MUHC Consortium for Rare Disease Research

“Throughout her youth, Shawnea visited all kinds of doctors and was confined in the hospital, unable to visit her family. As a grandfather, you don’t like to see your children or your grandchildren suffering. It was very hard on the family, because we were never able to find out the cause.”

Jim Hindley’s granddaughter Shawnea Roberts’ genetic illness has been bewildering doctors ever since she was born. The pain of her mysterious illness has affected the entire family. She then met genetic disease expert, Dr. Donald Vinh who is resolved to find the genetic reasons behind her illness. With gratitude, Jim, Shawnea and their family have made a commitment to raise $2.5 million for the creation of a Centre of Excellence for Genetic Research in Infection and Immunity at the MUHC. 🏥🔬❤️ Read about this grandfather’s grand plan: https://bit.ly/375LIub

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« Pendant toute sa jeunesse, Shawnea a consulté toutes sortes de médecins et a été confinée à l’hôpital, sans pouvoir côtoyer sa famille. En tant que grand-père, vous n’aimez pas voir vos enfants ou vos petits-enfants souffrir. Cela a été très difficile pour la famille, car nous n’avons jamais pu découvrir la cause. »

La petite-fille de Jim Hindley, Shawnea Roberts, est atteinte d’une maladie génétique qui surprend ses médecins depuis sa naissance. La souffrance liée à sa mystérieuse maladie a affecté toute sa famille… Jusqu’à ce qu’elle rencontre un expert en maladies génétiques, le Dr Donald Vinh, qui est déterminé à en trouver les origines génétiques. Pour exprimer leur gratitude, Jim, Shawnea et leur famille se sont engagés à recueillir 2,5 M$ pour la création d’un Centre d’excellence en recherche génétique sur les maladies infectieuses et immunitaires au CUSM. 🏥🔬❤️ Découvrez le grand projet de ce généreux grand-papa : https://bit.ly/3DSs6WD

Centre universitaire de santé McGill - McGill University Health Centre

Shawnea Roberts has been ill for most of her life. Countless doctors have been baffled. Then she met genetic and rare disease specialist, Dr. Donald Vinh who is committed to finding the genetic reasons for her illness. Shawnea and her family have launched the SDR Project to fundraise in support of Dr. Vinh’s research and to help others living with rare or genetic conditions lead healthier lives. Watch the CTV Montreal report here 📱➡️: https://bit.ly/3480zmt

Shawnea Roberts a été malade pendant la majeure partie de sa vie. Elle a surpris d’innombrables médecins. Puis elle a rencontré un spécialiste de la génétique et des maladies rares, le Dr Donald Vinh, qui s’est engagé à trouver les causes génétiques de sa maladie. Shawnea et sa famille ont lancé le Projet SDR pour collecter des fonds, afin de soutenir la recherche du Dr Vinh et aider davantage de gens atteints de maladies rares ou génétiques à vivre en meilleure santé. Regardez le reportage de CTV ici (en anglais) 📱➡️ : https://bit.ly/3480zmt

Research Institute of the McGill University Health Centre Centre universitaire de santé McGill - McGill University Health Centre

February 28 is "Rare Disease Day", a day where the MUHC and RI-MUHC celebrate the many who are working towards providing accurate diagnoses, shortening the diagnostic odyssey, translating discoveries into therapies and seeking cures for those families affected by rare diseases.

Under normal circumstances, the greater MUHC community convenes on this day, with patient advocacy groups and industry partners, to hear from clinicians and scientists about ongoing discoveries, and from patients to hear their testimonials.

Unfortunately, with an ongoing surge from the COVID-19 pandemic, in-person gatherings are a major concern for public health safety. As such, the MUHC Consortium for Rare Disease Research has taken the difficult decision to not hold our Rare Disease Day event on February 28 2022.

However, we will continue to recognize the MUHC Rare Disease Community by highlighting some of our clinicians, scientists, and patients.

We remain committed to uniting our expertise, our experience, and our voices, to advocate for all those affected by rare diseases.

Beyond basic research: Coming to grips with a rare disease experience - Research Institute of the McGill University Health Centre - RI-MUHC To honour Rare Disease Day on February 28, an RI-MUHC research trainee shares the perspective he gained as a patient

At the RI-MUHC, we care about . Dr Myriam Srour studies rare congenital brain malformations and Dr. Chantal Séguin works on osteonecrosis, a rare bone disease. Alexandre Grant is a research trainee who received a rare disease diagnosis at the age of 20. Read Alex’s story: https://rimuhc.ca


(En français : Institut de recherche du Centre universitaire de santé McGill )

Centre universitaire de santé McGill - McGill University Health Centre
McGill Faculty of Medicine and Health Sciences

rareDIG is excited to announce our 4th annual rare disease day! Scheduled Sunday, March 6th at 1pm EST. Please register below:

https://mcgill.zoom.us/meeting/register/tZwkcOisqzIoHdXk7Jx3nNklofHQ4fr1k4fV

For the first time this will be in collaboration with our rareDIG chapters from across North America and include speakers from across the continent as well! As usual, there will be a raffle with prizes for those who attend. We hope to see you there. More details can be found on our website.

TEDxMcGill talk by RI-MUHC Graduate Student Alexandre Grant reflecting on his diagnosis with GBS.

How I Found My Way in the Dark At one point or another, each person will face a seemingly insurmountable challenge. For Alexandre Grant, that moment came when he was diagnosed with Guillain-Barré syndrome, a rare condition which led him to become paralyzed. Here, he makes sense of his experience by sharing how to overcome and fi...

Dr. Geneviève Bernard of the RI-MUHC is partnering with The Yaya Foundation for 4H Leukodystrophy, and with Drs. Guangping Gao and Jun Xie of the University of Massachusetts Medical School to develop models and to study a potential gene therapy for 4H leukodystrophy. This rare, progressive, genetic neurological disorder primarily affects children. There is not yet a treatment or cure. https://bit.ly/39ym4Mn

Aujourd'hui, c'est la journée internationale des maladies rares. Nous voulons saluer les recherches du Dr Donald Vinh! À l’IR-CUSM, le Dr Donald Vinh est souvent surnommé Dr House, puisque lui et son équipe travaillent à élucider certains des mystères médicaux les plus complexes. On estime qu’il existe plus de 7 000 maladies rares dans le monde, touchant plus de 300 millions de personnes. Pour le Dr Vinh, aucune maladie n’est anodine. Merci Dr Vinh et tous les chercheurs dans le domaine des maladies rares!

Today is . We want to salute the research of Dr. Donald Vinh! He is often referred to as the Research Institute of the McGill University Health Centre's Dr. House. He and his team work to solve some of the most complex medical cases. It is estimated that there are more than 7,000 rare diseases on earth, affecting over 300 million people. For Dr. Vinh, no disease is insignificant. Thank you Dr. Vinh and all rare diseases researchers!