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News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … of ASHG, a professional membership organization for human genetics specialists worldwide. He will serve in his personal …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … in 2010 to speed the integration of genomics into clinical medicine, is funded by the National Human Genome …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion … and rotations in the areas of genetic counseling, human genetics, public health, public policy, research methodology, … Genetic Counseling, Genetic Testing, Clinical Genomics, Genomics In Medicine, Genomic Medicine, …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the branch is engaged in basic, translational and clinical research, bringing the latest genomic and genetic …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait variation into … those traits. Although the foundation of quantitative genetics was laid over a century ago, there continue to be … Webinar Series: Complex Trait Genetics Following on the heels of NHGRI’s workshop “Advances …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… of OI is made on the basis of family history and/or clinical presentation. Frequent fractures, short stature, a … and 95 percent, respectively, of individuals with the clinical diagnosis of OI. Normal biochemical and molecular … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … genetic information about an individual as part of their clinical care. This is in contrast to strategies to improve … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …