Rare Disease News and Research

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

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

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

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

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

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

Scientists publish the most extensive description to date of WAGR syndrome

Scientists publish the most extensive description to date of WAGR syndrome

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

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

Researchers discover mechanism for congenital disorders of glycosylation

Researchers discover mechanism for congenital disorders of glycosylation

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

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

Scientists identify new genes associated with familial Meniere's disease

Scientists identify new genes associated with familial Meniere's disease

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

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

Rare disease diagnosis by 100,000 genomes pilot

Rare disease diagnosis by 100,000 genomes pilot

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

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

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

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

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

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

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

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

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

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

Researchers illustrate the importance and value of sharing negative research results

Researchers illustrate the importance and value of sharing negative research results

Three new genetic variants linked to fibromuscular dysplasia

Three new genetic variants linked to fibromuscular dysplasia

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

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

Scientists identify gene responsible for food-dependent form of Cushing's Syndrome

Scientists identify gene responsible for food-dependent form of Cushing's Syndrome

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

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