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Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… are diagnosed with progeria within the first two years of birth, and virtually all of these children develop health … a dozen mice with the progeria-causing mutation soon after birth. The gene editor successfully restored the normal DNA …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… or 3) brain injuries occuring before, during or after birth. … Brain images of children with ADHD may show …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… iHMP was limited to three disease conditions: preterm birth, onset of inflammatory bowel disease, and onset of type … NIH-Funded Study Links Microbiome Composition to Preterm Birth Risk Among African-American Women Notable …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… acidemia, maple syrup urine disease Fatty acid oxidation defects Medium chain acyl-CoA dehydrogenase deficiency, …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… in 6,000 children. Because the disease results in multiple defects throughout the body, including cleft palate, heart defects, a characteristic facial appearance and learning …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a functional …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… language spoken, nationality, geographic origin, sex at birth, gender identity, disability status and age. Each … or intersex when referring to biological sex assigned at birth. 1 When referring to age, we use numerical values like … into different races.  The third study uses the birth certificates of participants and their parents to …