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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… focus on identifying genetic contributions to human disease. … Genomics is, fundamentally, a data science. … genome and uncover genomic associations with health and disease. Members of the center perform research at the … computational models may learn to better predict disease risk and pharmacological effects directly from genomic code. …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.
… of human biology and developing new methods for treating disease. … NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease. … Research at NHGRI …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders … energy. Infection in individuals with mitochondrial disease can lead to worsening clinical symptoms, particularly … symptoms.  “Understanding why people with mitochondrial disease decline during infection is the first critical step …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker. The genome is a … that form the blueprint for every characteristic - and disease - that define a person. But for health care … teach practical skills for applying computational tools to disease-gene discovery, patient genome interpretation and big …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human Genome … , co-author and staff scientist also in NHGRI's Genetic Disease Research Branch. Read the Study Loci associated with … variation in some African populations, furthering skin disease and cancer research in all populations. … Skin color …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… genes to understand their role in normal development and disease processes by applying cutting-edge molecular biology … the genetic regulation of normal development and disease pathophysiology. Zebrafish as a vertebrate model … human diseases. Therefore, when a candidate gene for a disease or biological process is identified through the …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's … Ellen Sidransky never thought she would study Parkinson's disease because it is not a disease a pediatrician … Gaucher gene is now known to be the most common genetic risk factor for Parkinson's disease. "It exonerated why you …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders … energy. Infection in individuals with mitochondrial disease can lead to worsening clinical symptoms, particularly … consultations. Possible risks include: Pain, bruising, or risk of infection as a result of the blood draw or skin …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … The Center … to identify novel clinical and genetic insights into disease. CPHR research efforts focus on the clinical … and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic …