Search Results
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia, Inherited Blood Disorders, Hemoglobin, Anemia, Alpha Thalassemia, Beta … Genetic Disorders …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
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. … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders …
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. … genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. We’re trying to …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Genetic Disorders …
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.
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. … into improved diagnoses and therapeutics for human disorders. … the genetic, epigenetic and metagenomic basis of human disorders. ​ … the genetic, epigenetic and metagenomic basis of human disorders. …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, … chronic complex diseases such diabetes and cardiovascular disorders. Data generated in the CRGGH will continue to … Data generated from this cohort includes: multiple cardiometabolic phenotypes, genotypes from the Affymetrix …