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Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… with movement disorders, atypical neurodegeneration, and undiagnosed neurological disorders. … Since 2009, Dr. Toro has served as the primary neurologist for the NIH Undiagnosed Diseases Program (UDP) and has contributed to the success of …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute and … or stress. Otulipenia is one of several inflammatory diseases that occur when the immune system attacks the host's …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… and better understand pathways involved in human genetic diseases and normal development. Model systems, including … understanding genetic contributions to a number of human diseases, particularly those affecting the nervous, immune …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases that are disproportionately distributed by ethnicity … basis, pathophysiology and treatment of human inflammatory diseases. A referral clinic established at the NIH Clinical …
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.
… to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
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 …