Rare Disease News and Research

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Government funding to accelerate research in AI healthcare technologies

Government funding to accelerate research in AI healthcare technologies

Product development and drug delivery at Seda

Product development and drug delivery at Seda

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

Toxic protein may be the cause of muscular dystrophy and arhinia

Toxic protein may be the cause of muscular dystrophy and arhinia

Researchers discover new neurological condition characterized by issues with motor coordination and speech

Researchers discover new neurological condition characterized by issues with motor coordination and speech

Study examines clinical risk factors for kidney function decline in children with CKD

Study examines clinical risk factors for kidney function decline in children with CKD

Cryo-EM reveals the structure of hnRNPDL-2 protein fibrils associated with limb-girdle muscular dystrophy

Cryo-EM reveals the structure of hnRNPDL-2 protein fibrils associated with limb-girdle muscular dystrophy

Researchers develop a cell line to address the challenges facing cellular modeling of disease

Researchers develop a cell line to address the challenges facing cellular modeling of disease

New 'cutting edge' hemophilia treatment is a victory for patients, Tulane doctor says

New 'cutting edge' hemophilia treatment is a victory for patients, Tulane doctor says

Using motion capture technology and AI to monitor the progression of movement disorders

Using motion capture technology and AI to monitor the progression of movement disorders

UK set to boost genomics expertise through a landmark partnership with Thailand

UK set to boost genomics expertise through a landmark partnership with Thailand

What does the future of clinical trials and evidence-based medicine look like?

What does the future of clinical trials and evidence-based medicine look like?

Researchers develop innovative STAb therapy for a type of leukemia

Researchers develop innovative STAb therapy for a type of leukemia

Incurable liver disease could be reversed with a single drug

Incurable liver disease could be reversed with a single drug

Study shows the clinical utility of amniotic fluid cells RNA-sequencing in prenatal rare disease diagnosis

Study shows the clinical utility of amniotic fluid cells RNA-sequencing in prenatal rare disease diagnosis

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