Rare Disease News and Research

RSS
International report offers recommendations to reduce school-related sedentary behavior in children

International report offers recommendations to reduce school-related sedentary behavior in children

$4 million program launched to find transformative therapies for ADNP syndrome

$4 million program launched to find transformative therapies for ADNP syndrome

Review: Common clinical features of pediatric antiphospholipid syndrome

Review: Common clinical features of pediatric antiphospholipid syndrome

Study takes a new approach to looking at de novo genetic variants in autism

Study takes a new approach to looking at de novo genetic variants in autism

NCCN publishes new resources for treating rare tumor types

NCCN publishes new resources for treating rare tumor types

Study reveals new insights on how immune system cells respond to disease-causing pathogens

Study reveals new insights on how immune system cells respond to disease-causing pathogens

World's largest genetic study reveals fresh details about severe Covid-19

World's largest genetic study reveals fresh details about severe Covid-19

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

Tiny lipid-based nanoparticles carry genetic instructions directly into the lungs

Tiny lipid-based nanoparticles carry genetic instructions directly into the lungs

Codiak's publication highlights the ability of exoASO-STAT6 to selectively target tumor-associated macrophages

Codiak's publication highlights the ability of exoASO-STAT6 to selectively target tumor-associated macrophages

Artificial intelligence uses facial features to better diagnose rare genetic diseases

Artificial intelligence uses facial features to better diagnose rare genetic diseases

Gene variants associated with acute kidney injury in Black veterans hospitalized with COVID-19

Gene variants associated with acute kidney injury in Black veterans hospitalized with COVID-19

C-Path and EJP RD collaborate to expand global rare disease research and drug development

C-Path and EJP RD collaborate to expand global rare disease research and drug development

Genetic diagnosis in cerebral palsy patients could change the approach to care

Genetic diagnosis in cerebral palsy patients could change the approach to care

Novel gene therapy for diseased muscle fiber repair

Novel gene therapy for diseased muscle fiber repair

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

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

Discovery opens up the possibility of pursuing new therapies for FOP

Discovery opens up the possibility of pursuing new therapies for FOP

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