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 new mutation signature in cancer cells

Mutations are the replacement of DNA bases known as Adenine (A), Cytosine (C), Guanine (G) and Thymine (T) with other bases. When mutations such as C to T or G to A are found within a specific DNA sequence, this is known as a mutation signature.

10 Feb 2016

Vienna researchers investigate new light therapy treatment for people with migraines

Migraines often involve heightened sensitivity to light. In a project funded by the Austrian Science Fund FWF, a team of researchers from the Medical University of Vienna is investigating new therapies to treat light sensitivity, which greatly disturbs those affected.

9 Feb 2016

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

8 Feb 2016

U.S. panel endorses “three-parent” IVF technique

An expert committee have recommended that the U.S. government allows the clinical investigation of mitochondrial replacement techniques (MRT) to go ahead.

4 Feb 2016

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected.

3 Feb 2016

UAB research explores neurofibromatosis type 1

It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking. A vivid example of that is seen in the University of Alabama at Birmingham Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders.

3 Feb 2016

Mild reduction in food intake slows development of autosomal-dominant polycystic kidney disease

A small reduction in food intake—less than required to cause weight loss—dramatically slowed the development of a common genetic disorder called autosomal-dominant polycystic kidney disease (ADPKD) in mice, a new study in American Journal of Physiology—Renal Physiology reports.

30 Jan 2016

Genetic mutations could help explain cause of cancer in pediatric patients

Combined whole exome tumor and blood sequencing in pediatric cancer patients revealed mutations that could help explain the cause of cancer or have the potential to impact clinical cancer care in 40 percent of patients in a study led by researchers from Baylor College of Medicine and Texas Children's Cancer Center.

29 Jan 2016

Three Case Western faculty members receive funding to develop new diagnostic technologies

Three Case Western Reserve University faculty members have received funding to further develop emerging technologies aimed at malaria, cystic fibrosis, and sickle cell anemia.

29 Jan 2016

Patients who receive information about coronary artery disease risk make improvements to health behaviors

A new study led by researchers at Brigham and Women's Hospital has found that providing unanticipated information about risk of coronary artery disease during a genetic risk assessment for Alzheimer's disease helped some participants cope with their results, and also motivated participants to make changes to their health behaviors.

27 Jan 2016

New €5.6 million project aims to develop cell-based haemophilia A therapy

Loughborough University is working with a team of international partners on a new €5.6 million project to develop a cell based haemophilia A therapy.

25 Jan 2016

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

25 Jan 2016

PGD model could provide policy guideposts for human genome editing

Human genome editing for both research and therapy is progressing, raising ethical questions among scientists around the world.

22 Jan 2016

Berlin researchers identify defects in myotubular myopathy

Tiny deviations in the body's cells can sometimes have severe consequences. Researchers from Berlin have discovered why cells from patients suffering from the rare muscular disease myotubular myopathy cannot function properly.

21 Jan 2016

UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

University of California, Berkeley, researchers have made a major improvement in CRISPR-Cas9 technology that achieves an unprecedented success rate of 60 percent when replacing a short stretch of DNA with another.

21 Jan 2016

Variations in RANBP1 gene may disrupt brain signaling in neuropsychiatric conditions

Scientists have identified a gene that appears to play a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome.

20 Jan 2016

UConn-led researchers identify specific gene linked to Hajdu-Cheney syndrome

Fragile bones are usually an old person's affliction, but sometimes children are born with them. Now, a team of researchers led by UConn professor Ernesto Canalis has shown in mice that a specific gene can cause the disease, called Hajdu-Cheney syndrome. Overabundant bone-absorbing cells may be causing the disorder's characteristic bone loss, and the researchers hope to find a potential treatment.

18 Jan 2016

New gene-filtering tool aims to predict disease-causing mutations

Despite their bad reputations, the vast majority of mutations are not harmful. Even in very rare genetic disorders, only one or two genetic variations — out of tens of thousands — is actually the cause of disease. Distinguishing between harmful and harmless mutations has long been a challenge.

13 Jan 2016

Researchers discover molecular target for DNA repair defects behind Fanconi anemia

Researchers have identified a molecular target and experimental treatment strategy for DNA repair defects behind Fanconi anemia – a complex genetic disorder responsible for birth anomalies, organ damage, anemia and cancer.

12 Jan 2016

Purified cannabinoid reduces seizures in children and young adults with treatment-resistant epilepsy

Children and young adults with severe forms of epilepsy that does not respond to standard antiepileptic drugs have fewer seizures when treated with purified cannabinoid, according to a multi-center study led by researchers from UCSF Benioff Children's Hospital San Francisco.

6 Jan 2016