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Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in Paraguay? … genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. We’re trying to …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… called pyrin. In healthy people, pyrin plays a role in the inflammatory response of the body. Pyrin is activated when … a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. "The mutant pyrin may … In doing so, the pathogen suppresses the body's inflammatory response to the infection. This way, the body …
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.
… investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Lindsey Criswell, … investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Staff …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… chromosomal condition related to chromosome 21. … Genetic Disorders …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… used genetic and genomic approaches to understand human inflammatory diseases and to advance the molecular diagnosis … concept of autoinflammatory disease to denote a group of disorders mediated by cells of the innate immune system. Dr. … activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory disease …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural … single changes in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are … disease using Illumina's Immunochip. ​ … Behcet's disease, inflammatory disease, Dan Kastner M.D. Ph.D., Illumina's …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of … into improved diagnoses and therapeutics for human disorders. … Overview … Branch Staff … Translational and … the genetic, epigenetic and metagenomic basis of human disorders. ​ … The Translational and Functional Genomics …