Joubert Syndrome News and Research

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Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
New mouse model for Joubert Syndrome developed

New mouse model for Joubert Syndrome developed

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

Scientists get unprecedented view of brain development through high-resolution genomic map

Scientists get unprecedented view of brain development through high-resolution genomic map

Scientists find fast way to manipulate cell's cilia

Scientists find fast way to manipulate cell's cilia

Molecular biologists identify enzyme that activates and ‘supercharges’ cellular machinery

Molecular biologists identify enzyme that activates and ‘supercharges’ cellular machinery

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

TSRI scientists map out protein structure involved in cellular function, nervous system development

TSRI scientists map out protein structure involved in cellular function, nervous system development

Researchers examine why tubulin acetyltransferase is important for brain health

Researchers examine why tubulin acetyltransferase is important for brain health

Researchers pinpoint role of Arl13b gene in guiding placement of neurons during brain development

Researchers pinpoint role of Arl13b gene in guiding placement of neurons during brain development

Study reveals how interneurons navigate during cerebral cortex development

Study reveals how interneurons navigate during cerebral cortex development

Exome sequencing may also improve diagnoses and guide individual patient care

Exome sequencing may also improve diagnoses and guide individual patient care

Study: C5ORF42 gene contributes to Joubert Syndrome

Study: C5ORF42 gene contributes to Joubert Syndrome

Researchers discover how genetic mutations cause rare human diseases

Researchers discover how genetic mutations cause rare human diseases

CAMH scientist identifies gene responsible for Joubert syndrome

CAMH scientist identifies gene responsible for Joubert syndrome

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

Gene implicated in JSRDs: UCD research team publishes new information

Gene implicated in JSRDs: UCD research team publishes new information

Researchers gain new understanding of cilial protein Arl13b in Joubert syndrome

Researchers gain new understanding of cilial protein Arl13b in Joubert syndrome

Global Genes Project: World Rare Disease Day 2010, a tremendous success

Global Genes Project: World Rare Disease Day 2010, a tremendous success

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews