With a new $1 million gift, Baylor College of Medicine geneticist Dr. Brendan Lee hopes to broaden understanding of the mechanisms of Ehlers Danlos syndrome, an incurable, inherited connective tissue disorder in which the body does not make enough collagen, resulting in weakened tendons and ligaments and ultimately poor skin healing and hypermobile joints.

Given by Dr. And Mrs. David Ott, the gift will establish the Pamela and David Ott Fund for Heritable Disorders of Connective Tissue and Ehlers Danlos syndrome (EDS).

No cure

The severity of the disorder varies by individual from mild to life-threatening. There is no cure, but supportive treatment is offered.

"There have been great advances in the understanding of heritable disorders of connective tissues especially affecting bone, cartilage, and blood vessels," said Lee, the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics and a professor of genetics at BCM. "Through studying disorders that affect these organs like Osteogenesis Imperfecta, Achondroplasia and Marfan syndrome, much has been learned and new therapies developed."

Genetic disease of soft tissue

There is an enormous area of unmet need regarding genetic diseases of soft tissue and joints that affect tendons, ligaments and skin, said Lee, also an investigator of the Howard Hughes Medical Institute.

The new fund will form the foundation for research programs to understand the mechanism of these diseases and to treat weak tendons, ligaments and skin. This will help galvanize future efforts to translate basic findings to clinical practice in patients with joint hypermobility, delayed wound healing, scarring, and recurrent tendon or ligamentous injury.