on rare diseases affecting fetuses and newborns. Her work aims to improve diagnosis, treatment, and health services for families affected by these conditions.
Researchers found evidence of a genetic mixing event between two ancient populations around 1.5 million years ago, which contributed to the modern human species. The study suggests a more complex story of human evolution than previously thought, with different groups developing separately before reuniting.
Researchers at Baylor College of Medicine have identified a rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a severe form of epilepsy and developmental delay. The study reports a highly complex rearrangement of chromosomes 3 and 5, leading to a rare condition known as 5q14.3 microdeletion syndrome.
Researchers have uncovered the Fulani people's genetic diversity, tracing their history back to the Green Sahara period. The study found correlations between culture, geography, and genetics, highlighting the importance of Fulani subsistence strategies in shaping their genetic landscape.
A new study maps the complete human genome recombination, identifying areas that balance diversity with stability. The research reveals key differences between men and women in recombination patterns, offering insights into infertility, genetic diversity, and disease risk.
The alliance aims to generate evidence supporting national guideline inclusion and healthcare provider adoption of Myriad's Precise MRD test. The studies will explore the test's utility in breast, gastrointestinal, genitourinary and gynecological cancers.
A recent study found that host genetics, particularly major histocompatibility complex (MHC) class-II polymorphisms, drives individual differences in influenza vaccine response. The research also presents a novel vaccine platform that broadens antibody and T cell responses against diverse influenza subtypes.
The American College of Medical Genetics and Genomics has published a new evidence-based clinical guideline for phenylalanine hydroxylase deficiency diagnosis and management. The guideline provides recommendations for treatment, implementation considerations, research priorities, and economic considerations to improve patient outcomes.
A new framework developed by UCLA researchers suggests that genetic data from large libraries of sequenced human genomes can improve the predictive power of genetics in determining how well a patient will respond to commonly prescribed medications and the severity of any side effects. The study, which analyzed data from over 342,000 pe...
Global experts and medical professionals gathered in Tashkent to address rare diseases, enhancing patient care. The forum highlighted key findings on diagnosis and treatment of rare genetic disorders in Uzbekistan.
A new study from deCODE genetics/Amgen highlights the importance of Body Mass Index (BMI) in disease pathology, suggesting that reducing BMI could lower the risk of various diseases. For some conditions like fatty liver disease and glucose intolerance, the genetic link to disease disappears when BMI is taken into account.
Scientists at WashU Medicine have successfully forced glioblastoma cells to display immune system targets, potentially making them vulnerable to immunotherapies. The strategy involves a combination of two FDA-approved epigenetic therapy drugs that induce the production of unusual proteins called neoantigens.
Researchers found that AI tools can link genetic variations with diseases like diabetes without considering the complexity of genetics. A new statistical method can reduce false positives, but proxy information studies also introduce misleading correlations, warns Qiongshi Lu.
Researchers have identified new pathogenic pathways in gout through a genome-wide association analysis, providing promising targets for the prevention and treatment of this painful form of arthritis. The study highlights the importance of genetics in gout research and offers potential insights into other illnesses and disorders.
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
A genome-wide association study found that inherited genetics is a key factor in why some people develop gout, while others don't. The research identified new targets for preventing gout attacks and hopes to lead to improved treatment options.
Researchers have identified a novel small-molecule inhibitor of SARS-CoV-2 using chemical genetics. The compound, designated 172, demonstrates broad-spectrum antiviral activity against multiple human pathogenic coronaviruses and different SARS-CoV-2 variants of concern.
Researchers at the Icahn School of Medicine at Mount Sinai have identified a novel genetic variant associated with intellectual capacities and educational outcomes. Tandem repeats in the AFF3 gene were found to disrupt genetic instructions, impacting cognitive abilities.
A genome-wide association study found that three sequence variants in genes CCDC141 and SCN10A increase the risk of rhythm disturbances in individuals with accessory pathways. These variants are common, affecting up to 62% of carriers, and associate with increased conduction velocity and heart rate regulation.
A new machine-learning model developed by a University of Arkansas student improves upon existing genotype-by-environmental interaction models, achieving higher prediction accuracy. The model uses feature engineering to process environmental data, leading to a 7% improvement in mean prediction accuracy.
Scientists have discovered a rare sequence variant in the CCDC201 gene that causes primary ovarian insufficiency, leading to an average of nine years earlier menopause. Women carrying two copies of this variant experience almost half of carriers having children after age 30.
Scientists at deCODE genetics have discovered rare sequence variants in ITSN1 linked to Parkinson's Disease. These variants may contribute to disease pathogenesis through CDC42 dysregulation and dopaminergic neuron degeneration.
The paper explores evolving landscape of genetics research into obesity, emphasizing both new discoveries and challenges. Researchers highlight complexity of body weight regulation and advocate for precise phenotyping methods targeting relevant and refined phenotypes related to adiposity.
A new model developed by Penn State researchers more accurately predicts the causal relationship between genetic and environmental factors in disease development. The study found that lifestyle and environmental factors play a larger role than previously believed, offering new opportunities to mitigate disease risk.
Scientists at deCODE Genetics found that genome variants drive the correlation between DNA methylation and gene expression. The research uses new nanopore sequencing technology to analyze DNA sequences in real-time, revealing a link between noncoding sequence variants and diseases.
Researchers found evidence supporting the idea that genes play a crucial role in shaping children's development during the first three years after birth. The study aims to encourage investment in research focused on infancy, which has significant potential to aid early interventions and improve child development.
A new study identifies a strong recessive component in Alzheimer's disease, with high risks in homozygotes and compound heterozygotes. The R47H variant in the TREM2 gene disrupts Aβ clearance, leading to amyloid plaque accumulation and increased risk of Alzheimer's.
A new study from deCODE genetics analyzed 64,806 Icelanders to understand the rate and nature of mitochondrial DNA mutations and their maternal transmission. The research documents hypermutability at some positions in mtDNA, including the A>G mutation, which occurs frequently but typically disappears after several generations.
Researchers have identified over 2000 protein-coding genes that change significantly between summer and winter in the starfish's reproductive process. This study provides a promising breakthrough in understanding how crown-of-thorns starfish communicate during reproduction, which could lead to the development of natural pest control me...
Scientists have discovered over 100 new genomic regions associated with blood pressure, explaining up to 12% of the differences between individuals. The findings also suggest potential new drug targets for blood pressure treatment and could lead to tailored treatments for hypertension.
A study published in Cell Reports found that environmental factors play a significant role in shaping metacognitive abilities, including mentalizing. The researchers used twin studies to investigate the interplay between genetics and environment on cognitive processing.
A recent White Paper published in the Canadian Journal of Cardiology analyzes the current understanding of genetics in atrial fibrillation and recommends screening for genetic heart disease in early onset AF cases. This may lead to identification of life-threatening ventricular cardiomyopathy and channelopathy syndromes, highlighting t...
Rory James Tinker, MD, has been selected as the recipient of the 2024 Richard King Award for his outstanding publication on phenotypic presentation of Mendelian disease. The award recognizes his research's impact on identifying, diagnosing, and treating rare disorders.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
A statewide genomic screening program enrolls first 20,000 participants, providing information on genetic risk factors for diseases such as hereditary breast and ovarian cancer. The program aims to empower communities to understand the value of research and increase participation rates among underrepresented groups.
The American College of Medical Genetics and Genomics (ACMG) has released a points to consider statement on the safety and efficacy of polygenic risk score assessment for embryo selection. The statement concludes that there is insufficient evidence to support its clinical utility, and further research is needed.
A new study suggests that teaching genomic concepts in a 'humane genomics education' framework can help students disbelieve genetic essentialism and develop a more nuanced understanding of race as a social concept. The approach has been shown to reduce racist beliefs and promote a more scientifically accurate understanding of genetics.
A recent twin study published in Human Brain Mapping has found that genetics play a significant role in brain activity during emotional and cognitive tasks, with some factors being exclusive to environment. The study used functional MRI scans on twins to analyze the relationship between genetics and environment in brain function.
Research found associations between prenatal substance exposure and neurobehavioral problems in children, but controlling for environment and genetics eliminated many links. Prenatal alcohol exposure was significantly correlated with sleep problems and mental health issues despite compensatory brain responses.
Researchers at McGill University propose a new biological classification system for Parkinson's disease, considering alpha-synuclein, neurodegeneration, and genetics. This shift in thinking aims to diagnose the disease earlier, targeting specific patient groups with more common biology, improving treatment development success.
A new study has identified genetic variants that protect against pericarditis, a disease characterized by inflammation of the heart's surrounding sac. The findings provide important insights into the pathogenesis of the disease and suggest that interleukin-1 may be an important contributor to pericarditis.
A team of scientists has developed a statistical technique called BridgePRS to enhance disease prediction in people of non-European ancestry, particularly those of African descent. This advancement aims to reduce health care inequities and enable more personalized medical interventions based on genetic information.
Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.
A comprehensive study found clonal hematopoiesis is prevalent in the elderly, associated with increased risk of hematological neoplasia and mortality. Smoking accelerates its development, while genetic variants predispose individuals to the condition.
A large international study has identified genetic variants associated with rare forms of migraine, providing insights into novel therapeutic targets. The study found associations with 44 variants, including three rare variants that point to distinct pathologies underlying different types of migraine.
A large-scale proteomics study from deCODE Genetics analyzed data from over 50,000 individuals across European, African, and Asian ancestry. The study identified over 80,000 associations between genetic variants and protein levels, as well as over 500,000 associations between diseases and other traits with protein levels.
A genome-wide association study reveals 34 genes potentially involved in choosing a vegetarian diet, including those related to lipid metabolism and brain function. The findings suggest that genetics play a role in the ability to subsist on a vegetarian diet.
A new study published in Nature Genetics has identified over 4,000 genetic variants linked to brain structure, revealing how the brain's organization is shaped by genetics. The research found that different sets of genes contribute to folding and size of the cortex, with some genes linked to larger or smaller head sizes.
Researchers discovered a deep connection between the sums-of-digits function from number theory and phenotype mutational robustness in genetics. The maximum robustness is proportional to the logarithm of the fraction of all possible sequences that map to a phenotype, with a correction given by the sums of digits function s_k(n).
A new clinical practice resource provides valuable information for healthcare professionals caring for individuals with pathogenic variants in the CHEK2 gene. The resource assesses personalized risk estimates based on family history, specific variant, and other factors.
A groundbreaking Oxford study reveals a significant genetic component to people's probability of participating in genetic studies. The research identified detectable 'footprints' in genetics data that can be exploited statistically to enhance research accuracy for both participants and non-participants alike.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
An international study has introduced a genetics-based breast cancer precision prevention service using polygenic risk scores and telemedicine solutions. Preliminary results show that this approach can identify women at high risk of breast cancer and provide personalized screening recommendations.
The American College of Medical Genetics and Genomics has released an updated minimum variant set of 100 CFTR gene variants for carrier screening, replacing the previous 23-variant list. The new recommendations apply to genetic testing to determine carrier status, not diagnosis or newborn screening.
Researchers used machine learning to build predictive models for nine common diseases based on genetic information and blood biomarkers. Blood biomarkers provided better prediction in nearly all cases, especially for near-term risk, suggesting direct links between some measures and the pre-symptomatic phase of disease.
Scientists have identified a genetic locus associated with voice pitch, found in the ABCC9 gene, which influences voice characteristics in both men and women. The study also reveals links between voice pitch and cardiovascular health, highlighting the complex relationship between vocal traits and human biology.
A new Northwestern University study finds that CT scans are more effective than genetics in predicting the risk of heart disease in middle-aged individuals. The study used data from over 3,200 adults and found that adding CT scan data to conventional risk factors improved the accuracy of risk prediction.