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.

Toxic RNA drives progressive heart damage in myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is the most common cause of adult-onset muscular dystrophy, a genetic disorder that leads to muscle weakness and wasting, but also affects the brain, the gastrointestinal tract and the heart.

3 Apr 2026

Oral molecule prevents kidney stones and restores survival in mice

Scientists at the Buck Institute for Research on Aging have shown that an orally administered small molecule, N-propargylglycine (N-PPG), can completely prevent the formation of calcium oxalate kidney stones, protect against kidney failure, and fully restore normal survival in a mouse model of Primary Hyperoxaluria Type 2 (PH2), a rare and currently untreatable genetic disorder that causes progressive kidney failure in infants and young adults.

2 Apr 2026

Researchers develop low-cost scalable sensors to study genetic brain disorders

Researchers have demonstrated a new class of low-cost, scalable sensors that can be used to monitor electrical activity in human cerebral organoids.

2 Apr 2026

Trial shows mavacamten benefits adolescents with obstructive heart condition

Adolescent patients with obstructive hypertrophic cardiomyopathy (HCM) who received the drug mavacamten saw a significant improvement in left ventricular outflow tract (LVOT) gradient, a measure of blood flow obstruction in the heart, compared with those who received a placebo, according to a small study presented at the American College of Cardiology's Annual Scientific Session (ACC.26).

29 Mar 2026

New method uses biomarkers to determine a person's biological age

Aging is a highly individual process. An international consortium coordinated by researchers in Konstanz has developed a method that uses biomarkers to determine a person's biological age - a valuable tool for research on ageing and the development of new approaches in preventive medicine.

19 Mar 2026

Polygenic analysis provides new insight into hypermobile Ehlers–Danlos syndrome

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders.

10 Feb 2026

Study elucidates key steps in the ubiquitin tagging of mutated huntingtin protein

Researchers have elucidated key steps in the ubiquitin tagging of the mutated huntingtin protein, providing hope for future therapies.

5 Feb 2026

Updated newborn screening guidelines aim to improve cystic fibrosis detection

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control and Prevention (CDC), highlights the new national guidelines on CF newborn screening that aim to detect affected babies earlier, more accurately and more fairly.

1 Feb 2026

DNA repair enzyme failure triggers inflammation and accelerates aging in cells

If severe DNA damage is not repaired, the consequences for the health of cells and tissues are dramatic.

30 Jan 2026

Zebrafish can play a decisive role in clinical interpretation of spinal muscular atrophy

The tiny zebrafish is helping researchers rapidly determine whether a newborn's genetic mutation is likely to cause spinal muscular atrophy (SMA), one of the leading causes of infant mortality worldwide.

28 Jan 2026

Repurposed Alzheimer’s medication offers low-cost hope for sickle cell anemia

Sickle cell anemia is the world's most common genetic disorder. It causes the red blood pigment hemoglobin to crystallize, which results in rigid, malformed red blood cells with a sickle shape.

15 Jan 2026

RAS-MAPK inhibition halts spinal deformity in neurofibromatosis type 1 mouse model

Spinal deformities such as scoliosis and kyphosis are among the most serious complications of neurofibromatosis type 1 (NF1), a genetic disorder that affects about one in 3,000 people.

14 Jan 2026

Siblings of people with Prader-Willi syndrome face hidden emotional burdens

New research from the University of East Anglia (UK) reveals the hidden struggles experienced by the brothers and sisters of people with Prader-Willi syndrome.

6 Jan 2026

Scientists unravel how citrin deficiency can trigger fat buildup in the liver even in lean individuals

Scientists at City of Hope, one of the largest and most advanced cancer research and treatment organizations in the U.S. and a leading research center for diabetes and other life-threatening illnesses, have unraveled how citrin deficiency (CD), a rare genetic disorder that prevents the liver from converting food into energy efficiently, can trigger fat buildup in the liver - even in lean individuals.

18 Dec 2025

UC Irvine receives funding for clinical trial of neural stem cell therapy for Huntington's disease

Leslie M. Thompson, Donald Bren Professor of psychiatry and human behavior as well as neurobiology and behavior at the University of California, Irvine, has received an $11,999,933 grant from the California Institute for Regenerative Medicine for an unprecedented clinical trial of a novel neural stem cell therapy for Huntington's disease.

12 Dec 2025

Study offers a unified biological model to explain the causes of autism

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum disorder (ASD).

10 Dec 2025

New Lancet series blends social science with medicine to tackle global health inequities

Can doctors in California learn from a patient who was bounced from one specialist to another in Japan? Can clinicians in London take lessons from a patient seeking asylum while suffering a medical emergency at the U.S.-Mexico border? Can doctors treating refugees in Africa inform health policy around the world?

5 Dec 2025