Search Results
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features. These might … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… practices, and standards that can be generalized across diseases and populations. It will also generate a … diverse populations; 2) persons with and without specific diseases; 3) harmonized and standardized phenotypic and …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… other on a chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) …
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.
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… therapeutic strategies for both rare and common neurologic diseases. Over the past two decades the Sidransky group has … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into … clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Ellen Sidransky, clinical genetics, …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
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 … and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and … from discriminating against patients with genetic diseases by refusing coverage because of 'pre-existing …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …