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.

Customized CRISPR gene editing therapy successfully treats infant with rare disease

In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy by a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine.

15 May 2025

Woman with rare genetic disorder delivers healthy baby after complex pregnancy

When Jessica Johnson, 36, began to experience labored breathing and heart palpitations, she quickly made an appointment to see a cardiologist.

11 May 2025

NAD+ restoration improves mitochondrial function in Werner syndrome cells

A new research paper was published in Aging (Aging-US) on April 2, 2025, as the cover of Volume 17, Issue 4, titled "Decreased mitochondrial NAD+ in WRN deficient cells links to dysfunctional proliferation."

2 May 2025

Epigenetic flexibility helps embryos avoid developmental errors

An international research team led by Helmholtz Munich has, for the first time, provided a detailed insight into how the spatial organization of genetic material is established in the cell nucleus of early embryos within the first hours after fertilization.

23 Apr 2025

Owlstone Medical announces investment of up to $2.3 million USD from the Cystic Fibrosis Foundation to develop a breath test for Pseudomonas aeruginosa detection in cystic fibrosis patients

Owlstone Medical ("Owlstone"), the global leader in Breath Biopsy® for applications in early disease detection and precision medicine, today announced that the Cystic Fibrosis Foundation has made an up to USD $2.3 million equity investment (circa £1.7 million) in Owlstone to develop a breath test for Pseudomonas aeruginosa (PA) detection in patients with cystic fibrosis (CF).

22 Apr 2025

Monell study offers renewed hope for people living with Bardet-Biedl Syndrome

A Monell Chemical Senses Center study published this week in the Journal of Clinical Investigation offers renewed hope for individuals living with Bardet-Biedl Syndrome (BBS), a rare genetic disorder characterized by early-onset obesity, compulsive eating, and cognitive impairments.

18 Apr 2025

Breakthrough method creates functional liver organoids

While organoids aim to mimic human organs, the liver's repertoire of complex functions – and thus the energy it needs to operate – have made it challenging for researchers to grow organoids that proliferate and fully function, says Sato. When prioritizing growth and survival in laboratory settings, hepatocytes, the liver's main cells, eventually transformed into cells resembling cholangiocytes, which line the bile duct.

16 Apr 2025

Rutgers geneticists uncover fresh insights into progression of polycystic kidney disease

For patients with polycystic kidney disease (PKD), a common genetic disorder that ravages the waste-removing organ with cysts, dialysis and transplantation are among the only treatments.

3 Apr 2025

New cystic fibrosis newborn screening guidelines aim for equitable detection

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ethnic backgrounds.

3 Apr 2025

Owlstone Medical secures investment from Cystic Fibrosis Foundation

29 Mar 2025

Research links kidney dysfunction to muscle weakness in myotonic dystrophy type 1

Thurman M. Wheeler, MD, of the Department of Neurology at Massachusetts General Hospital, is the senior author of a paper published in Nature Communications, "Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1."

8 Mar 2025

Protein cluster discovery could lead to muscular dystrophy treatments

A new discovery about how tiny protein clusters form in cells could pave the way for treatments for Emery-Dreifuss muscular dystrophy (EDMD), a rare genetic disorder that causes muscle weakness and heart problems.

6 Mar 2025

New gene therapy strategy could cure COPA Syndrome

Scientists compared five families and multiple generations to find a gene variant that prevents COPA Syndrome and opens the door to a new gene therapy for the condition.

27 Feb 2025

Lurie Children's launches campaign to raise awareness of newborn screening

Ann & Robert H. Lurie Children's Hospital of Chicago launched a newborn screening awareness campaign, with signage on public transit and billboards across Chicago urging parents to contact their child's pediatrician immediately if results are out of normal range.

3 Feb 2025

Inherited gene mutation found to increase prostate cancer risk

A study of men with a family history of prostate cancer has discovered an inherited form of prostate cancer.

28 Jan 2025

Antihistamines offer new hope for erythropoietic protoporphyria-related liver disease

Chlorcyclizine shows promise in reducing protoporphyrin-IX accumulation and liver damage in erythropoietic protoporphyria, targeting histamine pathways.

20 Jan 2025

Unexpected discovery opens doors for improved siRNA therapies

In everyday life, when things turn out the opposite of what you expect, it's usually cause for frustration. In science, it's often the starting point for discovery.

20 Dec 2024

Novel drug holds promise for treating Duchenne muscular dystrophy

A novel drug holds promise for treating Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes severe muscle degeneration.

16 Dec 2024

Researchers discover key genetic mechanism behind craniofacial development

An international team of researchers has identified a key genetic mechanism that regulates the formation and migration of cranial neural crest cells, which are essential for developing facial structures.

14 Dec 2024

Study identifies potential risk factor for aortic aneurysms in Loeys-Dietz syndrome

Studying the cells of people and genetically engineered mice, Johns Hopkins Medicine scientists say they have uncovered a potential reason why patients with Loeys-Dietz syndrome, an inherited connective tissue disorder, are especially prone to developing aneurysms at the root of the aorta, the major artery that carries blood away from the heart and to the rest of the body.

9 Dec 2024