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Scientists pinpoint the cause of a rare childhood seizure disorder

Scientists pinpoint the cause of a rare childhood seizure disorder

Researchers discover genetic mutation underlying debilitating childhood brain disorder

Researchers discover genetic mutation underlying debilitating childhood brain disorder

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

Regenacy Pharmaceuticals partners with CMTA to advance ricolinostat for treating hereditary neuropathy

Regenacy Pharmaceuticals partners with CMTA to advance ricolinostat for treating hereditary neuropathy

Researchers reveal molecular mechanisms that make people with EV prone to ß-HPVs

Researchers reveal molecular mechanisms that make people with EV prone to ß-HPVs

Harnessing Pediatric Cancer Genomic Data in the Cloud

Harnessing Pediatric Cancer Genomic Data in the Cloud

UT Southwestern scientists identify gene mutation linked with perplexing brain condition

UT Southwestern scientists identify gene mutation linked with perplexing brain condition

Coconut oil diet increases vitality, lifespan of fruit flies with peroxisomal disorder

Coconut oil diet increases vitality, lifespan of fruit flies with peroxisomal disorder

Scientists identify novel genes linked with infantile forms of schizophrenia

Scientists identify novel genes linked with infantile forms of schizophrenia

Diabetes diagnosis may come with increased risk of pancreatic cancer for African-Americans, Latinos

Diabetes diagnosis may come with increased risk of pancreatic cancer for African-Americans, Latinos

Study provides insights into genetics underlying debilitating pediatric kidney disease

Study provides insights into genetics underlying debilitating pediatric kidney disease

Study finds factors that help or hinder patient involvement in clinical trials of mitochondrial disease

Study finds factors that help or hinder patient involvement in clinical trials of mitochondrial disease

New cell-based technologies could help improve understanding of muscle-wasting disease

New cell-based technologies could help improve understanding of muscle-wasting disease

New insights regarding challenges in rare disease diagnosis, drug approval, and patient access

New insights regarding challenges in rare disease diagnosis, drug approval, and patient access

Familial Chylomicronemia Syndrome: How HCP’s can Support Patients with Rare Diseases

Familial Chylomicronemia Syndrome: How HCP’s can Support Patients with Rare Diseases

Adding chemotherapy to treatment regimen can give children with PVS a chance to grow up

Adding chemotherapy to treatment regimen can give children with PVS a chance to grow up

Phase 2 study of dexpramipexole in hypereosinophilic syndromes meets its co-primary endpoints

Phase 2 study of dexpramipexole in hypereosinophilic syndromes meets its co-primary endpoints

New review of infants with congenital hyperinsulinism shows surgery benefits

New review of infants with congenital hyperinsulinism shows surgery benefits

Research leads to new potential treatment for Hereditary Hemorrhagic Telangiectasia

Research leads to new potential treatment for Hereditary Hemorrhagic Telangiectasia