The Pamela and David Ott Center of Excellence in Heritable Disorders of Connective Tissue and Ehlers-Danlos Syndrome

Heritable Connective Tissue Disorder Research Celebration 2 (320x240)
From left: Dr. Brendan Lee, the Ott Family, the Herndon Family and trustees of the John M. O'Quinn Foundation.

With the support of the Pamela and David Ott Fund and the John M. O'Quinn Foundation, The Pamela and David Ott Center of Excellence in Heritable Disorders of Connective Tissue and Ehlers-Danlos Syndrome was established at Baylor College of Medicine to pursue cutting-edge research in the field of heritable connective tissue disorders with focus on Ehlers-Danlos Syndrome.

The center, led by Dr. Brendan Lee, was built on the strong scientific and clinical foundations of the Department of Molecular and Human Genetics at Baylor College of Medicine and the Texas Medical Center. The strengths of the center are found in the advanced genetics research in the field of heritable disorders of connective tissues within the laboratory of Dr. Brendan Lee, the research infrastructure within the Rolanette and Berdon Lawrence Bone Disease Program of Texas and the broad expertise of the members of the Center for Skeletal Medicine and Biology.

Research Activities

Heritable Connective Tissue Disorder Research (320x240)
Dr. Keren Machol, right, presenting the model for classical Ehlers-Danlos syndrome to members of the Ott and Herndon families.

The research goal of the center is to understand the causes of Ehlers-Danlos syndrome (EDS) and to develop new treatments for the manifestations of this disease.

The research activities are currently focused on studying the mechanisms that result from type V collagen mutations in patients with Classical EDS and on identifying the mechanisms that cause Hypermobile EDS.

In both cases, center researchers are taking a multi-omic approach for studying animal models and patients’ cells to identify targets for treatment.

Clinical Care

Patient clinics, part of this multiple-institutional effort, provide up-to-date care for individuals with EDS.

Connective Tissue Disorders Clinic

The Baylor College of Medicine Connective Tissue Disorders Clinic, directed by Dr. Shweta Dhar, specializes in the diagnosis, treatment and management of patients with all types of EDS, including hypermobile EDS, as well as other heritable disorders of connective tissue.

Skeletal Dysplasia Clinic

Children with conditions that affect the bony skeleton are seen in the Texas Children’s Hospital Skeletal Dysplasia Clinic led by Dr. Brendan Lee.

Clinic for Metabolic and Genetic Disorders of Bone

Adults with conditions that affect the bony skeleton are seen in the Baylor College of Medicine Clinic for Metabolic and Genetic Disorders of Bone led by Dr. Sandesh Nagamani.

Types of Ehlers-Danlos Syndrome Under Study

Classical Ehlers-Danlos syndrome (cEDS)

Classical Ehlers-Danlos syndrome (previously known as EDS type I/II) is an inheritable connective tissue disorder that involves skin, tendons, ligaments, and, in some cases, also blood vessels. Most cases are caused by mutations in the genes encoding for the subunits composing type V collagen, an essential component of the extracellular matrix in many of the connective tissues in the body. Individuals with classical EDS usually present with hyperextensible skin and atrophic scars and hypermobile joints.

Hypermobile Ehlers-Danlos syndrome 

Hypermobile Ehlers-Danlos syndrome (also known as Ehlers-Danlos syndrome type III) is an inheritable connective tissue disorder involving mainly the joints with hypermobile joints and chronic musculoskeletal pain. Associated extra skeletal symptoms might involve multiple systems including autonomic dysfunction with postural orthostatic tachycardia syndrome (POTS), gastrointestinal problems, and more. The genetic cause for this condition is unknown and the biological processes driving the clinical symptoms in this syndrome are poorly understood. For these reasons, the diagnosis of this condition is based only on clinical evaluation at this time.