An Attendee’s Perspective
By Lindsay Parsons
Together with LDSF Canada and the Genetic Aortic Disorders Association Canada (GADA), the Heritable Aortic Disorders collaborative brought a two day symposium to Toronto that can be described as nothing short of amazing! The two fully packed days were dedicated to educating and connecting healthcare professionals, patients and family members. Although this symposium was dedicated to all aortic disorders, LDS was at the forefront of most discussions.
Day 1, November 30, 2018
The first day brought Physicians and Scientists together to hear presentations on genetics, counselling, risk assessment, medical management, and surgery. These presentations beautifully summarized the current research in these fields, but it was what happened after each presentation that was even more incredible. The floor was opened up to comments and questions from attendees. Many times, lines were formed at the two microphones placed in the room. Attendees brought forward both general questions and specific cases. Not only did the panel and presenter weigh in, but so did many other healthcare professionals in attendance. Experiences, opinions and perspectives were openly shared. Physicians shared what they are doing in their clinics across...read more
Hot off the press! Check out the April 2018 Edition of Connections Newsletterread more
Hot off the press! Check out the March 2018 Edition of Connections Newsletterread more
Check out a recap of McGill Rare Disease Day by the McGill Tribune. Congratulations and well done to all the organizers, participants and speakers!
Hot off the press! Check out the February 2018 Edition of Connections Newsletterread more
Read more about what a McGill medical student group is doing to shed light on lesser-known diseases that together affect up to 1 in 12 Canadians.
RareDIG’s inaugural Rare Disease Day was held in the Martin Amphitheater of McIntyre Medical Building at McGill University on February 28. Below is a photo of those in attendance.
Andrei Aldea, Jessie Kulaga-Yoskovitz, Cyril Boulila, Sean Munoz, Johane Gauthier Galli, Joseph Galli, Noemie Villeneuve-Cloutier, Nikola Wilk
On September 1st, the Montreal Heart Institute unveiled the Cardiovascular Genetics Centre - a new clinic tasked with detecting heart issues that are often left undiscovered until they become problematic.
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...read more