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Jobs at NHGRI
NHGRI is seeking applications for the Director of Genetics Education (DGE) position for the Medical Genetics Training Programs, which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… and consultations to enhance their understanding of genetic factors in various disease processes and empower them to confidently manage patients with potential genetic involvement. For a PhD Beyond expert diagnosis and … services to other medical teams on the results of genetic tests. The DGE will engage with labs within NHGRI as …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… team uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish … phenotypic spectra and the natural history of known genetic conditions. Their focus is on early-onset muscle … F. Muntoni, C.G. Bönnemann. Clinical, histological and genetic characterization of reducing body myopathy caused by …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
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.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … and in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous … vessels in the brain. … ADPKD is usually an adult-onset condition. This means that many people with ADPKD live for …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… and the NIH Clinical Center. … A longstanding medical condition that eludes diagnosis by a referring physician can … UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights … 19, 2019: Undiagnosed disease program finds novel genetic variant UAB News 2018 September 24, 2018: The NIH …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … health problems. Type I OI is the mildest form of the condition. People who have type I OI have bone fractures …