Genomic Approach to Prevent a Painful Syndrome: Ehlers Danlos Hypermobility Type
PrincipaI Investigator: Derek Neilson, MD
Key Personnel: Lisa Martin, PhD, Elizabeth Schorry, MD, Tracy Ting, MD, MSc, RhMSUS, Kenneth Goldschneider, MD, FAAP
Loose joints are the most recognizable finding in Ehlers-Danlos Hypermobility Type, but it has become clear that patients with this condition suffer from joint dislocations, widespread pain, headaches, abdominal pain, and dizziness with standing. The problems they face can become long-term and patients with EDS-HT contribute to at least 50% of the chronic pain disorder, fibromyalgia. We found that the symptoms of EDS-HT begin in puberty and one of our goals is to intervene before the condition produces problems. Loose joints are common in the population, so in order for us to help recognize who is at risk for EDS-HT we seek to identify the genes that cause it. To do this, we will screen and closely confirm the findings in families from multiple clinics, which serve over 1,500 patients with this diagnosis per year.
Using a genetic mapping approach, we will identify areas of the genome in which the genetic cause of EDS-HT may be found and we will further evaluate these regions by sequencing all the known genes within them. We will also investigate specific proteins found in blood to uncover new insights into the mechanisms behind EDS-HT and also to find new markers that can be used for genetic study. In performing this research, we expect to discover genes and biologic processes that we can use to make better diagnoses earlier. Moreover, we intend to transform EDS-HT from an “incurable disorder” into a condition that can be medically treated. The commercial application of this grant is that by discovering such pathways, it may be possible to develop drugs or other interventions aimed at the root cause of the problem, thus providing more effective therapy.