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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
Staff
Dr. Rene Sterling is a program director in NHGRI's Division of Genomics and Society.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. Dr. Sterling has over … … Rene Sterling, ELSI Research Program, eMERGE Genomic Risk Assessment and Management Network … Dr. Rene Sterling is …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus … … Biography … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey A. Criswell, M.D., M.P.H., … Disease Genomics Branch. … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research … the forefront of research innovation by using high-risk screens to identify major modifiers of primary genetic …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … the now widely accepted concept of autoinflammatory disease to denote a group of disorders mediated by cells of … IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory disease characterized by …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… he collaborates on several projects involving genetic risk communication. His main appointment is as associate … Dr. Klein's research interests include self-judgment, risk perception and risk communication. He has been interested in how risk …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Although a role for genetics in the development of the disease has been supported, it is unclear whether this genetic risk mirrors that observed in adults (multiple genes all with … metabolic disturbances of kwashiorkor.   Sickle Cell Disease Alloimmunization  Sickle cell disease (SCD) is one …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that provides … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant applications … …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient …  … For almost 30 years the focus of the Inflammatory Disease Section (IDS) has been the identification of genes … LA, Seldin MF, Kastner DL, Gregersen PK. STAT4 and the risk of rheumatoid arthritis and systemic lupus …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… focuses on understanding the genetic factors that increase risk for various complex diseases and their interactions with environmental risk factors. Dr. Bailey-Wilson specializes in statistical … NIH. She was appointed co-branch chief of the Inherited Disease Research Branch in 2006 and became co-chief of the …