New Research Opportunity

Dear Loeys-Dietz community,

We are a group of researchers from the University of Michigan interested in fighting Loeys-Dietz syndrome (LDS). I have been operating on LDS patients with aortic aneurysms or dissections, but I believe the best way to treat this illness is with prevention. This is why we are pursuing research into LDS by using patients’ blood to generate induced pleuripotent stem cells to study the mechanisms of aortic aneurysm and dissection in LDS patients.

Research Focus: Our team is interested in studying the mechanisms of aneurysmal formation in LDS patients. LDS is associated with mutations of genes in the TGFb pathway; however, the precise mechanisms explaining how mutations in these genes cause aortic aneurysms and dissections are still unknown. Currently, there is no medical treatment to prevent aortic aneurysm and dissection in LDS patients. Our focus is to study the detailed mechanisms, and hopefully, develop new therapies to prevent aneurysms and dissections in LDS patients.

Patient population needed for the research: We would appreciate participation from LDS patient with known mutations in the TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, or SMAD4 genes, or any other mutations of the TGF-b pathway, as well as from their family members who do not have LDS  (as control for the study). Participation requires donation of 5 to 10 millilitres of blood.

Please contact Whitney Hornsby (whornsby@med.umich.edu) or Bo Yang (boya@med.umich.edu) if you are interested in obtaining more information about this study, or to register.  Your help is greatly appreciated!

Sincerely,

Bo Yang, MD, PhD
Assistant professor
Department of Cardiac Surgery
University of Michigan