Rare Disease News and Research

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Nutritional supplement may reduce the risk of strokes caused by a rare genetic disorder

Nutritional supplement may reduce the risk of strokes caused by a rare genetic disorder

Absence of TRIM37 protein boosts genetic instability in patients with Mulibrey syndrome

Absence of TRIM37 protein boosts genetic instability in patients with Mulibrey syndrome

Genetic testing technology is extremely unreliable in detecting very rare genetic variants

Genetic testing technology is extremely unreliable in detecting very rare genetic variants

Appendiceal cancer among young patients harbors a distinct biology, shows study

Appendiceal cancer among young patients harbors a distinct biology, shows study

Vacuolar Tauopathy: New, rare genetic form of dementia discovered

Vacuolar Tauopathy: New, rare genetic form of dementia discovered

Study shows how genetic variants affect gene regulation and contribute to disease risk

Study shows how genetic variants affect gene regulation and contribute to disease risk

New tumor gene test could help predict survival of women with ovarian cancer

New tumor gene test could help predict survival of women with ovarian cancer

Yale researchers uncover mechanism driving Wolfram Syndrome

Yale researchers uncover mechanism driving Wolfram Syndrome

Whole genome sequencing can improve rare disease diagnosis

Whole genome sequencing can improve rare disease diagnosis

gnomAD Consortium releases first set of discoveries on human genetic variation

gnomAD Consortium releases first set of discoveries on human genetic variation

Study could bolster understanding and treatment for rare, genetic eye disease

Study could bolster understanding and treatment for rare, genetic eye disease