Sekar Kathiresan receives the 2018 Curt Stern Award for his groundbreaking work identifying genetic factors underlying cardiovascular disease risk. His research has led to the development of medicines that mimic protective mutations, reducing heart attack risk.
The American Society of Human Genetics (ASHG) recognizes Dr. Andrew Adey's contributions to cancer development and progression research. His novel single-cell technologies are being used worldwide to understand epigenetics and disease models.
A special collection of papers published in PLOS Genetics explores the genetic basis of human facial formation, revealing advances in understanding facial development, birth defects, and normal facial variation. The research identifies numerous genes contributing to facial malformations and syndromes.
Researchers used whole exome sequencing and whole genome sequencing to detect genetic causes of neonatal death in unexplained cases. The study found a genetic cause in 23% of prospective cohort samples and strong candidates in 18% of retrospective cohort samples.
The MRC Human Genetics Unit at the University of Edinburgh has received £53 million in funding to study human genetics. The unit will investigate genetic variations and their impact on diseases, including those affecting childhood development and cancer.
A common genetics study method called Mendelian randomization has been found to be distorted by a phenomenon called horizontal pleiotropy in nearly 50% of its studies. This distortion can lead to false positive causal relationships and affects the accuracy of drug discovery and disease management.
Manolis Pasparakis, a professor at the University of Cologne, has received a 2.5 million euro ERC Advanced Grant to investigate the role of necroptosis in chronic inflammatory and autoimmune diseases. His research focuses on the mechanisms regulating inflammation.
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.
The Pfizer/ACMG Foundation has awarded Amanda Freed, M.D. and Kim Ng, M.D., a two-year fellowship to pursue clinical research training in biochemical genetics and genomics. The recipients will receive $75,000 per year for their residency training.
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.
The ACMG Foundation for Genetic and Genomic Medicine announced four recipients of the 2018 Shire/ACMG Foundation Next Generation Fellowship Awards. These awards provide funding for clinical genetics and genomics residency fellowships as well as medical biochemical genetics specialty fellowships, supporting training in medical genetics.
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.
Geneticist Andrew Feinberg highlights the importance of combining epigenetics and genetics research to understand the impact of environmental exposures on human health. He argues that epigenetics can provide valuable insights into gene expression and its relationship with disease.
A massive international study of 520,000 people has identified 22 previously unknown genetic contributors to stroke, shedding light on the complex biology of the disease. The findings suggest that stroke shares common genetic influences with other vascular conditions and may lead to personalized treatments.
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 study has identified 22 new genetic risk factors for stroke, providing extensive insight into the biology and pathways leading to the disease. The results demonstrate shared genetic influences with multiple related vascular conditions, including blood pressure and coronary artery disease.
A large international study has identified 22 new genetic risk factors for stroke, contributing to a better understanding of the disease's molecular mechanisms. The findings highlight the importance of genetics in identifying novel drug targets and may lead to personalized treatments for this complex disease.
A new study published in Translational Psychiatry found that genetic variations contribute to individual differences in empathy, with women generally showing higher levels of empathy than men. The research also linked genetic variants associated with lower empathy to a higher risk for autism.
A study using landscape genetics identified a decline in the endangered maple Acer miyabei's population due to habitat loss and fragmentation. The research highlights the importance of preserving forests along rivers and surrounding them to maintain gene flow, ensuring the long-term survival of this unique species.
Researchers identified genetic variants associated with blood vessel inflammation and metabolism that increase risk of severe dengue. These findings provide insights into the pathophysiology of the disease and may lead to new therapeutic approaches.
A large-scale study of genetics and smoking habits sheds new light on the complexities of controlling blood pressure, identifying potential genes of interest for new treatments. The research found surprising links between blood pressure and genes related to addiction, metabolic problems, and kidney disease.
The active genetics technology has been used to edit gene regulatory elements in fruit flies, revealing new fundamental mechanisms controlling gene activity. The researchers provided experimental validation for using active genetics as an efficient means for targeted gene insertion and single-step replacement of genetic control elements.
Danish researchers have developed a method to reduce methane emissions from cattle by 5% through genetic selection, equivalent to 90,000 tonnes of CO2 annually. This achievement has great prospects for climate-friendly bull semen exports and benefits cattle farmers.
UK schoolchildren's evolution acceptance is linked to their scientific aptitude, not psychological conflicts with belief systems. The study found that lower-aptitude students struggled to understand science concepts and responded poorly to teaching on both evolution and genetics.
A study published in the American Journal of Human Genetics reveals that earlobe attachment is influenced by an interplay of at least 49 genes. This complex genetics challenges traditional teaching methods, which often focus on dominant and recessive genes.
A recent study published in the journal Genetics found that genetic differences can greatly impact how individuals respond to different diets. The researchers used four groups of animal models with unique genetic traits to test the effectiveness of various diets, including American-style, Mediterranean, Japanese, and ketogenic diets.
A study by UNC Lineberger Comprehensive Cancer Center led to the development of a new approach for identifying therapeutic options for cancer patients based on their tumor's genetics. Cognitive computing was used to analyze large volumes of data and identify potentially relevant clinical trials or treatment options.
Researchers have identified enzymes that regulate the speed of protein cargo trucks on cellular highways, a discovery with implications for spinal cord and nerve injuries as well as neurodegenerative diseases. The study found that these enzymes, TTLL-11 and CCPP-1, work together to control traffic flow on microtubule highways.
A twin study found that genetics significantly affects how children look at their environment, influencing social, emotional, and cognitive development. The research suggests that genes influence the way individuals visually explore their environments at a micro-level, leading to shaped visual experiences.
A survey of genetics professionals found high support for research into somatic uses of gene editing, but more divided views on germline uses. Most geneticists felt it would be acceptable for therapeutic purposes in the future, differing from public opinions.
Researchers identified a new genetic syndrome caused by biallelic mutations in the FANCM gene, leading to early cancer formations and chemotherapy toxicity. Patients with this syndrome did not develop Fanconi anaemia, but had a higher risk of breast cancer and chromosomal fragility.
Researchers have identified a genetic link between host animals, their microbial community, and methane production in a study that won the PLOS Genetics Research Prize. The study found that certain microbial profiles can be used to recognize cattle that use feed more efficiently while emitting less methane.
A study published in mBio finds that household environment plays a major role in shaping the salivary microbiome, with similar bacteria found in individuals living together. The research team sequenced DNA and saliva from an extended Ashkenazi Jewish family to determine how environmental influences affect the microbiome.
A study found that specific genetic mutations and inherited genes may contribute to hemiplegic cerebral palsy. Mutations in certain parts of an individual's genetic makeup were identified, with some variations being inherited from parents.
A group of 11 organizations has issued a statement on germline genome editing in humans, recommending against human pregnancy-related editing and supporting publicly funded in vitro research. The statement outlines scientific and societal steps necessary before implementation of such clinical applications is considered.
Daniel MacArthur receives ASHG's first Early-Career Award for his work on rare disease diagnosis using large-scale genomic technologies. The award recognizes his development of key resources, including Exome Aggregation Consortium and Genome Aggregation Database.
John J. Mulvihill, MD, receives the ASHG Mentorship Award for his sustained pattern of exemplary mentorship at various academic ranks. He has founded successful genetics training programs and mentored trainees across fields and career stages.
Kári Stefánsson to receive William Allan Award for his pioneering work on Icelandic population genetics and its impact on public education about genetics. His research has led to important insights into various diseases, including type 2 diabetes, prostate cancer, and schizophrenia.
Researchers found that genetics play a significant role in shaping infants' social behavior, including how they look at and respond to facial expressions. The study also showed that this behavior is disrupted in children with autism, providing a new link between genetic causes and behavioral presentation.
The American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
Dian Donnai, a clinical geneticist and educator, received the ASHG's 2017 Education Award for her efforts in human genetics education. Her research focused on understanding developmental disorders in children, and she founded several international conferences and workshops to promote collaboration.
Edward R.B. McCabe, MD, PhD, received the ASHG 2017 Advocacy Award for his extensive efforts to integrate genetics into health systems and promote funding for biomedical research. He has worked on various initiatives, including Newborn Screening Saves Lives Reauthorization Act and Zika virus public education.
Douglas Wallace receives the award for his pioneering work in mitochondrial genetics, leading to insights into human genealogy and implications for treating metabolic and degenerative diseases. The recognition acknowledges the crucial role of mitochondrial DNA genetics and bioenergetics in common disease etiology.
A recent study led by the University of Arizona found that trust is significantly influenced by genetics, while distrust appears to be primarily socialized. The research suggests that trust and distrust are distinct qualities, with genetics playing a more significant role in shaping trust behaviors.
Studying pea genetics and environmental factors, researchers found that pea yield is affected by both genetics and environment, but environment has a larger impact. The study also identified pea varieties with higher protein and resistant starch content, which can benefit human health and the environment.
A large controlled trial found that teaching genetics first significantly improved students' test scores on evolution, especially for foundation classes. The study suggests that priming students with genetics information before teaching evolution can lead to better understanding of this complex concept.
The Gruber Foundation has awarded $1.5 million to three top scientists for their groundbreaking work in cosmology, genetics and neuroscience. Sandra Faber, Stephen Elledge, and Joshua Sanes have been recognized for their pioneering research on galaxy structure, DNA damage response pathway, and synapse formation.
The National Institute on Aging has renewed Penn Medicine's Alzheimer's disease genetics data repository, providing $7.7 million in funding over five years. The site gathers and organizes genetic data to aid researchers in understanding the disease's origins and potential prevention and cure strategies.
The Genetics/Genomics Competency Center (G2C2) has expanded its genomic resources for healthcare professionals. The website offers over 500 materials on genetics and genomics concepts for use in the classroom and clinic, including new resources on genomic technologies and genetic testing.
Dr. Douglas C. Wallace received the Benjamin Franklin Medal in Life Science for his groundbreaking research on mitochondrial genetics. His work defined the genetics of DNA within mitochondria and reconstructed patterns of human evolution.
Researchers have identified four damaged genes associated with Tourette syndrome, a neurological disorder characterized by vocal and physical tics. These findings suggest that multiple gene mutations contribute to the development of the disorder, offering new hope for personalized treatments.
A recent study found that genetics play a significant role in determining social media use, accounting for one-third to two-thirds of the variance. The research used twin study survey data and provided an analytical blueprint for studying genetic influence on communication behaviors.
Researchers found that genetics controlled which receptors were present in mice, but the environment also played a significant role in shaping the olfactory system. This combination of genetic and environmental factors gives each individual a unique sense of smell, even among genetically identical animals.
Researchers at King's College London used 3D scans to analyze face shapes of nearly 1,000 UK female twins. They found that the shapes of the end of the nose, cheekbones, and inner corner of the eye are highly influenced by genetics. The study published heritability maps, showing specific genes involved in shaping human faces.
Researchers grew stem cells from children with Pelizaeus-Merzbacher Disease to understand the genetic causes of common symptoms. The study identified defects in brain cell function linked to patient genetics, suggesting distinct subgroups requiring different clinical approaches.
A study published in Nature Genetics reveals that large regions of the human genome have built-in variability in reversible epigenetic modifications, which enables cancer cells to proliferate and adapt. This variation can make cancer cells more resistant to chemotherapy and treatment.
Researchers from Baylor College of Medicine discovered that OTUD6B gene mutations cause a spectrum of physical and intellectual deficits. The study found 12 individuals carrying mutations in OTUD6B with similar clinical characteristics, including severe intellectual disability and cardiovascular problems.
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.