Scientists studying a new cancer treatment discovered that protein levels, not genetics, determine the effectiveness of the medication. This finding offers an alternative explanation to the cancer stem-cell hypothesis and holds promise for designing more effective anti-cancer treatments.
Research published in Genetics reveals genetic priming in females, making them more likely to choose certain males over others, influencing mating outcomes and future reproductive behaviors. The study's findings suggest that genetic compatibility is key to understanding love at first sight.
Dr. Jonathan Berg received the inaugural Richard King Trainee Award for his publication on microduplications in the 22q11.2 region. The award recognizes the utility of array CGH technology in identifying genomic imbalances and its impact on defining molecular etiology and clinical phenotypes.
Dr. Kathy M. Chun, Director of Cytogenetics and Molecular Genetics at North York General Hospital, is the recipient of the 2009 Signature Genomic Laboratories Travel Award. The award recognizes outstanding young researchers in medical genetics and covers travel costs to the ACMG meeting.
Dr. Sihoun Hahn received the 2009-2010 Luminex/ACMGF Award to promote safe and effective genetic testing and services. The award supports research guidelines and recognizes medical geneticists' role in translating genetic research into medical services.
Dr. Margarita Saenz, a Medical Genetics Fellow, has been awarded the Genzyme/American College of Medical Genetics Foundation Clinical Genetics Fellowship in Biochemical Genetics. This fellowship supports clinicians in biochemical genetics and diagnosis of metabolic diseases.
Arno G. Motulsky, a pioneer in medical genetics, was awarded the inaugural ACMG Foundation Lifetime Achievement Award for his outstanding leadership and contributions to the field. The award recognizes his work as a founder of pharmacogenetics and his impact on training generations of geneticists.
Dr. Roberta A. Pagon, a renowned medical geneticist, has received the March of Dimes/Colonel Harland Sanders Award for her groundbreaking work in developing the public database genetests.org, which helps doctors analyze genetic tests for making informed medical decisions.
Researchers studying the genetics of exercise have identified about 200 genes that play a role in adapting to physical activity. These genes may hold the key to understanding muscle diseases such as muscular dystrophy, and could lead to new treatments for individuals with limited genetic ability to adapt.
A large international study identified nine genetic regions linked to increased risk of early-onset myocardial infarction. The study analyzed data from 26,000 individuals in 10 countries and found significant associations with common single-nucleotide polymorphisms (SNPs) in nine genetic regions.
A study published in PLoS Genetics found that genetic screening for diseases like cancer and heart disease may not accurately predict individual risk due to limited genetic variants associated with each condition. This limits the effectiveness of personalized genetic testing currently offered by companies.
Research published in the journal Genetics shows that fruit flies and humans regulate their circadian rhythms through similar cellular machinery. This discovery provides a viable animal model for circadian research and sheds light on the potential treatment of seasonal affective disorder, insomnia, and possibly some cancers.
Two studies examine over 600,000 genetic markers in ADHD patients, finding that multiple genes contribute to the disorder. The findings highlight the need for larger studies to fully understand the genetic mechanisms underlying ADHD and to develop more effective treatments.
Researchers have found that men outnumbered women in the ancient African exodus, tracing variations in X chromosomes and non-sex chromosomes to support their conclusion. The study's lead author notes that these findings align with anthropologists' teachings on hunter-gatherer populations.
Joseph H. Nadeau, Ph.D., was elected as an American Association for the Advancement of Science (AAAS) Fellow for his contributions to mouse genetics and mouse genome informatics and analysis. The award recognizes his sustained and significant efforts to advance science in these areas.
A study published in Human Molecular Genetics found an association between a functional variant of the serotonin receptor-type 3E gene and diarrhea-predominant irritable bowel syndrome. This correlation could lead to the development of specific medications for certain genetic mutations in patients.
The American College of Medical Genetics recommends offering genetic test for SMA to all couples, regardless of family history. The goal is to identify carriers and provide early testing options, while ensuring informed consent and access to reproductive resources.
A population cohort study found six novel genetic variants associated with lipid levels, a common indicator of heart or artery disease. The research team analyzed over 20,000 DNA samples from European countries, increasing the power of 'genetic microscopes' to identify lipid-gene links.
A nationwide study on the interactions of genes, environment and lifestyle has received widespread public support, with 84% of respondents in favor and 60% willing to participate. The study's findings suggest that factors such as individual research results and compensation play a significant role in increasing willingness to participate.
The American Society of Human Genetics honors Dr. Haig Kazazian with the 2008 Allan Award for his substantial scientific contributions to human genetics. The award recognizes his pioneering research on transposable elements and their role in causing mutations leading to human disease.
The American College of Medical Genetics has received a $13.5 million NIH contract to develop a National Newborn Screening Translational Research Network, aiming to enhance the understanding of rare genetic diseases through research and collaborative efforts.
The review discusses how mouse genetics research has contributed to a better understanding of human health and disease. Researchers predict that creating 'humanized' mice will provide new experimental systems for testing novel therapeutics.
Researchers from Massachusetts General Hospital linked genetics to brain reward circuitry and preference, revealing a connection between gene variants and brain activity. The study used brain imaging, genetics, and experimental psychology techniques to identify a correlation between the CREB1 gene variant and brain structure activity.
A study published in Nature Genetics has identified over 30 genetic regions associated with Crohn's disease, revealing surprising links between the condition and other common diseases like asthma. The research also highlights the complexity of the disease, suggesting hundreds of genes may be involved.
The study found that genetics accounted for around 35% of the differences in homosexual behavior among men, while non-shared environmental factors explained 64%. For women, genetic influences were more modest, accounting for 18%, with non-shared environment and shared family factors explaining 64% and 16% respectively.
Spradling's work on fruit fly genomics revolutionized developmental genetics and biology, advancing understanding of stem cells and their roles in human development and disease. His discoveries have led to new insights into digestive diseases, intestinal cancers, and infection strategies.
Allan Spradling receives the 2008 Gruber Genetics Prize for groundbreaking discoveries about stem cell development in Drosophila melanogaster. His work has significantly contributed to understanding human genetics, development, and disease.
Geneticist James P. Evans cautions against rushing into genetic testing, citing limited evidence of improved health outcomes and potential patient harm. Despite advances in genomics, Evans believes the technology has not yet been proven to yield meaningful information for individualized health advice.
The American College of Medical Genetics has established guidelines for direct-to-consumer genetic testing to ensure informed decision-making. The recommendations include involving a knowledgeable health professional, clear information about test results, and scientific evidence-based testing protocols.
A study of 3,546 female twins found that genetics influence the rate of progression to problem drinking and alcohol dependence. Environmental factors played a significant role in the initiation of alcohol use, while genetic factors accounted for up to 47% of the influence on women's alcohol-related problems.
A collaborative effort by Boston University researchers has discovered the TFAP2A gene is linked to Branchio-Oculo-Facial syndrome (BOFS), a disorder marked by clefting, skin anomalies, and eye abnormalities. The study's findings may lead to more precise diagnostic testing and suggest new research directions.
A £30 million follow-up study will analyze 120,000 DNA samples from people with 25 common diseases, including multiple sclerosis and asthma. The research aims to identify the genes underlying these conditions and develop new treatments.
Scientists have identified 20 new regions of the genome linked to human height, adding to the growing understanding of genetics and growth. These discoveries may shed light on diseases such as osteoarthritis and cancer, and could lead to new avenues for treating various conditions.
Emory University geneticist Madhuri R. Hegde was honored with the 2008 Signature Genomic Laboratories Travel Award for her scientific merit and selected presentation at the 2008 ACMG Annual Clinical Genetics Meeting. The award recognizes outstanding young researchers in medical genetics and covers travel costs to future meetings.
Peter J. McGuire, MB BCh, has been awarded the 2008-2009 Genzyme/ACMGF Clinical Genetics Fellowship in Biochemical Genetics at Mount Sinai Medical Center, New York. This fellowship supports a trainee's research and training in biochemical genetics.
The American College of Medical Genetics Foundation awarded David H. Ledbetter a $100,000 grant to promote safe and effective genetic testing and services. Ledbetter is a leading expert in molecular karyotyping and shared national databases for genetic data accumulation.
The latest advances in genetics and genomics hold great potential for improving prevention, diagnosis, and treatment of a wide range of diseases. Recent research has shed light on the genetic causes of conditions such as vitiligo, autoinflammatory diseases, and multiple sclerosis.
Dr. Peter H. Byers has received the March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in Genetics for his groundbreaking research on collagen gene mutations and their role in inherited disorders such as Ehlers-Danlos syndrome and osteogenesis imperfecta. His work has significantly advanced our understanding of these...
The Institute of Genetics and Molecular Medicine (IGMM) brings together researchers in human biology to develop non-toxic cancer treatments that could prevent tumours from spreading. The institute aims to learn lessons from each condition to inform others and develop personalized medical treatment.
Researchers have created a three-dimensional map of the yeast genome, enabling them to locate nucleosomes and predict their behavior. This breakthrough could lead to early detection of diseases like cancer by identifying genes that are actively being converted into proteins.
Researchers at the University of Manchester have identified a genetic variant on chromosome 6 associated with rheumatoid arthritis. The discovery may influence the behavior of a nearby gene, tumour necrosis factor associated protein (TNFAIP3), which is involved in inflammatory processes.
Maynard Olson receives $500,000 Gruber Genetics Prize for his groundbreaking work on genome mapping and its potential to revolutionize personalized genomics. The prize honors his contributions to breaking down the human genome into manageable pieces.
Researchers found two genetic SNPs influencing metabolic efficiency in Pima individuals, which helped them survive the Sonora desert's harsh environment. These findings suggest that similar SNPs may contribute to obesity globally.
The Simons Simplex Collection will be a core resource for researching sporadic genetic mutations in autism. Researchers will analyze DNA samples from 2,000 families with one autistic child to understand the underlying causes of autism.
The American College of Medical Genetics recommends using genetic testing to guide warfarin dosing and reduce the risk of bleeding complications. The review suggests that genetic variants in CYP2C9 or VKORC1 can be used to determine optimal dosing levels, but further research is needed to address clinical utility and balance between ha...
A team of Cornell researchers has identified a previously unknown gene in fruit flies that appears to have been created from scratch around 13 million years ago. The new gene, called hydra, is functional and likely plays a role in late-stage sperm cell development.
T. Andrew Burrow, MD of Cincinnati Children's Hospital Medical Center received the $75,000 grant to support training of clinicians in biochemical genetics. The award aims to recruit and train physicians in clinical biochemical genetics for metabolic diseases diagnosis and treatment.
The American College of Medical Genetics Foundation awarded Dr. Stuart Schwartz a $100,000 grant to develop a clinical practice model incorporating whole genome SNP array analysis. This project aims to promote safe and effective genetic testing and services.
The Genographic Project, launched in 2005, uses genetics to address anthropological questions globally. The project provides a periodically-updated database comprising all donated data and the Nearest Neighbor haplogroup prediction tool, allowing for accurate classification of mitochondrial lineages.
Researchers at University of Utah have developed a faster and less expensive technique for mutating vast, non-gene stretches of DNA. This new approach enables the evaluation of regulatory sequences that control gene expression, potentially leading to breakthroughs in human disease research.
University of Manchester researchers have identified evidence of several new genes behind rheumatoid arthritis (RA), a chronic inflammatory disease that affects nearly all joints. The study, part of the largest ever genetics study, has provided insights into what leads people to develop RA and offers new avenues for treatments.
A £9 million study of 17,000 people has identified over 10 genes that predispose to common diseases, including type 1 and type 2 diabetes, as well as Crohn's disease. The findings have significant implications for understanding the genetic basis of disease and developing personalized treatments.
A MUHC-led international team has identified the gene LCA5 as the cause of Leber Congenital Amaurosis, a condition affecting 200,000 worldwide. The discovery is part of efforts to fast-track a cure for this disease using gene therapy.
A genome-wide search has uncovered three novel regions of human DNA that contain clear genetic risk factors for type 2 diabetes, as well as a genomic region associated with elevated blood triglycerides. The study reveals surprising new avenues for disease research, treatment and prevention.
Researchers have discovered a new genetic locus associated with an increased risk of developing Crohn's disease, a chronic inflammatory disorder. The study, published in PLOS Genetics, found that a specific region on chromosome 5 is linked to the disease.
Research suggests that genetics, socioeconomic status, and neighborhood environment play a role in cancer incidence and mortality disparities among African-Americans, Hispanics, and Caucasians. A survey found that late-stage cancer diagnosis is more common among older, low-income individuals living in unsafe neighborhoods.
A new study published in Science has identified a single gene that may determine whether dogs are big or small, providing insights into the diversity of breeds. The research team used over 3,200 dog DNA samples to pinpoint this major gene, which is thought to have resulted in the appearance of smaller dogs in the population.
A recent NIDA study has identified genes associated with an individual's ability to quit smoking. The research, published in BMC Genetics, found 221 genes that distinguish successful quitters from those who struggled to stop smoking.
A study led by USC and Harvard researchers identified multiple genetic risk factors that predict a man's probability of developing prostate cancer. The findings highlight the importance of this region in prostate cancer, providing potential tools for early screening and prevention efforts.
A new study published in PLoS Genetics used computer simulations to trace genetic changes over thousands of generations in a simulated population, testing the effectiveness of statistical genetic methods in identifying multiple genes causing complex diseases. The researchers found that known methods are limited and identified which met...