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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 …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
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 … present at birth that fight infections). An international network of scientists studying inflammatory diseases …
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. … disease. CMG scientists will build on an international network of research collaborations and sequence the genomes …
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 …
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 …
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 …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… of human cellular responses, the Library of Integrated Network-based Cellular Signatures (LINCS). Discovering such … and aid in the development of new therapies for many diseases. … The funding establishes six centers, collectively … light on the interrelationships of proteins in complex diseases, which is an important step in developing a rational …