A Yale University study found that genetic factors control developmental abnormalities, including pregnancy loss and autism. Researchers examined placental data from nearly 50 sets of twins and discovered similar frequencies of abnormal cell growths in identical twins, suggesting genetics play a key role.
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.
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.
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.
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...
A new study published in PLOS Genetics has found that genetic differences may contribute to higher rates of chronic pain in women. The study analyzed genetic variants associated with chronic pain in 209,093 women and 178,556 men, revealing sex-specific differences in gene activity.
Researchers found that multiple genes and genetic variants are linked to flight performance in flies, with a central gene called pickpocket 23 regulating interactions. This study highlights the importance of genome-wide association studies in understanding complex traits like flight, which involve numerous genes.
Researchers have found genetic variants increasing ADHD risk and aggressive behavior in children, shared with the general population. These variants affect aggression in both children with and without ADHD, highlighting a complex interplay between genetics and environment.
Researchers are using Drosophila melanogaster fruit flies to explore genetic underpinnings of susceptibility to environmental toxicants and develop precision toxicology. The study aims to identify molecular key event biomarkers in non-mammalian models that predict adverse health outcomes.
Researchers analyzed 18,463 Finnish samples to track genetic ancestry from 1923 to 1987. The study found significant changes associated with WWII and urbanization, capturing a detailed history of Finland's population in space and time.
Researchers analyzed ancient human DNA to understand the impact of tuberculosis on European populations. The study found that a specific variant of the TYK2 gene was associated with an increased risk of becoming ill after infection with Mycobacterium tuberculosis.
A USC-led study finds that Native Hawaiians with more Polynesian ancestry are at higher risk for type 2 diabetes, heart failure, and obesity. The study analyzed the genomes of 3,940 Native Hawaiians and found an 11% increase in heart failure risk per 10% increase in Polynesian ancestry.
A paper in the European Journal of Human Genetics warns that coercive DNA collection is unethical and damaging to medical research. The authors call for a mass reassessment of literature and require further information on consent and ethical approvals.
Noncognitive skills, distinct from cognitive abilities, significantly impact educational attainment and life outcomes. The study identified 157 genetic locations related to these skills, which contribute equally to the heritability of educational attainment as cognitive ability.
An international team of researchers has connected specific genetic signals with specific areas of the face, identifying 203 genomic regions that play a role in human facial development. The study sheds light on craniofacial malformations such as cleft lip and palate, as well as evolutionary differences between various populations.
A large-scale study found that genetics contribute to most cases of extremely large or small birth weights in full-term babies. However, the role of genetics was less significant in the smallest three per cent of babies, suggesting other factors such as placental health may be involved.
Studies identified genetic variants associated with COVID-19 severity, including a locus on chromosome 3 and novel genes. Researchers also explored therapeutic strategies and transmission dynamics of the virus.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
Recent studies in human genetics reveal insights into transcriptional regulation, gene expression, and mutation's role in shaping the human genome. These findings have important implications for understanding human health and disease, with applications in fields such as medicine and evolutionary biology.
A recent study published in Nature Genetics has shed light on the genetic diversity of European flint maize, revealing distinct differences between lines. The research highlights the importance of sequencing the entire pangenome of a species to fully understand its genetics.
A study by Baylor College of Medicine researchers integrates whole-exome sequencing with untargeted metabolomics to identify genetic causes of undiagnosed conditions. The integrated analysis informed 44% of cases, reclassifying variants as likely benign or disease-causing and confirming clinical diagnoses in 21 cases.
Researchers found strong correlations between a colony's defensiveness and specific gene frequencies, rather than individual bee's genes. The study suggests that the home environment, such as island living with human populations, may be a better predictor of gentleness in honey bees.
Researchers at York University found that the mixing of African and European genetics led to hyper-aggression in invasive African hybrid honey bees (AHB). The study sequenced genomes of AHB colonies and identified mutations associated with their aggressive behavior.
Researchers found that hybrids become more productive as genetic distance between parents increases, contradicting previous contradictory studies. The team's study provides clarity to the issue, enabling rational selection of crossing partners for breeding new hybrid varieties.
A recent study analyzing data from over three million individuals found widespread sex-differential participation bias, suggesting that men and women are more likely to participate in genetic studies based on different characteristics. This bias can impact the accuracy of results and conclusions drawn from genetic association studies.
Clinical genetics services are struggling to cope with the influx of direct-to-consumer (DTC) genetic testing referrals, with many GPs ill-equipped to interpret results. The lack of resources and funding is exacerbating the issue, with only 10% of DTC test results validated.
A new study reveals that most cultural changes in the Near East had no lasting effect on the genetics of local people in Beirut. Only three periods - Iron Age, Alexander the Great's arrival, and Ottoman Empire domination - left a lasting genetic impact.
The American College of Medical Genetics and Genomics has released an updated technical standard for CFTR variant testing, incorporating revised information about cystic fibrosis and the CFTR gene. The new guidelines aim to improve the accuracy and efficiency of genetic screening and diagnosis.
A new study identifies lactate, a molecule produced by a common gut microbe, as a key memory-boosting molecular messenger. The researchers found that mice fed specific probiotics experienced improved memory, with increased levels of gamma-aminobutyric acid (GABA) in their brains.
A new children's book introduces genetics to youngsters of primary school age through a rhyming narrative, explaining DNA and the role of nature and nurture in making each person unique. The book aims to engage young children with science, building on research that shows teaching genetics before evolution improves pupil understanding.
A mathematical model developed by Rutgers University scientists can help explain why many pregnancies and IVF attempts fail. The study highlights the importance of understanding errors in female cell division, which increase with age and are linked to aneuploidy, a leading cause of early miscarriage and IVF failure.
A new study identified over 1,000 genetic variations in 450 genes linked to moderate to severe myopia. The research suggests that genetics can play a significant role in myopia, with specific genes involved in circadian rhythm and eye pigmentation.
The ACMG Foundation/PerkinElmer Diagnostics Travel Award recognizes Dr. Kuntal Sen and Dr. Shagun Kaur's innovative primary care clinic initiative, which aims to provide dedicated care for children with genetic disorders.
The ACMG Foundation for Genetic and Genomic Medicine has presented the Takeda/ACMG Foundation Next Generation Fellowship Awards to Dr. Aixa M. Gonzalez Garcia and Dr. Chen-Han Wilfred Wu. The awards provide funding for medical biochemical genetics subspecialty fellowship and clinical laboratory biochemical genetics training, respectively.
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.
A study of 4,788 child-parent pairs and 2,380 siblings found that 36-58% of coffee intake is genetically determined, with environmental factors influencing the amount consumed. The correlation between parent's and offspring's coffee drinking increased with each quantile, suggesting a complex interplay between genetics and environment.
A new genetic study reveals a complex US population structure, including fine-scale insights into recent history. The findings show diverse patterns among Hispanic/Latino and Asian American populations, shedding light on their ancestral origins and migration patterns.
Geneticist Bonnie Bassler received the $500,000 Gruber Genetics Prize for her pioneering research on quorum sensing, a process by which bacteria communicate using molecular languages. Her discoveries have expanded our understanding of the microbial world and opened up new approaches to promoting health and preventing disease.
Researchers analyzed genetics of schizophrenia in South African Xhosa population, finding rare genetic mutations linked to the disorder. The study sheds light on potential mechanisms for effective treatments and informs understanding of schizophrenia across human populations.
A study by Cornell University researchers found that hemp plants' propensity to become unusable due to high THC levels is determined by genetics, not environmental factors. The team discovered a correlation between the plants' genetics and chemical production, providing new insights into breeding low-THC hemp varieties.
A new study from University of Pennsylvania sociologist Wendy Roth found that DIY DNA tests do not lead to a greater belief in racial essentialism. However, those who understand more about genetics going in become more skeptical, while those with less understanding believe in essentialism more strongly.
A large genetic risk study found that adoptees had a slightly elevated genetic risk for depression, schizophrenia, and neuroticism. The adoption process did not increase the impact of this genetic risk, suggesting that both environment and genetics play a role in mental health problems.
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.
The American College of Medical Genetics and Genomics recommends evaluating all breast cancer patients for hereditary predisposition. However, they caution that there is insufficient evidence to support genetic testing for BRCA1/2 or multi-gene panels in all breast cancer patients.
A new analysis confirms human genomic data can predict success in clinical trials, with genetically supported drug targets twice as likely to be approved. Historically, drugs targeting proteins with amino acid sequence changes linked to the disease have the best chance of approval.
Researchers found that two genes, HNF4A and HNF4G, help burn dietary fat in intestinal stem cells, which may increase cancer risk on a high-fat diet. Altered stem cell functions can lead to colon cancer.
A study published in the American Journal of Human Genetics has identified 57 genetic variations associated with declines in blood oxygen levels during sleep. These findings provide insight into the hereditary basis of this trait and its relationship to sleep disorders and lung diseases.
A survey of 1,718 individuals from 69 countries found Hispanic and Latinx people willing to participate in genomics research studies, but with notable differences when segmented by country of birth and residence. Researchers emphasize the need for diversity in genetics research, including community-oriented approaches and cultural rele...
Molly Schumer and Bérénice Benayoun are the 2019 recipients of the Rosalind Franklin Young Investigator Award. Schumer investigates hybridization in non-mammalian organisms, while Benayoun explores genomic regulation and aging in humans. The award recognizes outstanding genetics research.
Researchers have identified a new neurodevelopmental syndrome caused by mutations in the NKAP gene, leading to developmental delay, intellectual disability, behavioral abnormalities, and musculoskeletal problems. The condition affects only males and is characterized by Marfanoid traits and cognitive impairment.
A new UCL-led study found that some genes predicting high cholesterol don't apply to people from Uganda as they do in European populations. The researchers investigated genetic variants affecting blood fat levels and found that only 10% of markers were implicated in cardiovascular risk factors among Ugandan participants.
The American Society of Human Genetics affirms the importance of shared genetic data in medical advancement. The Society's core principles prioritize individual confidentiality, robust protection measures, and balanced assessment of risks and benefits for participants and society.
A study of 1,075 patients under 50 found that healthy behaviors such as regular exercise, quitting smoking, and managing cholesterol levels can significantly reduce the risk of premature heart disease. In contrast, genetics played a less significant role in those with multiple modifiable risk factors.
A gene in mice affects both bacterial populations and bile acid levels, revealing novel interactions between microbes and metabolites. The research integrates genetic mapping with metabolomic data, providing insights into the complex factors shaping microbial communities.
Researchers use machine learning to analyze mouse behavior while foraging for food, identifying 71 reproduceable behavioral sequences as the underlying building blocks for more complex behavior patterns. The study reveals genetic influence over behavior and provides a new approach to understanding complex behaviors in humans.
A study of 18,424 Han Chinese adults found that regular jogging and other exercises like mountain climbing and yoga reduce BMI in individuals predisposed to obesity. These findings suggest that genetics are not destiny and that exercise can help mitigate genetic effects on obesity.