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.

Scientists discover mechanism behind unusual form of tissue regeneration in the liver

By studying a rare liver disease called Alagille syndrome, scientists from Cincinnati Children's and the University of California San Francisco (UCSF) have discovered the mechanism behind an unusual form of tissue regeneration that may someday reduce the need for expensive and difficult-to-obtain organ transplants.

3 May 2018

New technique developed to improve diagnosis of vision disorders

A new technique that could help improve diagnosis of vision disorders has been successfully tested at the University of Bradford, UK.

2 May 2018

Scientists find link between over-accumulation of mitochondrial iron and Huntington's disease

Scientists at the University of Wyoming have found that mice engineered to have Huntington's disease (HD) have an over-accumulation of iron in their mitochondria.

11 Apr 2018

Study reveals differences in the brains of children with fragile X syndrome

For the first time, UNC School of Medicine researchers have used MRIs to show that babies with the neurodevelopmental condition fragile X syndrome had less-developed white matter compared to infants that did not develop the condition.

4 Apr 2018

FDA-approved drug for chemical abortion shows promise for treatment of vestibular schwannoma

Massachusetts Eye and Ear researchers have shown that mifepristone, a drug currently FDA-approved for chemical abortion, prevents the growth of vestibular schwannoma cells. This sometimes-lethal intracranial tumor typically causes hearing loss and tinnitus

3 Apr 2018

Researchers aim to reveal new direction for Barth syndrome treatment

The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."

28 Mar 2018

Research highlights methods to identify antibiotic related kidney damage in children with CF

New research, published in Nature Scientific Reports, conducted by the University and partners highlights effective methods for identifying a common side effect in children receiving drug treatments for Cystic fibrosis.

28 Mar 2018

Study finds low treatment rates for people with elevated cholesterol levels

Less than 40 percent of people with severe elevations in cholesterol are being prescribed appropriate drug treatment, according to a nationally representative study reported in the American Heart Association's journal Circulation.

26 Mar 2018

Research establishes use of chimeric cells as potential therapy for Duchenne muscular dystrophy

Cells made by fusing a normal human muscle cell with a muscle cell from a person with Duchenne muscular dystrophy --a rare but fatal form of muscular dystrophy -- were able to significantly improve muscle function when implanted into the muscles of a mouse model of the disease.

16 Mar 2018

Newly-discovered hereditary mutation leads to increased production of EPO in the blood

A newly-discovered hereditary mutation is responsible for an increased production of erythropoietin (EPO) in the blood.

8 Mar 2018

Researchers describe important step toward gene therapy for patients with Sandhoff disease

Babies with the rare, deadly genetic disorder Sandhoff disease begin to miss developmental milestones just months after birth. Lacking muscle tone, they never learn to sit up, develop heads too large to lift and eventually suffer uncontrollable seizures. There is no cure.

22 Feb 2018

Study sheds light on biological mechanisms that drive rare pediatric neurogenetic disorders

Researchers studying a rare genetic disorder that causes severe, progressive neurological problems in childhood have discovered insights into biological mechanisms that drive the disease, along with early clues that an amino acid supplement might offer a targeted therapy.

22 Feb 2018

Study shows safety, efficacy of intravenous bevacizumab treatment for HHT related bleeding

Intravenous bevacizumab should be considered as a first-line therapy for the treatment of refractory bleeding in patients with severe hereditary hemorrhagic telangiectasia, reports Mayo Clinic Proceedings

29 Jan 2018

Discovery may offer new therapeutic approach for kids with Prader-Willi syndrome

Stem cell researchers at UConn Health have reversed Prader-Willi syndrome in brain cells growing in the lab, findings they recently published in the Human Molecular Genetics.

27 Jan 2018

Researchers find new method to overcome major challenge of stem cell therapy

Researchers have discovered a new technique that overcomes one of the major challenges of stem cell therapy.

25 Jan 2018

Scientists identify protein biomarkers to track patients with Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal genetic disorder which causes sufferers to age prematurely.

19 Jan 2018

Children born with Down's syndrome have superior genome that compensates for disability

Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term.

19 Jan 2018

Study reveals new diabetes gene in families with rare blood sugar conditions

A study of families with rare blood sugar conditions has revealed a new gene thought to be critical in the regulation of insulin, the key hormone in diabetes.

16 Jan 2018

UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1

Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1.

28 Dec 2017

Huntington's disease drug clears initial hurdles - raising hopes

Huntington’s disease is a genetic disorder that affects the brain progressively and has no known cure till date. In a breakthrough, the first drug that can target and reduce the cause behind this dreaded disease has been found to be effective, safe and well tolerated in a human clinical trial that was conducted by UCL scientists.

11 Dec 2017