Ian Stedman

“Ian Stedman is an Ontario father who was diagnosed at age 32 with a rare genetic disorder called Muckle-Wells Syndrome. He travelled the long road that many patients with rare disorders travel and understands the struggles of the journey. At the time of his diagnosis, Ian was working as a lawyer in the area of public sector ethics and accountability. His advocacy work started to become all-consuming, so he made the decision to return to graduate school in order to transition his career more towards the health sector. Ian is now completing his PhD in law with a hope to be able to do work that focuses more directly on things that matter most to people living with rare and chronic conditions. Ian’s journey has led to volunteer as a legal member on the research ethics board at Toronto’s Hospital for Sick Children (SickKids) and he is also completing a Fellowship in Artificial Intelligence Law and Ethics at SickKids’ Centre for Computational Medicine."

Patient

Dr. Google and the Standard of Care

Dr. Brett Thombs

"Dr. Thombs completed his Ph.D. in clinical psychology at Fordham University in 2004, during which he did his clinical internship training at Weill Cornell Medical College in New York. He was a postdoctoral fellow and instructor at the Johns Hopkins University School of Medicine before coming to McGill in 2006. Dr. Thombs first engaged in rare disease research with the Canadian Scleroderma Research Group, which he joined when he came to McGill due to his experience with burn patients who face many similar challenges. Dr. Thombs is Chair of the Canadian Task Force on Preventive Health Care, Director of the Scleroderma Patient-centered Intervention Network (SPIN) and Director of the DEPRESsion Screening Data (DEPRESSD) Project. Dr. Thombs has received several awards throughout his successful career, and was the lead author of an international team that published an article on depression screening in cardiovascular care settings, which was a finalist for the 2009 BMJ Group Research Paper of the Year Award. In 2014, he was one of two recipients of the inaugural version of the McGill Principal’s Prize for Outstanding Emerging Researchers, which is awarded to McGill’s top investigators within 10 years of their highest degree from any of its 13 faculties and schools. In 2017, Dr. Thombs was named a Fellow of the Canadian Academy of Health Sciences."

Researcher

The Scleroderma Patient-Centered Intervention Network (SPIN)

Dr. Mousumi Bose

"Dr. Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with Zellweger spectrum disorder (ZSD), a rare, life-limiting peroxisome disorder. As a result of her experience, Dr. Bose re-focused her career goals to study rare disease. With the support of the Global Foundation for Peroxisomal Disorders, a ZSD advocacy group, Dr. Bose contributed to the first published treatment guidelines for ZSD. Currently, she holds a faculty position in the Department of Nutrition and Food Studies at Montclair State University, NJ, studying quality of life in rare disease families. Dr. Bose is passionate about learning what is important to rare disease families and using that information to help improve their lives."

Advocate

Understanding Rare Disease: Learning Through Listening

Dr. John Mitchell

"Dr. John Mitchell completed medical school at the University of British Columbia and his pediatric and endocrine fellowship at McGill University. He went on to complete a research fellowship in metabolic disease in Sydney Australia. He is currently the director of pediatric endocrinology at the Montreal Children’s Hospital. In addition to his pediatric endocrinology practice, he practices as a biochemical geneticist where he follows both adult and pediatric patients with metabolic disorders. He has been extensively involved in development of national and international clinical practice guidelines for phenylketonuria, Morquio A, Maroteaux-Lamy and Hunter syndrome. He is involved in cutting edge therapies for orphan diseases including chaperone therapies, enzyme replacement therapies and gene therapies. He has an active research portfolio with a special interest in biomarkers and mechanism of disease."

Clinician

Treatment in Lysosomal Storage Diseases: A Shift in Paradigm?

Dr. Nada Jabado

"Dr. Nada Jabado is a Professor of Pediatrics at McGill University and pediatric neuro-oncologist at the Montreal Children’s Hospital. She also obtained a PhD in Immunology in Paris, France, followed by a postdoctoral fellowship in biochemistry at McGill. She began her career as an independent investigator at McGill in 2003, pioneering a research program in pediatric brain tumors which is now unparalleled. Her group uncovered that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. More importantly, they identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1). Dr. Jabado's ground-breaking work has created a paradigm shift in cancer with the identification of histone mutations in human disease which has revolutionized this field, as the epigenome was a previously unsuspected hallmark of oncogenesis, thus linking development and what we now know are epigenetic-driven cancers. She has been inducted as a Fellow to the Royal Society of Canada, a member of the CIHR Governing Council, a member of the Canadian Academy of Health Sciences and was recently awarded the Israel Cancer Research Fund Award for Women of Action."

Researcher

“Oncohistones“ in Cancer: How to Turn the Cell’s Symphony Into Non-Harmonic Rap

I liked the variety of speaker backgrounds! And the pre talk snacks :)

I really enjoyed the talking and mingling and getting to interact with the speakers (as well as the food!) before the talks began.

I liked the patient and caregiver's personal stories; but also researcher's stories as well.

The range in expertise and experiences - they complimented each other nicely

Awesome variety of speakers, food was amazing, the whole atmosphere was really cool.