UM RESEARCHERS TO DISCUSS STUDY INTO RARE, OFTEN FATAL, CLOTTING DISORDER
(front left) Andra James, MD, Roshni Kulkarni, MD, Marilyn Manco-Johnson, MD, Janice Lawson, MD, Natalie Alves, Letitia Talbott, Joann Vega (back left) Patrice Whitehead-Gay, Judith Pignac-Kobinger, Kristin Nunes, Thomas Ortel, MD, Lavra Carlson, Margaret Pericak-Vance, PhD, Danica Vance, Susan Hahn, Jeffery Vance, PhD, MD, Doruk Erkan, MD, Craig Kitchens, MD, Carissa Smith
MIAMI - Nearly 12 years after a rare blood clotting disorder took the life of their son, University of Miami Miller School of Medicine researchers, Margaret A. Pericak-Vance, Ph.D., and Jeffery M. Vance, M.D., Ph.D., are moving forward with a research study they hope eventually will prevent similar tragic deaths through more accurate diagnosis and treatment. Dr. Pericak-Vance, director of the University of Miami Miller School of Medicine's Hussman Institute for Human Genomics, and Dr. Vance, chair of the Dr. John T. Macdonald Foundation Department of Human Genetics at the Miller School, have invited an international group of researchers to gather on April 18-19 at the Eden Roc Hotel on Miami Beach to discuss their research into these rare blood-clotting disorders. Joining the physicians and scientists in attendance will be members of the extended Vance family. JJ Vance's aunts, uncles, and cousins will learn about the project and celebrate a vibrant life that ended too soon. The Vance's son, JJ, died in 1998 at the age of 14 from a disorder known as Thrombotic Storm. His parents are now bringing to bear their expertise in genetics and their high-profile research careers to understand the genetic factors that underlie an individual's susceptibility to Thrombotic Storm and other rare clotting disorders. For many years, they have been involved in projects that were looking into blood clotting disorders, but this conference represents a head-on approach to the family of disorders that claimed their son's life. "We're finally ready to tackle this head-on," Dr. Pericak-Vance said. Research is critical because, as in the case of the Vance's son, the condition is often lethal if not detected and treated quickly. Ultimately, they hope to find a cause, which will lead to earlier detection and better treatment. They also hope the conference will bring attention to the syndrome, which researchers believe is often underdiagnosed or misdiagnosed. "We are hoping to apply our successes in gene discoveries for disorders such as Alzheimer's, Parkinson's and autism to rare clotting disorders," Dr. Vance said. The study, initiated last year, examines the causes of thrombatic storm disorders, which include primary and secondary antiphospholipid antibody syndromes (APS), heparin-induced thrombocytopenia (HIT), thrombotic thrombocytopenic purpura (TTP), paroxysmal nocturnal hemoglobinuria (PNH), catastrophic antiphospholipid syndrome and antiphospholipid syndrome or APS. The goal is to characterize patients with thrombotic storm syndromes, to track and study what happens to these patients over time, to use detailed family history information to identify any potentially inherited patterns in the families of these patients, and to identify genetic factors that contribute to this syndrome. The Vances' research collaborator, Thomas L. Ortel, M.D., Ph.D., of Duke University Medical Center, will be presenting at the conference, which will be attended by more than 20 researchers from UM, the University of Florida, Cornell University, Duke University, Michigan State University and the Hospital for Sick Children in Toronto, Canada. Their specialties include genetics, hematology, rheumatology, oncology and maternal-fetal medicine. At the meeting, investigators will review accomplishments, share and evaluate new case data, and improve study design. In addition, they will discuss additional strategies to promote the study, raise awareness of thrombotic storm, and recruit subjects. The Thrombotic Storm conference and the research study are funded by a grant from the Hussman Foundation. WHAT IS THROMBOTIC STORM: Most patients who develop a blood clot in their vein have either a deep vein thrombosis, most commonly in their legs, or a blood clot in their lung. A small number of people who develop blood clots have much more serious, sometimes life-threatening, symptoms. In addition, one or more of these clots may also happen in unusual locations in the body. These patients may also be difficult to treat. This very aggressive and serious form of blood clotting has been referred to as thrombotic storm (TS). TS may be associated with an existing condition or situation that predisposes a person to blood clots such as cancer, infections, or pregnancy. It has also been seen in patients with antiphospholipid syndrome or APS. In this situation, the condition is called catastrophic antiphospholipid syndrome, or catastrophic APS. Thrombotic storm has been seen in patients of all ages. thromboticstorm.com ABOUT JJ VANCE FOUNDATION: The JJ Vance Foundation celebrates the life of a truly remarkable young man by pursuing his dreams: helping others, being a vital part of a strong family, and contributing to the world community. The foundation supports summer internships. The JJ Vance Memorial Summer Internship in Biological and Computational Sciences is awarded three rising seniors in good standing at a Miami-Dade area high school. www.jjvance.org ABOUT THE HIHG: The John P. Hussman Institute for Human Genomics (HIHG) was established at the University of Miami Miller School of Medicine in January 2007 to discover the genetic influences on human health and apply this knowledge to the practice of medicine through improved diagnostics, treatments, and medications, thus translating the unprecedented scientific advance of the "Human Genome Project" into information that can benefit patients directly. The Institute is committed to collaborative pan-institutional initiatives, ensuring that resources, skills, and ideas forthcoming from novel genetic and genomic approaches will be made available to the entire medical community. www.hihg.org |