FOR IMMEDIATE RELEASE
The Loeys-Dietz Syndrome Foundation Canada is proud to announce the 2022 recipients of our first LEAP Impact Award. Congratulations to Nairy Khodabakhshian, Dr. Pei-Yu Chen, Dr. Michelle Keir, and Dr. Gauri Karur!
Loeys-Dietz syndrome (LDS) is a rare genetic vascular disease that was recently identified in 2005, and consists of malformations in the connective tissue. Patients with LDS may present with varied pathological manifestations in the aorta of the heart, lungs, skeleton, eyes and intestines. To date, there is no therapy that can cure this disease.
About the LEAP Impact Award:
Through the LDS Emergence Acceleration Program (LEAP) Impact Award, the Foundation supports innovative and essential research on Loeys-Dietz syndrome (LDS) and related rare conditions. We believe that meaningful and sustainable support extends beyond financial backing. As such, our unique granting model provides awardees with seed funding of $25,000 US as well as leadership development coaching, networking opportunities, and access to our database of global resources. With LEAP, we aim to identify, fund, and support investigators in order to encourage them to take a leap into Loeys-Dietz syndrome research. The LEAP Impact Award will generate new LDS knowledge that can be applied to understanding other connective tissue and heritable aortic disorders, and will support LDS researchers as they progress to receiving larger grants and hence create greater impacts. Through research, we have the power to address important needs in the LDS community, and to eventually save and improve the lives of patients and families.
2022 LEAP Impact Award Recipients:
The 2022 LEAP Impact Award recipients are investigating an exciting variety of topics related to Loeys-Dietz syndrome, including the effects of exercise, the molecular biology of bone malformation, the psychological and socioeconomic impacts of illness, and the power of cardiac imaging. Their impactful and innovative projects address key gaps in knowledge and create opportunities for future research.
Nairy Khodabakhshian’s project, titled “Vascular and Ventricular Responses to Exercise in Pediatric Loeys-Dietz and Marfan Syndrome”, will follow up on previous work completed by her team. Nairy, Ph.D. student at the University of Toronto, along with her principal investigator’s team have shown that observing the heart and vasculature during exercise can reveal abnormalities that were not visible at rest. Now, they will observe the vascular and ventricular properties of pediatric LDS and Marfan syndrome participants at rest and during exercise. This study will provide new insights into how exercise impacts the cardiovascular system of children with Loeys-Dietz and Marfan syndrome.
Dr. Pei-Yu Chen and her co-investigator at the University of Yale are working on a project entitled “Molecular biology of bone malformation in Loeys-Dietz syndrome.” This team is using a mouse model to better define the sequence of events that leads to bone problems in Loeys-Dietz syndrome. They are examining cells that are important for making and repairing skeletal tissues. They are looking to answer the question, “Why do these cells fail to produce good quality bone, cartilage and connective tissue?”
The project of Dr. Michelle Keir is titled “Heritable Thoracic Aortic Disorders: Psychological and Socioeconomic Burden of Living with an Invisible Illness. A Pilot Study.” Dr. Keir, clinical assistant professor at the University of Calgary, will measure the psychological impact, and quantify the socioeconomic status of living with a Heritable Thoracic Aortic Disorder. The goal of this project is to, first, understand the experience of patients living with Heritable Thoracic Aortic Disorders and, second, provide recommendations to both health care teams and policy-makers to better serve this community.
Dr. Gauri Karur’s project is titled “Cardiac Magnetic Resonance Imaging Biomarkers of Myocardial Fibrosis in Loeys-Dietz Syndrome and Association with Mitral Valve Abnormalities: A Pilot Study”. Dr. Karur, assistant professor at the University of Toronto, and her team will use Cardiac Magnetic Resonance Imaging to evaluate heart muscle health in Loeys-Dietz Syndrome patients. Specifically, they will look for the extent of injury in patients with heart valve abnormalities. This work will lay the groundwork for larger studies to be conducted to help early diagnosis, facilitate optimal treatment and identify patients who are at a high risk for heart rhythm disturbances or other complications.
The recipients of our first LEAP Impact Award showcase the remarkable depth and breadth of research expertise in LDS as well as the commitment of our researchers. On behalf of the Foundation’s team and board members, we congratulate them on their dedication to advance our mission, not only through their leading-edge research, but also through their efforts to advocate for the unmet needs of our community. Thanks to these champions, research on Loeys-Dietz syndrome will give patients hope for a better care in the future and for a curative therapy one day.
About Loeys-Dietz Syndrome Foundation Canada:
The Loeys-Dietz Syndrome Foundation Canada is a national charitable organization dedicated to the promotion of research, awareness, education and support for those affected by Loeys-Dietz Syndrome (LDS). Thanks to the significant generosity of our donors and volunteers, the Foundation fosters its mission forward by strengthening and empowering the SLD community through the development of a support network for all those affected, by expanding the range of cutting-edge research on SLD, and by investing in innovation. Together, we will transform the future of Loeys-Dietz Syndrome to save and improve the lives of patients and their families.
If you are affected by Loeys-Dietz syndrome, you can contact us at 1 888 LDS-FCAN or visit loeysdietzcanada.org.
To contact the Loeys-Dietz Syndrome Foundation Canada:
Jida El Hajjar, Ph.D
1-514-471-0442 ext. 222
1-888-LDS-FCAN (toll free)
835 Avenue Selkirk
Pointe-Claire, QC H9R 3S2