A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Research conducted in the laboratory of Dr Hugo J. Bellen, a Distinguished Service Professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has identified a novel disorder linked to gain-of-function variants in the DOT1L gene.
The Mona Lisa, painted by the Italian artist Leonardo da Vinci, is one of the most recognizable paintings in the world.
A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.
A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the 98% of the genome that does not encode proteins.
Researchers from Children's Hospital of Philadelphia and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences.
A rare, genetic disorder known as Hailey-Hailey disease causes patches of blisters to develop mainly in the folds of skin under the breasts, in the groin, and the armpits.
Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified.
An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.
A neurological condition called Huntington's disease (HD) results in a progressive decline in movement, coordination, and mental ability. It is brought on by a mutation in the huntingtin, or HTT, gene.
Hereditary angioedema (HAE) is a rare, genetic disorder characterized by severe, recurring, and unpredictable swelling attacks in various organs and tissues of the body, which can be painful, debilitating, and life-threatening.
Researchers at the National Eye Institute (NEI) have demonstrated for the first time how cells across various tissue layers in the eye are impacted in individuals with choroideremia, a rare genetic disorder that causes blindness.
A clinical trial at UC Davis Health and six other sites showed that a cellular therapy offers promise for patients with late-stage Duchenne muscular dystrophy (DMD), a rare genetic disorder causing muscle loss and physical impairments in young people.
Researchers at the University of Illinois Chicago found promising results in their search for a treatment to stop nerve cell degeneration that happens in some types of disorders, such as hereditary spastic paraplegia and Parkinson's disease, which can cause significant disability.
Scientists announced the reversal of Kleefstra syndrome—a genetic disorder leading to intellectual disability.
Newly devised gene therapy can help children born with AADC, a rare genetic disorder that causes developmental and physical disabilities.
Children with a devastating genetic disorder characterized by severe motor disability and developmental delay have experienced sometimes dramatic improvements in a gene therapy trial launched at UCSF Benioff Children's Hospitals.
Researchers have demonstrated how cell “batteries” play a significant role in whether patients with the chromosomal deletion syndrome acquire schizophrenia.
Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.
Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.
For the first time, scientists have gained a better understanding of the “hidden genetic defects” of the general population in Europe.