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Study reveals gene responsible for food-dependent form of Cushing's Syndrome

A team of scientists in Montreal and Paris has succeeded in identifying the gene responsible for the development of a food-dependent form of Cushing's Syndrome, a rare disease affecting both adrenal glands.

15 Oct 2021

Researchers identify the mechanism leading to deafness in Norrie disease

A team of Mass Eye and Ear Scientists led by Albert Edge, PhD, working with research fellow Yushi Hayashi, MD, PhD, has identified the mechanism that can lead to deafness in the rare syndrome, Norrie disease.

6 Oct 2021

New gene editing approach bypasses disease-causing mutations

A new approach to gene editing using the CRISPR/Cas9 system bypasses disease-causing mutations in a gene, enabling treatment of genetic diseases linked to a single gene, such as cystic fibrosis, certain types of sickle cell anemia, and other rare diseases.

From Penn State University 22 Apr 2021

Nutritional supplement may reduce the risk of strokes caused by a rare genetic disorder

Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.

24 Mar 2021

Absence of TRIM37 protein boosts genetic instability in patients with Mulibrey syndrome

Researchers from the Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), in collaboration with the Swiss Institute for Experimental Cancer Research (ISREC) have studied the mechanisms behind the higher tendency of people with Mulibrey syndrome to develop tumors.

1 Mar 2021

Genetic testing technology is extremely unreliable in detecting very rare genetic variants

According to a new study, a technology that is extensively used by commercial genetic testing firms is “extremely unreliable” in identifying very rare variants.

From University of Exeter 16 Feb 2021

Appendiceal cancer among young patients harbors a distinct biology, shows study

The first study to compare molecular landscapes of early-onset and late-onset appendiceal cancer has revealed distinct non-silent mutations in the tumors of younger patients, setting the stage for the development of potential therapeutic advances for this rare disease.

From Vanderbilt University 10 Dec 2020

Vacuolar Tauopathy: New, rare genetic form of dementia discovered

A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain -- which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer's Disease -- that could be targeted for new therapies. The study was published today in Science.

5 Oct 2020

Study shows how genetic variants affect gene regulation and contribute to disease risk

The multi-institutional Genotype-Tissue Expression (GTEx) Consortium has published its final series of studies, as part of a final-phase initiative.

14 Sep 2020

New tumor gene test could help predict survival of women with ovarian cancer

A global team of medical researchers led by UNSW have developed a test that could help to predict survival for women diagnosed with ovarian cancer, and pave the way towards personalised treatment.

From The University of New South Wales (UNSW) 19 Aug 2020

Yale researchers uncover mechanism driving Wolfram Syndrome

Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment.

20 Jul 2020

Whole genome sequencing can improve rare disease diagnosis

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

25 Jun 2020

gnomAD Consortium releases first set of discoveries on human genetic variation

For the last eight years, the Genome Aggregation Database Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more than 125,000 exomes and 15,000 whole genomes from populations around the world.

29 May 2020

Study could bolster understanding and treatment for rare, genetic eye disease

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

6 Apr 2020