Rare Disease News and Research

RSS
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

Researchers identify mechanism that can lead to deafness in rare Norrie disease

Researchers identify mechanism that can lead to deafness in rare Norrie disease

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

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

Primary sclerosing cholangitis: Therapy with synthetic bile acid acts directly on the immune system

Primary sclerosing cholangitis: Therapy with synthetic bile acid acts directly on the immune system

New RDCA-DAP program launches to accelerate rare disease treatment innovation

New RDCA-DAP program launches to accelerate rare disease treatment innovation

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

First rat model recapitulates all disabling alterations experienced by patients with Morquio A disease

First rat model recapitulates all disabling alterations experienced by patients with Morquio A disease

Activated mast cell disorders potentially linked to SARS-CoV-2 immunity

Activated mast cell disorders potentially linked to SARS-CoV-2 immunity

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Researchers develop a machine learning-based screening tool for genetic syndromes in children