Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Fruit Fly Model Provides Insights into Pathogenesis of New Genetic Disorder

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.

16 Oct 2023

Researchers Make Breakthrough in Fight Against Familial Hypercholesterolemia

The Mona Lisa, painted by the Italian artist Leonardo da Vinci, is one of the most recognizable paintings in the world.

21 Jul 2023

Whole Genome Sequencing More Effective Than Targeted Gene Sequencing in Detecting Genetic Disorders

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.

12 Jul 2023

STING-seq Discovers Causal Variants and Genetic Mechanisms for Blood Cell Traits

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.

5 May 2023

Novel Genetic Disorder Associated With Neurodevelopmental Differences Discovered

Researchers from Children's Hospital of Philadelphia and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences.

27 Apr 2023

Determining the structure of protein pumps using cryo-EM

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.

29 Mar 2023

Innovative new approach to constructing a nose in young patients with arhinia

Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified.

24 Mar 2023

New genetic condition that raises vulnerability to opportunistic infections

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.

24 Jan 2023

Using CRISPR technology to reduce the symptoms of Huntington’s disease

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.

From UC San Diego 14 Dec 2022

Treatment using CRISPR alleviates swelling attacks in hereditary angioedema patients

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.

11 Nov 2022

Adaptive optics imaging helps visualize the pathogenesis of choroideremia

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.

14 Sep 2022

Cellular therapy leads to meaningful functional improvements in DMD patients

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.

From The University of California, Davis 14 Mar 2022

A peptide could prove to be useful in stopping nerve cell degeneration

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.

17 Feb 2022

Genetic Disorder News and Research

Fruit Fly Model Provides Insights into Pathogenesis of New Genetic Disorder

Researchers Make Breakthrough in Fight Against Familial Hypercholesterolemia

Whole Genome Sequencing More Effective Than Targeted Gene Sequencing in Detecting Genetic Disorders

STING-seq Discovers Causal Variants and Genetic Mechanisms for Blood Cell Traits

Novel Genetic Disorder Associated With Neurodevelopmental Differences Discovered

Determining the structure of protein pumps using cryo-EM

Innovative new approach to constructing a nose in young patients with arhinia

New genetic condition that raises vulnerability to opportunistic infections

Using CRISPR technology to reduce the symptoms of Huntington’s disease

Treatment using CRISPR alleviates swelling attacks in hereditary angioedema patients

Adaptive optics imaging helps visualize the pathogenesis of choroideremia

Cellular therapy leads to meaningful functional improvements in DMD patients

A peptide could prove to be useful in stopping nerve cell degeneration

Researchers reverse Kleefstra syndrome after birth in a mouse model

Novel gene therapy offers hope to children with genetic, neurodegenerative diseases

Children with rare genetic disorder experience dramatic improvements in a gene therapy trial

Study shows how mitochondrial function impacts schizophrenia in patients with genetic disorder

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Nutritional supplement may reduce the risk of strokes caused by a rare genetic disorder

“Hidden genetic defects” can cause a variety of illnesses in children

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