Multiple Hereditary Exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 children. MHE (also known as Hereditary Multiple Exostoses or Multiple Osteochondromas) is characterized by cartilaginous outgrowths called exostoses that develop adjacent to the growth plates of skeletal elements, impinge onto surrounding tissues and cause compression of nerves and tendons with consequent impairment of motion, chronic pain, skeletal deformities, and early onset osteoarthritis. They become malignant in about 2% of the patients. Current therapies are palliative, and patients struggle with pain and limited mobility and undergo multiple surgeries through life. MHE is caused by loss-of-function mutations in EXT1 and EXT2 that are responsible for heparan sulfate synthesis, and patients display varying degrees of heparan sulfate deficiency. Heparan sulfate chains regulate a significant number of critical physiologic processes, accounting for the multitude of symptoms and health problems from which MHE patients suffer throughout their life. Because of such complexity, understanding MHE and finding a cure require a multidisciplinary exchange of ideas in genetics, glycobiology, developmental biology, stem cell biology, cancer biology and orthopedics, and the establishment of collaborative efforts among these various disciplines. Hence, the key objective of the 5th International MHE Research Conference is to bring together physicians, physician-scientists and scientists who study and care for MHE patients and additional scientists who work in closely related fields, including skeletal development and growth, human genetic skeletal diseases, drug discovery, and mammalian and non- mammalian animal models of human diseases. The Conference will serve as a timely and vigorous forum for the exchange of the most recent data, will generate new ideas, approaches and hypotheses about the pathogenesis of MHE, and will promote further interactions amongst researchers in different fields. The Conference will be held May 19-22, 2016 at St. Mary's Medical Center and the Paley Advanced Limb Lengthening Institute in West Palm Beach and will consist of 6 sessions beginning Thursday evening May 19 and ending Sunday morning May 22, followed by a special session for patients and orthopedic specialists. The sessions cover bone and cartilage development, cancer biology, stem cell biology, heparan sulfate metabolism, and drug development. The workshop format for the conference includes 33 speakers and will be an open, publicized conference with up to 125 attendees. Each session will have 5-6 speakers who will present 20-minute talks followed by 10 minutes of discussion. The format, roster, and size of the meeting are designed to maximize interactions among participants in an informal setting. Because of the encompassing roles of heparan sulfate in human physiology, the Conference will have broad and far-reaching impact and relevance for both basic research and translational and clinical medicine.
The objective of the 5th International MHE Research Conference is to bring together physicians, physician- scientists and scientists, who study and care for MHE patients, and scientists who work in closely related fields, including skeletal development and growth, human genetic skeletal diseases, mammalian and non- mammalian animal models of human diseases, and drug discovery. The Conference will serve as a timely and vigorous forum for the exchange of the most recent data, will generate new ideas, approaches and hypotheses about the pathogenesis and potential treatment of MHE. The Conference will be held May 19-22, 2016 at St. Mary's Medical Center and the Paley Advanced Limb Lengthening Institute in West Palm Beach.
| Phan, Anne Q; Pacifici, Maurizio; Esko, Jeffrey D (2018) Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference. Connect Tissue Res 59:85-98 |
