Thanks to Rare Disease Report for this piece. 

You might not normally associate Batten Disease with comedian Carol Burnett, Grammy winner John Legend or Academy Award nominee Sir Ian McKellen, but one person is making sure its included in the conversation:
 
Researcher Beverly L. Davidson, PhD.

Davidson, Burnett, Legend and McKellen join immunologist James Allison, mathematician Maryam Mirzakhani, environmentalist Lester Brown, and novelist Chimamanda Ngozi Adichieas eight of the 228 people elected to the 2017 class of the American Academy of Arts and Sciences.
 
They will be honored in an induction ceremony on Oct. 7, at the Academy’s headquarters in Cambridge, MA.
 
Dr. Davidson is director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia (CHOP) and her research focuses on understanding the molecular basis of neurodegeneration in inherited brain disorders, including Batten disease, where her team has been very successful in preclinical gene therapy studies.   Additionally, she serves as the Chief Scientific Strategy Officer at CHOP’s Research Institute and is a professor of Pathology and Laboratory Medicine at the Perelman School of Medicine at the University of Pennsylvania.
 
In a recent study, recombinant adeno-associated virus (rAAV) expressing the canine form of TPP1 (caTPP1) was infused into ventricles of dogs lacking caTPP1, which is a model for Batten disease. The study found that in untreated TPP-null dogs, clinical signs of ‘Batten disease’ begin around 5 months of age and most dogs will require euthanasia by 11 or 12 months whereas in the dogs given gene therapy, they lived to be an average of 17.5 months.
 
That study was partially funded by the Batten Disease Support and Research Association (BDSRA), Jasper Against Batten Fund at Partnership for Cures, and Blake’s Purpose Foundation (along with NIH and CHOP funding). The alliance with advocacy groups is in keeping with Dr. Davidson’s understanding with that community that they have a lot of information to provide researchers regarding treatment and symptom relief.
 
The American Academy serves the nation as a champion of scholarship, civil dialogue, and useful knowledge. Founded in 1780, it is one of the country’s oldest learned societies and independent policy research centers.
 
Rare Disease Report would like to congratulate Dr. Davidson. We look forward to her continued success in developing gene therapies for rare genetic diseases.
 

About Batten Disease

Batten disease is a lysosomal storage disorder in which the person lacks a properly functioning enzyme, tripeptidyl peptidase 1 (TPP1)—an enzyme that normally allows brain cells to recycle cellular waste. Children with Batten disease due to TPP1 deficiency, also known as CLN2 disease, have multiple neurological impairments, including severe motor, cognitive, auditory, and visual impairments. Symptoms and seizures usually appear between ages two and four, and the disease progresses, with most children dying by age 10.
 
There are currently no treatments available for Batten disease.  While most lysosomal storage disorders benefit for enzyme replacement therapies, the blood brain barrier makes that type of therapy problematic. Gene therapy, on the other hand, is ideal for conditions such as Batten disease.

Leave a Reply

Your email address will not be published.

X