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Researchers establish and characterize a stable iPSC line for modeling human disease

Researchers establish and characterize a stable iPSC line for modeling human disease

Study identifies genetic mutation in the SPTSSA gene as cause of Hereditary Spastic Paraplegia

Study identifies genetic mutation in the SPTSSA gene as cause of Hereditary Spastic Paraplegia

3D “mini eyes” provide insight into genetically induced blindness

3D “mini eyes” provide insight into genetically induced blindness

Pioneering gene editing approach could lead to new treatments for CTLA-4 insufficiency

Pioneering gene editing approach could lead to new treatments for CTLA-4 insufficiency

New insight into human genome evolution

New insight into human genome evolution

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Researchers get funding to develop a vaccine against ALS disease

Researchers get funding to develop a vaccine against ALS disease

Research identifies the main gene that causes developmental disability syndrome

Research identifies the main gene that causes developmental disability syndrome

Lifebit; Making Biomedical Data Accessible

Lifebit; Making Biomedical Data Accessible

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

First molecular images of enzyme may help solve the mystery cause of hereditary neurodegenerative diseases

First molecular images of enzyme may help solve the mystery cause of hereditary neurodegenerative diseases

Experts introduce new gene therapy approach for muscle weakness

Experts introduce new gene therapy approach for muscle weakness

Study finds novel genes linked to fibromuscular dysplasia using genetic meta-analysis

Study finds novel genes linked to fibromuscular dysplasia using genetic meta-analysis

Study reveals gene responsible for food-dependent form of Cushing's Syndrome

Study reveals gene responsible for food-dependent form of Cushing's Syndrome

Researchers identify the mechanism leading to deafness in Norrie disease

Researchers identify the mechanism leading to deafness in Norrie disease

New gene editing approach bypasses disease-causing mutations

New gene editing approach bypasses disease-causing mutations

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