Search Results
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … detailed assessment. We will suggest an additional set of evaluations for some participants that we feel is appropriate …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and is currently an … human Carbamoyl Phosphate Synthetase I: mutation update, diagnostic and protein structure considerations. Hum Mutat …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics … including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics … including the interplay of genes, DNA variation and their interactions with environmental factors. … Talking …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research … needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, MGB investigators …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… … Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … have been paralleled by innovations in science education and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement …
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.
… SECURITY NUMBER (SSN) ON APPLICATION MATERIALS. DHHS and NIH are Equal Opportunity Employer and encourages … of the curriculum, including didactic sessions, clinical and laboratory rotations, and scholarly activities. … and consultations to enhance their understanding of genetic factors in various disease processes and empower them …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… about key fellowship dates. … Advances in research and their successful translation to improve health are deeply … to informing the integration of genetics and genomics in clinical settings, sound evidence-based public policies can … and on policy issues related to genetics research and non-clinical applications of genetics in society. Congressional …
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.
… The JHU/NIH Genetic Counseling Training Program prepares students for a … Genetic Counseling from the Department of Health, Behavior and Society, 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 …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in … and inflammatory bowel disease. CHS is also an ultrarare genetic disorder, with an unappreciated spectrum. While the …