Rare Disease News and Research

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Research team provides new insights on the communication between liver and brain

A research team in Vienna is investigating how calorie intake, liver activity and fat storage interact and what role the central nervous system plays in this.

10 Jun 2020

Drug offers hope for patients with primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that begins in childhood and adolescence.

8 Jun 2020

3D facial imaging could speed diagnoses of genetic syndromes

Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis -- a long, exhausting process that takes its toll on children and their families. Almost half of these children never get a definitive diagnosis.

4 Jun 2020

Study reveals biochemical alterations in patients with Lesch-Nyhan disease

An international study by the Institute of Neuroscience of the UAB, Emory University and Hospital Universitario La Paz, published in the PNAS journal, shows that patients suffering from Lesch-Nyhan, a rare neurological disease, present biochemical alterations in skin cells (fibroblasts), urine and cerebrospinal fluid.

4 Jun 2020

Phase III clinical trial shows benefit of rituximab for pediatric Burkitt lymphoma

Results of the phase III Inter-B-NHL-ritux 2010 clinical trial reported today in the New England Journal of Medicine show 95 percent three-year survival for pediatric patients with advanced B-cell non-Hodgkin lymphoma treated with the addition of anti-cancer immunotherapy rituximab to standard chemotherapy.

3 Jun 2020

Rare deadly disease linked to coronavirus infection seen in children

Now, new evidence has shown that children with coronavirus disease (COVID-19) experience a Kawasaki-like illness, called multisystem inflammatory syndrome in children (MIS-C). The complication is akin to toxic shock syndrome, a condition that occurs due to sepsis. Though rare, the condition is life-threatening.

29 May 2020

Scientists from gnomAD Consortium release 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.

28 May 2020

New mathematical model to study the behavior of the human heart

Having now reached its third year, Project "iHEART" of Politecnico di Milano, winner of an ERC Advanced Grant of euro 2,350,000, has set itself the ambitious goal of creating a complete mathematical model to study the behavior of the human heart and of its pathologies, a sort of "virtual microscope."

20 May 2020

Experts define TRAF7 syndrome-associated phenotype spectrum

An international multicentre study describes a rare disease characterized by a series of recognizable facial features, cardiac defects and intellectual disability, which they propose to name as TRAF7 syndrome -according to the name of the gen that causes this pathology.

19 May 2020

A promising treatment for chronic inflammatory liver disease

Primary sclerosing cholangitis (PSC) is a rare, chronic, inflammatory disease of the bile ducts and is difficult to treat.

14 May 2020

Water fluoridation not linked to increased risk of osteosarcoma, study shows

The Journal of Dental Research published today the results of a study that demonstrated that community water fluoridation is not associated with increased risk of osteosarcoma.

12 May 2020

Researchers discover molecular mechanism that helps HSV1 infect the brain

Herpes simplex virus (HSV1) infections are initiated at mucosal surfaces where the virus infects epithelial cells.

8 May 2020

Radboudumc researchers find essential mechanism in the disease process of COVID-19

Researchers at the Radboud University Medical Center seem to have found an essential mechanism in the disease process of COVID-19, which has so far been overlooked.

29 Apr 2020

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital has launched a two-pronged study of COVID-19 disease among children and youth up to age 25 across the country, with $2.1 million in funding from the Centers for Disease Control and Prevention.

28 Apr 2020

Study calls for better data framework to enhance rare disease diagnostic rates

A better framework for the reanalysis of genetic data, a game-changing process which could improve diagnostic rates by up to 32 per cent, was needed, a new study has found.

17 Apr 2020

Hinge Therapeutics and TUT collaborate to advance drug discovery by ion imaging

Hinge Therapeutics is an early-stage biopharmaceutical company focused on developing small-molecule therapeutics against traditionally undruggable/challenging targets for unmet medical needs.

9 Apr 2020

Study suggests targeted cancer therapy could help with rare neurologic disease

A targeted therapy currently studied for treatment of certain cancers may be beneficial in treating other neurologic diseases.

6 Apr 2020

Study of rare genetic disorder that causes severe eyesight problems

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.

3 Apr 2020

Weakness in lung and kidney cancer cells could serve as therapeutic target

An important discovery about how some cancers rely on glucose to survive could lead to development of tumor-specific treatments.

30 Mar 2020

C-Path awarded FDA grant to establish Rare Disease Clinical Outcome Assessment Consortium

The U.S. Food and Drug Administration's Center for Drug Evaluation and Research has funded a cooperative agreement to establish a Rare Disease Clinical Outcome Assessment Consortium.

21 Mar 2020