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Drug offers hope for patients with primary hyperoxaluria type 1

Drug offers hope for patients with primary hyperoxaluria type 1

3D facial imaging could speed diagnoses of genetic syndromes

3D facial imaging could speed diagnoses of genetic syndromes

Study reveals biochemical alterations in patients with Lesch-Nyhan disease

Study reveals biochemical alterations in patients with Lesch-Nyhan disease

Phase III clinical trial shows benefit of rituximab for pediatric Burkitt lymphoma

Phase III clinical trial shows benefit of rituximab for pediatric Burkitt lymphoma

Rare deadly disease linked to coronavirus infection seen in children

Rare deadly disease linked to coronavirus infection seen in children

Scientists from gnomAD Consortium release first set of discoveries on human genetic variation

Scientists from gnomAD Consortium release first set of discoveries on human genetic variation

New mathematical model to study the behavior of the human heart

New mathematical model to study the behavior of the human heart

Experts define TRAF7 syndrome-associated phenotype spectrum

Experts define TRAF7 syndrome-associated phenotype spectrum

A promising treatment for chronic inflammatory liver disease

A promising treatment for chronic inflammatory liver disease

Water fluoridation not linked to increased risk of osteosarcoma, study shows

Water fluoridation not linked to increased risk of osteosarcoma, study shows

Researchers discover molecular mechanism that helps HSV1 infect the brain

Researchers discover molecular mechanism that helps HSV1 infect the brain

Radboudumc researchers find essential mechanism in the disease process of COVID-19

Radboudumc researchers find essential mechanism in the disease process of COVID-19

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Study calls for better data framework to enhance rare disease diagnostic rates

Study calls for better data framework to enhance rare disease diagnostic rates

Hinge Therapeutics and TUT collaborate to advance drug discovery by ion imaging

Hinge Therapeutics and TUT collaborate to advance drug discovery by ion imaging

Study suggests targeted cancer therapy could help with rare neurologic disease

Study suggests targeted cancer therapy could help with rare neurologic disease

Study of rare genetic disorder that causes severe eyesight problems

Study of rare genetic disorder that causes severe eyesight problems

Weakness in lung and kidney cancer cells could serve as therapeutic target

Weakness in lung and kidney cancer cells could serve as therapeutic target

C-Path awarded FDA grant to establish Rare Disease Clinical Outcome Assessment Consortium

C-Path awarded FDA grant to establish Rare Disease Clinical Outcome Assessment Consortium

Recognizing CDKL5 Deficiency Disorder

Recognizing CDKL5 Deficiency Disorder