Hal Dietz, MD

Johns Hopkins Hospital

Nominated by: Renee Hutchings of the Ehlers-Danlos community

Dr. Hal Dietz at Johns Hopkins has spent his career researching connective tissue disorders that affect the vascular system. His research on Marfan syndrome, Loeys Dietz syndrome and vascular Ehlers-Danlos syndrome has altered the understanding of the pathology of these disorders. As my family is affected by vascular Ehlers-Danlos syndrome, that is the area of research for which I am most thankful.

Ehlers-Danlos syndrome of the vascular type is a disease that fits well into the rare disease category. It is a disease without cure, treatment, or even successful surgical management, yet the fragility of the vascular system due to lack of proper amounts of collagen make it deadly.

Dr. Dietz has been instrumental in the progression of treatments for Marfan syndrome, starting with the monitoring and surgical management of the aorta to the monumental discovery that the pathology of the disease is not just the involvement of mutated fibrillin genes but also the involvement of a secondary cause increased signaling of a peptide known as transforming growth factor-beta. This discovery allowed for the start of a treatment clinical trial for Marfan syndrome investigating successful use of Losartan to help control aorta growth and secondary Marfan' characteristics. Luckily, Dr. Dietz's research did not stop there. He discovered that a subpopulation of patients who were seeing overlapping symptoms of Marfan and vascular Ehlers-Danlos syndrome actually represented a new syndrome. This is now known as Loeys-Dietz syndrome.

Thanksfully, due to his dedication to helping people, Dr. Dietz is continuing his work with vascular Ehlers-Danlos syndrome. He was one of the authors of an abstract presented at the American Society of Human Genetics meeting in October 2008 that shows promise for the first treatment option being investigated for vascular Ehlers-Danlos syndrome.