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.

New Gene Editing Tool Shows Promise for Treating Diseases

Bacterial and archaeal CRISPR-Cas systems, comprising protein and RNA components, were initially developed as a natural defense mechanism against invading viruses.

24 Sep 2024

Lipids Found to Play Key Role in Cancer Immune Evasion

Cancer cells seldom start off stealthy. Quite to the contrary, they announce their presence to the immune system by planting chemical red flags right on their membranes.

18 Sep 2024

New Gene Therapy Approach Improves Muscle Strength in DMD Mice

Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people with Duchenne muscular dystrophy (DMD).

29 Jul 2024

NanoRanger Offers Rapid, Precise Diagnosis for Genetic Diseases

An effective long-read sequencing method that looks for intricate genomic variations can quickly and accurately diagnose genetic disorders molecularly.

24 Jul 2024

New Gene Editing Technique Outperforms Existing Therapies

Cystic fibrosis, a prevalent genetic disorder, leads to thick mucus accumulation in the lungs and other parts of the body, resulting in breathing difficulties and infections.

11 Jul 2024

CSHL Researchers Reveal New Protein Networks in RNA Splicing Regulation

Bodybuilders and cellular mechanisms agree generating protein is a heavy lift. To complete the task, cells rely on complexes called spliceosomes.

11 Jun 2024

Study Highlights Key Protein-Lipid Interactions in Mitochondrial Energy Production

By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how our cells produce energy.

10 Jun 2024

LambdaVision Aims to Refine Process for In-Space Manufacturing of Artificial Retinas Through ISS National Lab-Sponsored Investigation

Approximately 1.5 million people worldwide are affected by retinitis pigmentosa, a rare genetic disorder that causes vision loss.

24 Jan 2024

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