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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… a full-time position as a pediatric neurologist at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy … disabilities, from common conditions like ADHD to rare diseases like GM1 and the variety of conditions seen in the … L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT , Lee PR, Pierson TM, Soldatos A, Toro C, …
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.
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… Our global collaborative network (“KwashNet”) currently includes researchers from … annually to develop guidelines, data collection tools, and network-wide standards as a group. Attendees at these … Democratic Republic of Congo … Kwashiorkor Collaborative Network … International investigation into outcomes of SAM in …
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 …
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
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.