Rare Disease News and Research

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Novel gene therapy for diseased muscle fiber repair

In this interview, News-Medical speaks to Dr. Jyoti K. Jaiswal about his latest research into gene therapies for limb-girdle muscular dystrophy 2B.

24 Jan 2022

CENTOGENE teams up with Insilico Medicine to improve therapeutic targets for Niemann-Pick disease type C

A commercial-stage company focused on generating data-driven insights to diagnose, understand and treat rare diseases, and Insilico Medicine, an end-to-end Artificial Intelligence (AI) - driven drug discovery company, today announced a research and development collaboration to accelerate the discovery of novel therapeutic targets for Niemann-Pick disease type C

21 Jan 2022

Discovery opens up the possibility of pursuing new therapies for FOP

Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by extensive bone growth outside of the normal skeleton that pre-empts the body's normal responses to even minor injuries. It results in what some term a "second skeleton," which locks up joint movement and could make it hard to breathe.

16 Jan 2022

Multiple sclerosis may be caused by infection with the Epstein-Barr virus

Multiple sclerosis (MS), a progressive disease that affects 2.8 million people worldwide and for which there is no definitive cure, is likely caused by infection with the Epstein-Barr virus (EBV), according to a study led by Harvard T.H. Chan School of Public Health researchers.

13 Jan 2022

Maternal transfer of healthier gut bacteria helps neonates to resist biliary atresia

Biliary atresia is a rare disease that occurs when a delicate tree-like set of ducts that carry bile from the liver to the intestine becomes scarred and blocked. While some treatments can slow the damage, most children who develop biliary atresia will die without a liver transplant.

10 Jan 2022

New gene therapy addresses primary cellular deficit associated with limb-girdle muscular dystrophy 2B

Children's National Hospital experts developed a new pre-clinical gene therapy for a rare disorder, known as limb-girdle muscular dystrophy (LGMD) 2B, that addresses the primary cellular deficit associated with this disease.

4 Jan 2022

Scientists publish the most extensive description to date of WAGR syndrome

Researchers from Children's Hospital of Philadelphia (CHOP) have published the most comprehensive description to date of the rare genetic disorder known as WAGR syndrome. This new report identified several clinical issues not classically associated with the disease and provides guidance for proper diagnosis, management, and potential treatment options.

21 Dec 2021

First-of-its-kind gene therapy technique reverses severe hearing loss in mice

Hearing loss has been linked to mutations in at least 100 different genes, but up to 16 percent of genetic hearing loss can be traced to just one gene, STRC, the second most common genetic cause.

15 Dec 2021

Researchers discover mechanism for congenital disorders of glycosylation

Greenwood Genetic Center researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).

8 Dec 2021

Mini-stomach organoids could be used to study how SARS-CoV-2 infection affects children

The team, led from Great Ormond Street Hospital (GOSH), UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) and the Istituto Zooprofilattico Sperimentale delle Venezie (Legnaro, Italy), have built on recent advances to grow 'mini-organs' in a laboratory, known as organoids.

2 Dec 2021

Scientists identify new genes associated with familial Meniere's disease

A team of scientists from the University of Granada (UGR) and GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research—led by Pablo Roman-Naranjo and Jose Antonio López-Escámez, researcher in charge of the Biohealth Research Institute in Granada (ibs.GRANADA)—has identified new genes associated with familial Meniere's disease.

1 Dec 2021

Drug improved cardiac structure and function in patients with early-stage hypertrophic cardiomyopathy

Valsartan, an angiotensin II receptor blocker drug, delayed disease progression and improved cardiac structure and function in patients with early-stage hypertrophic cardiomyopathy, according to results from a recent clinical trial published in Nature Medicine.

16 Nov 2021

Rare disease diagnosis by 100,000 genomes pilot

A team of researchers conducted a pilot study that enrolled families and undertook detailed clinical phenotyping of the proband to evaluate the effect of the whole genome sequencing approach on a genetic diagnosis of rare conditions by the NHS in the UK.

12 Nov 2021

Whole senome sequencing can effectively secure a diagnosis for people with rare diseases

A world-first scientific study, published today in the New England Journal of Medicine, has shown that whole genome sequencing can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS.

10 Nov 2021

Multiplex network offers a systematic approach to study rare, uncharacterized diseases

Rare diseases are usually caused by a single genetic defect. Nevertheless, the search for the cause and the assessment of the effects is highly complex and difficult.

9 Nov 2021

Childhood kidney cancers continue to be diagnosed at later stages in the UK and Ireland

Children with kidney cancers continue to be diagnosed with larger and more advanced tumours in the UK and Ireland than in other Western European countries, according to research presented at the NCRI Festival.

8 Nov 2021

Health care costs for people with rare diseases have been underestimated, study shows

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease.

22 Oct 2021

Researchers employ novel algorithm to identify candidate cancer drugs for pulmonary hypertension

By combining computational and experimental approaches, University of Pittsburgh School of Medicine and Prairie View A&M University researchers identified cancer drugs that show promise for treating pulmonary hypertension, or PH, a rare and incurable lung disease.

21 Oct 2021

Researchers illustrate the importance and value of sharing negative research results

In the era of "publish or perish," research results that disprove the hypothesis tested often go unpublished. In addition, many researchers who have been unable to reproduce results from other laboratories have found it difficult to publish their findings.

18 Oct 2021

Three new genetic variants linked to fibromuscular dysplasia

Three new genetic variants that regulate gene expression in the arteries are connected to fibromuscular dysplasia, an arterial disease that can cause dangerous consequences for the heart and vessels, according to a new study.