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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