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.

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

A team of Massachusetts General Hospital Cancer Center researchers has determined one way that mutations in a gene involved in a rare, hereditary cancer syndrome lead to out-of-control cellular proliferation.

29 Aug 2018

Tufts researchers win grant to study integration of genomic sequencing into neonatal care

Tufts Medical Center researchers have received a five-year grant award for more than $8 million from the National Center For Advancing Translational Sciences of the National Institutes of Health to study the integration of targeted genomic sequencing into neonatal diagnosis and care.

16 Aug 2018

Study reveals role of RUNX proteins in DNA repair

A study by researchers from the Cancer Science Institute of Singapore at the National University of Singapore has revealed that RUNX proteins are integral to efficient DNA repair via the Fanconi Anemia pathway.

15 Aug 2018

Otsuka’s JINARC approved for treatment of patients with CKD stage 4 ADPKD

Otsuka Pharmaceutical Europe Ltd. today announced that the European Commission has approved an extension of indication for JINARC to include adult patients with CKD stage 4 Autosomal Dominant Polycystic Kidney Disease

2 Aug 2018

Pioneering research takes major step forward in the fight against cystic fibrosis

The fight against cystic fibrosis has taken a major step forward, with pioneering research by University of Adelaide scientists showing that cells causing the debilitating genetic disorder could be successfully replaced with healthy ones.

2 Aug 2018

New study aims to develop nucleoside therapy as treatment for mitochondrial depletion syndromes

Hundreds of types of mitochondrial disease affect up to 38 million people worldwide, yet there are very few effective treatments, forcing patients and doctors to rely on symptom management to battle the serious and potentially fatal genetic disorder that starves the body’s cells of energy.

27 Jul 2018

New drug offers hope to prevent attacks of hereditary angioedema

Hereditary angioedema is a chronic disorder that can sometimes be life-threatening. Now, a new drug therapy has been successfully tested in an international study headed by the University Hospital Frankfurt.

26 Jul 2018

Researchers investigate recessive genetic disorder that leads to childhood blindness

Our genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication in disease.

23 Jul 2018

UC San Diego researchers awarded two grants for investigating stem cell-based therapies

The governing board of the California Institute for Regenerative Medicine unanimously approved this week two grants worth more than $2.2 million to University of California San Diego School of Medicine researchers investigating stem cell-based therapies for a rare genetic disorder that affects the heart and a chronic, progressive affliction of the lungs.

20 Jul 2018

Novel delivery system for bacteriophages could offer new way to battle lung infections

A new delivery system for bacteriophages - viruses that selectively attack harmful bacteria - could help give doctors a new way to battle lung infections that threaten older patients and people with cystic fibrosis.

17 Jul 2018

Senate Committee recommends change in laws to prevent mitochondrial disease in Australian babies

Australian women at risk of having babies suffering severe mitochondrial disease may soon be able to have healthy children, following the Senate Community Affairs References Committee recommendation to move towards legalizing mitochondrial donation, a ground-breaking IVF technique that replaces energy-generating DNA in the mother’s egg with donor material.

6 Jul 2018

Scientists focus on critical regulatory protein to find clues on cancer, neurodegenerative diseases

James McNew's and Michael Stern's biochemical hunt for the root cause of a rare, paralyzing genetic disorder is a 10-year quest that's taken an unexpected turn toward everyday killers such as Alzheimer's disease, cancer and aging.

30 Jun 2018

Researchers work on new treatment that could improve lives of cystic fibrosis patients

Researchers at Oregon State University and Oregon Health & Science University are working on a treatment that holds great promise for improving the lives of cystic fibrosis patients.

25 Jun 2018

Practicing with fake organs helps surgeon to perform complex cancer surgery

Anthony Camnetar remembers the first time he was told that he had von Hippel-Lindau syndrome, a rare genetic disorder.

7 Jun 2018

New cell-based technologies could help improve understanding of muscle-wasting disease

Researchers from Queen Mary University of London have developed new cell-based technologies which could help improve understanding of the muscle-wasting disease Duchenne muscular dystrophy (DMD) and test potential drugs for the disease.

6 Jun 2018

New way of delivering gene therapy shows promise in treating brain conditions

Researchers from the School of Immunology & Microbial Sciences have engineered a novel way of delivering gene therapy that they hope will mean scientists and doctors can target areas of the brain that were previously difficult to reach.

5 Jun 2018

FDA approves first stand-alone prosthetic iris in the U.S.

The U.S. Food and Drug Administration today approved the first stand-alone prosthetic iris in the United States, a surgically implanted device to treat adults and children whose iris (the colored part of the eye around the pupil) is completely missing or damaged due to a congenital condition called aniridia or other damage to the eye.

30 May 2018

Skin cream containing rapamycin reduces TSC-related facial tumors

Addressing a critical issue for people with a genetic disorder called tuberous sclerosis complex, doctors at The University of Texas Health Science Center at Houston reported that a skin cream containing rapamycin significantly reduced the disfiguring facial tumors affecting more than 90 percent of people with the condition.

23 May 2018

Researchers reveal mechanisms of periodic paralysis in people with rare genetic disorder

A rare genetic disorder in which people are suddenly overcome with profound muscle weakness is caused by a hole in a membrane protein that allows sodium ions to leak across cell membranes, researchers at the University of Washington School of Medicine in Seattle have found.

21 May 2018

MSU students develop exoskeleton app for patient with Duchenne muscular dystrophy

Zach Smith has Duchenne muscular dystrophy, a genetic disorder marked by progressive muscle degeneration. His lack of muscle control and being in a wheelchair made him a prime candidate for a computer-controlled exoskeleton arm.

3 May 2018