Rare Disease News and Research

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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.

18 Oct 2021

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites.

15 Oct 2021

Scientists identify 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

New study aims to find early drivers of pulmonary fibrosis in at-risk patient population

Researchers at Vanderbilt University Medical Center are leading a study designed to identify early drivers of pulmonary fibrosis in an at-risk patient population. Funding for the research, which could help predict early disease at the cellular level and possibly drive the development of novel therapies, is being provided by Three Lakes Foundation.

6 Oct 2021

Researchers identify mechanism that can lead to deafness in rare 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.

5 Oct 2021

Kawasaki Disease presents a growing threat to UK children’s heart health

Today, on World Heart Day, Societi, the UK Kawasaki Disease Foundation is campaigning to protect tiny hearts — by highlighting the urgent need for awareness of Kawasaki Disease – the leading cause of acquired heart disease in U.K. children.

29 Sep 2021