Search Results
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a … newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … Each clinical site will contribute local medical expertise to the …
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. … 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. …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards just announced by the National … The awards are part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is …
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 …
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. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the …
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 development. MGB investigators focus on human … vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, MGB investigators …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo … at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship … at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both …