(spongiform degeneration) is inherited in an autosomal recessive manner but may be sporadic, due to abnormality of the aspartylacylase (ASPA) gene on chromosome 17.
Leah Cambridge was diagnosed with Canavan's Disease
- a degenerative brain condition - when she was just six months old.
In the neurological arena, there has previously been one study of direct, or in-vivo, gene therapy for a rare pediatric neurogenetic disorder called Canavan's disease
to try to protect cells that are dying.
She and her partner want to know about their risk of Tay-Sachs and Canavan's disease
, given that they are both of Asbkenazi Jewish heritage.
Five years ago, Reuben Matalon began to lift the veil of obscurity shrouding Canavan's disease, a fatal brain disorder that afflicts mostly Jewish children of Eastern European ancestry.
Canavan's disease, also called spongy brain degeneration, strikes one in roughly 3,500 children in the Ashkenazic Jewish community and one in 3,000 to 40,000 children in other populations, estimates Matalon.
The results from an EAE model indicate that this drug may also have therapeutic potential for a great number of other neurologic conditions such as Acute Disseminated Encephalomyelitis, Transverse Myelitis, Krabbe's Leukodystrophy, Alexander's Disease, Canavan's Disease
and Adrenoleukodystrophy," he concluded.
Her breakthrough discoveries in the treatment of Canavan's Disease
are the foundation from which new therapies will emerge.
Sinai research program called FACES, short for the Fight Against Childhood Epilepsy and Seizures, as well as others that research cures for Cystic Fibrosis, Canavan's Disease