Katherine M. Dempsey, a genetic counseling student at the University of Texas, has won the 2016 Richard King Trainee Award for her groundbreaking research on mismatch repair deficient tumors and Lynch Syndrome. Her work explores the inherent heterogeneity in families with apparent predisposition to colon cancer.
Dr. Prasit Phowthongkum is the recipient of the 2016 Horizon Pharma/ACMG Foundation Award, which provides $40,000 per year to support his one-year fellowship training in clinical genetics. The award aims to advance education, research, and standards of practice in medical genetics.
The Sanofi Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics supports training programs advancing education, research, and standards of practice in medical genetics. The award grants $75,000/year to two recipients' institutions for clinical and research experience.
Jessica Tenney, MD, wins the 2016 ACMG Foundation/PerkinElmer Diagnostics travel award for her poster presentation on acrofacial dysotosis. The award recognizes her scientific merit and supports the development of medical genetic researchers.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award supports training in biochemical genetics, lysosomal storage diseases, and therapeutics. The award grants $75,000 per year to two recipients selected by the ACMG Foundation.
Dr. Bianca Russell has been awarded the David L. Rimoin Inspiring Excellence Award for her groundbreaking research on a novel skeletal dysplasia caused by homozygous mutations in BMPR1A. This achievement recognizes her dedication to advancing medical genetics and genomics.
The Genetics Society of America is announcing its inaugural class of PALM Network Spring 2016 Fellows. These fellows are working with mentors to develop and implement evidence-based active learning strategies in their classrooms, aiming to catalyze enduring change in teaching culture at their institutions.
A recent study by the University of Edinburgh found that couples' shared lifestyle habits, including diet and exercise, have a greater influence on obesity risk than their individual upbringings. By middle age, these shared choices can significantly impact weight management and reduce obesity risk.
The Atlas io system uses DNA probes with bespoke electrochemical tags to detect infectious diseases in less than 30 minutes. This technology has significant benefits over existing diagnostic tests, allowing for faster results and potentially reducing the spread of sexually transmitted infections.
Cadavers are being used to advance genetics education in medical schools, providing real-world scenarios and insights into genetic variants. This approach connects anatomy to genomics, bridging the gap between clinical application and future clinicians' training.
Detlef Weigel has made significant contributions to the field of genetics, including the identification of florigen and development of genomic tools. He is recognized for his tireless service to the community and his ability to excel science.
Susan E. Celniker has made significant contributions to the field of genetics, including sequencing and annotation of the Drosophila genome. Her work has enabled proteomic studies and developed computational tools for genetics researchers.
Researchers at UT Southwestern Medical Center have identified a new drug, Neoseptin-3, that activates the innate immune system in a novel way. The study found that Neoseptin-3 induces an immune response similar to that caused by LPS, but with a milder effect.
Bill Wood has been awarded the Elizabeth W. Jones Award for Excellence in Education for his sustained impact on genetics education, including innovative pedagogical approaches and high-quality undergraduate science education. The award recognizes his leadership in developing evidence-based reflective teaching and active learning.
Nancy Kleckner has made significant contributions to understanding chromosomes and mechanisms of inheritance. Her work has transformed methodology, combining traditional genetic approaches with molecular biology and microscopy.
The McDonnell Genome Institute will receive $60 million from the National Institutes of Health to study the genetics of common diseases. The research aims to uncover how differences in DNA contribute to disease risk, with potential benefits for improved diagnosis and treatment options.
Leonard I. Zon, MD, has made outstanding contributions to the field of cancer genetics with his work on stem cell biology and zebrafish research. His discoveries have led to the development of novel therapeutics for leukemia and melanoma, which are now being evaluated in clinical trials.
A new study identifies genetic influences on anxiety in chickens that may also apply to mice and humans. The research found that genes linked to anxiety in chickens were associated with similar behaviors in mice, while some were connected to schizophrenia or bipolar disorder in large human studies.
The PLOS Genetics Research Prize 2015 was awarded to Barroso-Batista et al. for their study on the adaptation of E. coli to the gut, which found that clonal interference dominates early stages of adaptation. The research used mice as hosts and demonstrated high reproducibility in populations evolving in different mice.
Researchers discovered human brains exhibit greater plasticity and adaptability than chimpanzee brains. Human brain organization is less influenced by genetics compared to chimpanzees, suggesting a strong role for environmental factors in shaping the human cerebral structure.
Researchers have discovered a new genetic cause of childhood kidney cancer, Wilms tumour, linked to mutations in the REST gene. The study found that REST mutations occur in about 10% of familial cases and can be detected through simple blood tests, providing valuable information for families affected by the disease.
A recent University of Virginia-led study found that naked mole-rats are not genetically isolated and are actually part of larger wild populations with diverse genetics. This challenges the long-held assumption about their social behavior and mating habits.
Rutgers Genetics Research Center has been awarded a five-year grant to provide comprehensive stem-cell related services, including iPSC derivation and quality control. The new grant will enhance access to high-quality stem cells for researchers investigating Parkinson's, ALS, and Huntington's diseases.
A study found that nearly three quarters of doctors surveyed wouldn't refer children with multiple developmental delays to a genetics specialist. This may delay diagnosis and treatment of genetic disorders, which can be treated earlier.
Research reveals that human activities, particularly deforestation and fires, are driving genetic differentiation among the Udzungwa red colobus monkey in Tanzania. The study's findings suggest that these changes are threatening the species' survival, as smaller populations become isolated and more susceptible to extinction.
A study of commercially insured women found that most did not receive genetic counseling after BRCA testing, with lack of clinician recommendation being the main reason. Women who received counseling had greater knowledge and satisfaction with their test results.
The Hastings Center special report explores controversies in genetics of intelligence research, recommending ways to avoid classicism and racism. The report concludes that gene variants influencing intelligence involve complex interactions between genes and environment, making it difficult to identify specific genetic variants.
A genetic study by University of Queensland researchers found a strong correlation between genes that result in greater height and those that reduce body mass index. The study, published in Nature Genetics, suggests that genetic variation may play a role in creating national differences in disorders such as dementia and heart disease.
The Genetics Society of America (GSA) is supporting workshops organized by students and postdocs to broaden interest in genetics. These trainee-organized symposia aim to advance knowledge, encourage exchange, and further the GSA mission.
Two Stanford University researchers, Maria Barna and Carolyn McBride, received the award for their pioneering work on ribosome processing and mosquito behavior. The Rosalind Franklin Young Investigator Award recognizes outstanding contributions to genetics research in human and non-mammalian systems.
The Genetics Society of America is a founding member of the Plant Science Research Network, which aims to unite the plant science community and promote collaborative research. The network will support new collaborations, foster data exchange standards, and prepare graduate students for diverse careers.
A five-year, $9.97M grant will establish a new Center for Precision Genomics at JAX, leveraging the lab's expertise in mammalian genetics and disease modeling to develop precision models of disease. The Center will accelerate translation to medical benefit through global collaborations and shared resources.
A special journal issue highlights real-world applications of conservation genetics in Latin America, from combating wildlife smuggling to exposing consumer fraud. Researchers used genetic techniques to characterize jaguar populations and identify piracatinga fish as a substitute for river dolphins.
The American College of Medical Genetics and Genomics has released a new 'Scope of Practice' document to clarify the changing role of medical genetics specialists. The document defines the specialty's scope, including genetic consultations, counseling, testing, and education.
Charles R. Scriver is receiving the Victor A. McKusick Leadership Award from ASHG for his work in human genetics, particularly in discovering and addressing inherited metabolic diseases. He has also made significant contributions to public health through pediatric genetic screening programs and education.
The Next Generation Science Standards (NGSS) show a modest improvement over state standards in genetics content, but fall short on key concepts like Mendelian inheritance. The study highlights the importance of interpreting standards consistently to ensure consistent implementation.
The Genetics Society of America has awarded prizes to undergraduate and graduate students who presented research on Caenorhabditis elegans at the recent meeting. The awards recognized innovative work in various fields, including cell biology, development and evolution, gene regulation and genomics, neurobiology, and physiology.
The RV144 HIV vaccine trial found that host genetics influenced the immune response, with specific HLA alleles modulating antibody responses. This discovery could inform the development of more effective next-generation vaccines.
Researchers found that schizophrenia patients have a higher-than-normal share of rare genetic mutations, highlighting the complex genetic architecture of the disorder. The study supports the hypothesis that schizophrenia may originate during early brain development.
The American Society of Human Genetics has issued a position statement on the ethical, legal, and psychosocial implications of genetic testing in children and adolescents. The statement addresses various issues related to genetic testing, including predictive testing, whole-genome sequencing, and implementation challenges.
Leonid Kruglyak, a renowned geneticist, received the 2015 Curt Stern Award for his pioneering work on understanding gene interactions and genome-wide association studies. His laboratory has developed powerful model organisms for studying complex genetic variation.
The American Society of Human Genetics has honored Dr. R. Rodney Howell with the first-ever Advocacy Award for his dedication to leveraging biomedical advances to improve public health. He received the award at ASHG's 65th Annual Meeting in Baltimore.
Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard are the recipients of ASHG's Award for Excellence in Human Genetics Education. They have made significant contributions to genetics education through their work on textbooks and educational programs.
Kay E. Davies has made significant contributions to understanding Duchenne Muscular Dystrophy, a genetic disorder that causes rapid muscle weakness. Her research has led to the development of dystrophin minigenes and utrophin-based treatments, offering hope for all DMD patients.
A gene previously suspected of influencing human obesity has been cleared of its connection, according to a new study. The researchers developed tools to analyze complex genomic regions, including the AMY1 locus, and found no association with body mass index.
Research by Thomas Werner and colleagues sheds light on pesticide resistance in Asian fruit flies and links it to cancer-causing genes, providing new insights into human health.
The Genetics Society of America has awarded the DeLill Nasser Award to ten early-career scientists, providing travel grants to attend conferences that enhance their career. The award recognizes excellence in genetics research and supports the professional development of recipients.
A new population genetics model reveals a previously unknown bottleneck in the Finnish population between 10,000 to 20,000 years ago. This event likely reduced the population size significantly and resulted in fewer genetic differences among its offspring.
The Genetics Society of America has awarded travel grants to 15 undergraduate students to present their research findings at the 20th International C. elegans Meeting. Recipients include students from institutions such as Pennsylvania State University, Washington State University, and Rutgers University.
The Genetics Society of America presented 14 early career researchers with GSA poster awards for their outstanding contributions to fungal genetics. The winners, including graduate students and postdoctoral scientists, showcased innovative research in various fields.
The Genetics Society of America awarded nine young researchers for their innovative work on fruit fly models, shedding light on human genetics diseases. The winners showcased promising contributions to the field, including studies on gene expression and chromatin state in Drosophila development.
A new study published in the Genetics journal estimated that humans carry an average of one to two recessive disease mutations, which can cause severe genetic disorders or prenatal death. The study used a unique community's detailed family histories and genealogical records to estimate the number of mutations per person.
The ACMG Foundation presents the first recipient of the David L. Rimoin Inspiring Excellence Award to Dr. Marcus Miller for his platform presentation on Metabolomic Analysis Uncovers Significant Trimethylamine N-oxide Production. The award supports research in metabolomics and human genetic disorders.
The ACMG Foundation has announced the inaugural recipient of the Carolyn Mills Lovell Award, presented to Stephanie Harris CGC for her poster presentation on hypertrophic cardiomyopathy research. The award aims to recognize genetic counselors' contributions to clinical genetics and includes a $1000 cash prize.
Dr. Mindy H. Li, MD, received the 2015 ACMG Foundation/PerkinElmer diagnostics Travel Award for her groundbreaking research on phenotypes and electronic health record systems in pediatric individuals with intellectual disability. The award recognizes her scientific merit and supports medical genetic researchers.
Amy Kritzer and Ronit Marom received the Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics to advance education, research, and standards of practice in medical genetics. The $75,000 award provides clinical and research training at premier medical centers.
The American Society of Human Genetics and the European Society of Human Genetics issued a joint position statement on non-invasive prenatal testing (NIPT), exploring its promise and drawbacks. NIPT has improved accuracy and safety in prenatal screening, but raises concerns about over-expansion and loss of ultrasound data.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award provides clinical research training in biochemical genetics, including lysosomal storage diseases and therapeutics. The award grants $75,000 per year to three recipients selected by the ACMG Foundation.
Patricia Hall, Ph.D., of Emory University received the 2015 Richard King Trainee Award for her high-quality research on newborn screening published in Genetics in Medicine. The award recognizes outstanding contributions to the field of medical genetics and genomics.
Researchers found a conclusive link between genetic variants and increased bleeding risk with warfarin treatment. Patients with specific genetic differences benefit from alternative anticoagulants like edoxaban, offering improved safety and efficacy.