Humans of Rare Disease 

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Welcome to Humans of Rare Disease

This collaborative effort features people in the rare disease space: patients, advocates, researchers and healthcare professionals alike. We have encouraged them to share their stories and offer readers a window into their lives. Enjoy and share!

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ERIC

"Dr. Eric Shoubridge is Professor and Chair of the Department of Human Genetics at McGill. He obtained his B.Sc. and his M.Sc. from McGill University, and his Ph.D. from the University of British Columbia. He conducted his post-doctoral training in the Biochemistry Department of Oxford University and joined the faculty at the MNI in 1985. He was elected to the Royal Society of Canada in 2004. Research in his laboratory focuses on the molecular genetics of mitochondrial disease. His laboratory d...

Researcher

ADRIAN

"Adrian (B.A.&Sc., B.C.L./LL.B.) is a lawyer (Ontario) and Academic Associate at the Centre of Genomics and Policy at McGill. He manages the Regulatory and Ethics Work Stream of the Global Alliance for Genomics and Health – a consortium that frames policy and establishes technical standards to enable the sharing of genomic and health related data – where he develops guidance and tools to help researchers manage consent, privacy and security, and data access oversight. Adrian’s legal research foc...

Researcher

JOSEPH

"Joseph Galli is a Director of the Loeys-Dietz Syndrome Foundation of Canada (LDSF Canada) which he co-founded in 2011, following his wife’s and children’s diagnosis. LDSF Canada is implementing a multi-year strategic plan to raise awareness, drive research and provide support for patients and their families affected by LDS on a global basis. In addition, Joseph is evaluating the use of medical cannabis to help LDS patients with pain, inflammation and related issues."

Advocate

NATALIE

"My name is Natalie Cinman, I'm from Montreal, and I advocate on behalf of patients with Osteogenesis Imperfecta (OI), also known as brittle bone disease. I love all things food/drink, cooking, spending time with loved ones and entertaining at our house. Having OI does not prevent me from living my life to the fullest. However, I do face daily challenges when it comes to accessibility. However, this does not stop me! I just plan ahead and do my research before any time of travel. I realize that ...

Osteogenesis Imperfecta

KINSLEE

"After many unnecessary injections and infusions, genetic testing revealed that she was misdiagnosed with juvenile arthritis. Learning of Kinslee's CACP syndrome both prompted the pursuit of surgery for her fingers and allowed stopping of arthritis medications, greatly improving her quality of life. Though happy and playful, Kinslee does complain of joint stiffness/pain and fatigues easily. An estimated 1 in 1-2 million have CACP, likely underestimated because of frequent juvenile arthritis misd...

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

JOHN

"My name is John, and I have an Inborn Error of Metabolism that makes it difficult to participate in this fascinating world.  The "Failure to Thrive" that results from this molecularly undiagnosed condition leaves me prone to injury and with crippling chronic fatigue. I'm very passionate about film and videogame design, having earned a degree from UC Berkeley in Film and Media.  I'm also passionate about the science-fiction genre, as well as the medical field, specifically its advances in Precis...

Inborn Error of Metabolism

 

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© 2019 rareDIG McGill

Last Updated: September 5th, 2019

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