Research

Here's a quick look at current and past work--plus a glimpse of the future.

For more information on specific efforts, you can also visit our Links page. We'll update this page as often as possible as new advances are made. You may also click on the link below to view research updates posted by the Batten Disease Support and Research Association:

Batten Disease Research Overview

Within the Federal Government, the focal point for research on Batten Disease and other neurogenetic disorders is the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS, a part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and central nervous system. The Batten Disease Research and Support Association (BDSRA) and the Children's Brain Diseases Foundation also provide financial assistance for research.

Through the work of several scientific teams, the search for the genetic cause of NCLs is gathering speed.

In 1995, scientists in Finland announced the identification of the gene responsible for the infantile form of Batten Disease. The gene, CLN1, is located on Chromosome 1.

Scientists have discovered that the Infantile and Late Infantile diseases are missing key lysosomal enzymes, i.e. Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile and Tripeptidyl Peptidase 1 (TPP1) for Late Infantile. The knowledge that these enzymes are missing is now leading to the development of gene and enzyme replacement and stem cell transplantation therapies.

For links to notable labs and researchers, visit our Links page.

Thanks to the generosity of our donors, Taylor's Tale is able to award grants to support promising Batten Disease research projects.

Sandra Hofmann, M.D., Ph.D., University of Texas Southwestern
"Enzyme Replacement Therapy for Palmitoyl Protein Thioesterase Deficiency (PPT1)"
July 2007
$50,000

The first Taylor's Tale grant was awarded to support Dr. Hofmann's efforts to develop a viable method of enzyme replacement therapy for children with Infantile NCL (INCL). Dr. Hofmann is well-known for her work in the field; her lab discovered PPT1, the enzyme that is lacking or severely deficient in INCL patients. For more information on Dr. Hofmann, click here.

One of the largest roadblocks in the search for a cure, as with other brain-based diseases, is the blood brain barrier. Dr. Hofmann's work focuses on finding a way to cross the blood brain barrier and effectively deliver the missing enzyme, PPT1.

Dr. Hofmann's work has shown great promise over the first nine months; her team anticipates having material appropriate for the next stage of research--animal testing--near the close of the 12-month project period.

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