Introducing Dr. Danielle Kerkovich,
Consultant to the BBDF |
The Beyond Batten Disease Foundation has engaged Dr. Danielle Kerkovich as a scientific consultant to conduct a comprehensive review and analysis of all the known research that has been conducted to date pertaining to juvenile Batten Disease.
The goal of Dr. Kerkovich's project is to help the Foundation identify where to invest its future research dollars to accelerate the pace of progress. Some of her findings also will help inform researchers who are new to the field about avenues that have already been explored.
Dr. Kerkovich is conducting numerous in-person interviews with researchers and has been scouring the scientific literature for studies related to Batten Disease. Importantly, Dr. Kerkovich is examining not only all of the known research related to Batten Disease, but also research that has not been previously reported. She will present her final recommendations to the Foundation's board later this year. Dr. Kerkovich received a Ph.D. and M.S. in Biomedical Sciences from Albert Einstein College of Medicine of Yeshiva University, with a focus on Developmental Neuroscience and Molecular Genetics. She has extensive experience working with other nonprofits and the Department of Veteran Affairs, particularly in the area of spinal cord injuries and central nervous system disorders. |
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Batten Disease: The Basics |
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As with many people, you probably never heard of Batten Disease before Christiane's diagnosis and the Foundation was formed. Here you will find answers to some common questions about the disease.
Q. What is Batten Disease?
A. Batten Disease is a progressive and fatal neurodegenerative disease that affects children. Its scientific name is Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). There are four main forms of Neuronal Ceroid Lipofuscinosis (NCL), originally classified by the age of onset: Infantile, Late Infantile, Juvenile and Adult. The juvenile variant is technically the only one called Batten Disease, but the name is often used to refer to the other forms of the disease as well.
Q. What causes neurodegeneration?
A. Children with JNCL have a build-up of 'ceroid' and 'lipofuscin' material in most of their cells but it is the neurons in the brain that are most affected. These cells get sick and die.
Q. How common is it?
A. Batten Disease is considered extremely rare, and affects 2-4 per 100,000 newborns.
Q. What are the symptoms of the disease?
A. The first symptom is vision loss, which typically occurs between the ages of five and seven, followed by seizures and speech and mobility problems. Thereafter, affected children experience a slow cognitive, psychological and physical decline until death in the second or third decade of life.
Q. How does a child get Batten Disease?
A. Batten Disease is a genetic disease -- specifically, it is "autosomal recessive." That means both the mother and father of an affected child must carry the same gene mutation. Their children then have a one in four chance of being born with the disease, a two in four chance of being a carrier of the gene mutation for the disease (i.e., they have no symptoms but can pass on the disease), and a one in four chance of being born free of the disease and the gene mutation.
Q. Is there any treatment or cure?
A. Sadly, no. There are, however, treatments for some of the symptoms of the disease. For example, children can be given anti-convulsants to help control their seizures.
At the Beyond Batten Disease Foundation, we are creating a carrier screening test for Batten Disease and hundreds of other devastating genetic diseases to let people know if they carry the gene mutations that cause any of them. We also are working hard to accelerate the pace of research toward finding a cure. |
