The Bardet Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and mental retardation. Just as identifying the genes for early-onset, hereditary forms of macular degeneration and glaucoma may provide clues to the more common late-onset forms of these diseases, we are hopeful that the identification of a gene for Bardet Biedl Syndrome will provide important insight into the common forms of pathological human obesity.
Extra digits and obesity are two of the cardinal features of Bardet Biedl Syndrome.
In late 1993, we mapped the first gene for Bardet Biedl syndrome to the long arm of chromosome 16 by studying a large inbred family from Israel. In 1994, we mapped two other genes for this disorder to chromosomes 3, and 15 in additional Bedouin families from Israel.
We have also developed a new technique for gene mapping in inbred families that significantly reduces the time required to find the chromosomal location of a gene. We are currently applying this new method to a variety of different recessive diseases.
Highly polymorphic genetic markers are used to identify the chromosomal location of disease-causing genes.
