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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… genetic and genomic strategies to understand inherited disorders of inflammation, often stimulated by patients with … Stimulated by a chance encounter with a patient with familial Mediterranean fever (FMF), Dr. Kastner established a … discovered that dominantly-inherited mutations in the p55 tumor necrosis factor receptor cause an inherited fever …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in Paraguay? … genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. We’re trying to …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has … NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked episodes of … studies that may be more beneficial to the patient. … Familial Mediterranean Fever (FMF) TNF Receptor Associated …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… chromosomal condition related to chromosome 21. … Genetic Disorders …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. Mol Genet Metab 2018 … Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech. 10(6):691-704, 2017. PMID: … E, Tayebi N. The role of epigenetics in lysosomal storage disorders: Unchartered territory. Mol Genet Metab 122:10-18, …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.