Early access via large-scale clinical study to establish the validity and utility of the FirstGene TM screen ...

Epidermolysis bullosa is a rare and severe skin disease where patients have fragile skin that blisters and tears. A Mt.

Australia is a nation in decline. Across every indicator you can imagine – economy, living standards, social cohesion, crime, health, military capability, the creativity and virtuosity of the arts – ...

SETU has secured major international funding for rare disease gene therapy research. A research team from the university ...

As a child, she was diagnosed with Canavan Disease, a rare genetic disorder ... a loss of potential knowledge that could have helped people suffering from gene conditions. "This would have just ...

As a child, she was diagnosed with Canavan Disease, a rare genetic disorder that causes the ... For Leone, the loss also represents a loss of potential knowledge that could have helped people ...

Heart disease combined with Ms Canavan's frequent use of alcohol and a brain injury from a fall down the stairs in 2019, would have combined to make her more vulnerable to trauma than a person ...

Canavan disease is a rare autosomal recessive leukodystrophy caused by biallelic pathogenic variants in the ASPA gene. In the current study, targeted long-read sequencing of the entire ASPA gene ...

WE WERE QUITE LITERALLY THE FIRST PEOPLE TO BE TOLD, LIKE, HERE’S SOMETHING THAT YOU CAN SOME HELP, SOME SOME HOPE. DOCTORS AT UMASS CHAN MEDICAL SCHOOL BEGAN WORKING ON CANAVAN DISEASE IN 1989.