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.

Clinical trial reveals encouraging results for apitegromab in spinal muscular atrophy

A new clinical trial has revealed encouraging results for a muscle-targeting therapy aimed at improving motor function in children and adolescents with spinal muscular atrophy, according to a study published in The Lancet Neurology.

18 Sep 2025

Boosting PI31 to restore synaptic function and prevent neurodegeneration

One fundamental feature of neurodegenerative diseases is a breakdown in communication. Even before brain cells die, the delicate machinery that keeps neurons in touch-by clearing away protein waste at the synapses-starts to fail.

16 Sep 2025

Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth retardation, small head (microcephaly), developmental delays, cognitive impairments, excess hair growth, and limb anomalies.

29 Aug 2025

Inherited DNA changes can cause hormone imbalance in women with polycystic ovary syndrome

Increased testosterone levels are a consistent hormonal abnormality in women with polycystic ovary syndrome (PCOS). This study identified specific DNA variants in the gene DENND1A, which increase testosterone production in PCOS.

29 Aug 2025

Ciliary Hedgehog signaling controls the fate of fat precursor cells

Too much fat can be unhealthy: how fat cells, so-called adipocytes, develop, is crucial for the function of the fat tissue.

20 Aug 2025

Researchers find CFI deficiency alarmingly high in old order Amish

Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population.

13 Aug 2025

New RNA therapy reverses symptoms of progeria in mouse models

Children who develop deep wrinkles, stunted growth, and rapidly aging bones and blood vessels as early as 1 to 2 years of age may be suffering from Hutchinson-Gilford Progeria Syndrome (HGPS), a rare and incurable genetic disorder that affects approximately one in eight million people.

29 Jul 2025

Researchers map atomic structure of protein complex driving cilia movement

A team led by UT Southwestern Medical Center researchers has uncovered the atomic structure of a protein complex pivotal to the function of motile cilia, the hair-like structures extending from the surfaces of many cell types that generate their movement.

28 Jul 2025

NAD+ supplementation could be a potential treatment for accelerated aging diseases

Can research into a rare, accelerated aging disease and "zombie cells" teach us something about the normal aging process?

4 Jul 2025

Oral drug MA-5 can improve heart and muscle problems in Barth syndrome

Researchers at Tohoku University have discovered that an oral drug called MA-5 can improve both heart and muscle problems in Barth syndrome, a rare genetic disorder affecting 1 in 300,000 births worldwide with no current cure.

1 Jul 2025

Clinical trial examines whether Ambroxol can slow dementia in people with Parkinson's

Dementia poses a major health challenge with no safe, affordable treatments to slow its progression.

1 Jul 2025

PIEZO2 ion channel plays critical role in the formation of coronary vessels and the heart

The ion channel PIEZO2 doesn't just convey touch stimuli. It also plays a key role in the development of coronary vessels, a team led by Annette Hammes from the Max Delbrück Center reports in "Nature Cardiovascular Research."

27 Jun 2025

Unknown organelle discovery could open the door to new treatments for inherited diseases

The discovery of an unknown organelle inside our cells could open the door to new treatments for devastating inherited diseases.

26 Jun 2025

The price you pay for an Obamacare plan could surge next year

Josefina Muralles works a part-time overnight shift as a receptionist at a Miami Beach condominium so that during the day she can care for her three kids, her aging mother, and her brother, who is paralyzed.

17 Jun 2025

Gene therapy shows long-term success in hemophilia B patients

A gene transfer approach to treating the bleeding disorder hemophilia B remains safe and effective long-term, as scientists from St. Jude Children's Research Hospital and University College London today report thirteen years of follow-up data.

12 Jun 2025

Nicotinamide riboside shows promise in treating Werner syndrome symptoms

Werner syndrome (WS) is a rare genetic disorder that causes premature aging and serious complications. In the first clinical trial of its kind, researchers from Japan with the company Niagen Bioscience, investigated the effects of nicotinamide riboside (NR), a vitamin B3 derivative, in patients with WS.

5 Jun 2025

Understanding how base editing tools work at the molecular level

You may have seen it in the news recently: a baby in Pennsylvania with a rare genetic disorder was healed with a personalized treatment that repaired his specific genetic mutation.

4 Jun 2025

Rare cancer gene found in sperm donor sparks European regulatory concerns

A case in which a sperm donor was later found to be carrying a cancer-causing pathogenic variant in his gametes has highlighted the problems of regulating gamete donation at European and international level, the annual conference of the European Society of Human Genetics will hear today (Saturday).

23 May 2025

Discovery unravels two populations of gonadotrophs in the pituitary gland

Researchers at the Francis Crick Institute have shown that gonadotrophs, cells in the pituitary gland with a key role in puberty and reproduction, come from two different populations, with the majority produced after birth rather than in the embryo, as previously thought.

21 May 2025

Personalized gene editing corrects fatal infant metabolic disorder in world-first treatment

Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a rare and life-threatening inborn error of metabolism. This pioneering approach chemically corrects the underlying mutation without cutting DNA, showing promise for precision treatment of ultrarare genetic disorders.

20 May 2025