Rare Disease Day 2018

On February 28th 2018, rareDIG played host to over 100 students, researchers, physicians, patients and community members in honour of Rare Disease Day. Speakers discussed the many challenges faced by people with rare disease and the success stories that followed; misdiagnoses and diagnostic odysseys were met with empowerment and optimism. In recognizing a collective of individuals focused on rare disease, we took a large step forward in raising awareness among future health care professionals.

 

The rareDIG committee would like to thank the speakers, attendees and supporters who made our first Rare Disease Day event possible!

 

Meet the Speakers

 
  • Natalie Cinman

    I am an adult...now what?

    Natalie Cinman is an adult patient with osteogenesis imperfecta (OI). She shared her experiences receiving specialized care during her childhood, and the difficulties associated with transitioning to the adult healthcare system. Natalie discussed interprofessional models of care for patients with OI used in the USA and at the Shriner’s Hospital in Montreal. She highlighted the importance of requiring care beyond the bones now that she is an adult with what used to be classified as a childhood disease.

    Category

    Patient

  • Adrian Thorogood

    Digital Shortcuts for a Rare Disease Odyssey

    Adrian Thorogood is a lawyer and academic associate at the Centre of Genomics and Policy at McGill. Adrian gave a thought provoking talk about the logistical side of gathering, managing, and ultimately learning from big data sets, particularly whole genome sequencing. Adrian spoke about these ideas in the context of rare diseases, where it is increasing essential to be able to share data from around the world to generate adequate study sample size. Ethical and legal considerations around this use of big data centre on patient consent and confidentiality, and ultimately who will have access to an individual’s genomic data once it has been shared.

    Category

    Lawyer

  • Joseph and Johan (Gauthier) Galli

    You can make the difference!

    Joseph Galli and his wife Johane are the founders of Loeys-Dietz Foundation Canada. Johane first shared her experience of being diagnosed with Loeys-Dietz syndrome later in life. Within the same year, both of their sons were given the same diagnosis. Johane highlighted the importance of listening to patients carefully, even when their constellation of symptoms don’t at first make sense. Keeping an open mind and doing that extra bit of research are sometimes all healthcare professionals need to obtain the answers they are looking for. As a business man and advocate, Joseph went on to speak about how we can create funding opportunities for young researchers with great ideas, but who otherwise would not win over more experienced researchers. Joseph and his foundation are in the process of creating grant opportunities for young researchers with new insights into rare disease research.

    Category

    Advocate

  • Eric Shoubridge

    Rare Disease Research and the Proper Practice of Medicine

    Dr. Eric Shoubridge is Professor and Chair of the Department of Human Genetics at McGill. Dr. Shoubridge provided the audience with a intellectually stimulating, yet easy to follow talk; beginning with an introduction to rare disease and how it is characterized. He emphasized that the vast majority do not fall underneath a general umbrella, reiterating that only a handful have wide exposure which forces any dedicated resources to be sparingly allocated. Dr. Shoubridge was spoke about the reason behind studying rare disease, passionately quoting William Harvey in the process. He then spoke about his team and laboratory, which has developed animal models to investigate the transmission and segregation of mtDNA, pioneered functional cloning methods and continues to work on next generation sequencing methods in relation to mitochondrial disease. To conclude his talk, Dr. Shoubridge outlined recent developments that have accelerated rare disease research: whole genome sequencing, advances in mass spectrometry, transforming somatic cells into stem cells and gene editing technologies.

    Category

    Researcher

 

Media

Reviews

 

Very well done. I was impressed, informed and entertained! Congratulations to all the organizers and presenters.

The speakers were well chosen and represented all of the key facets of rare diseases of patient concerns, researchers, fundraisers and ethical and legal dimensions. The speakers were clearly very well prepared and rehearsed. It was a privilege to participate in this event.

The talks were all very informative and I definitely feel like I learnt a lot from each of the speakers. It was very powerful to have many of the talkers be people who are themselves afflicted with rare diseases and who could talk about their personal experience.

Awe inspiring to see the students interested in learning more about RD

It was an amazing event, please keep up the good work! Looking forward to next year's edition!

The diversity in stakeholders sharing their experiences with or working on rare diseases was much appreciated.

© 2020 rareDIG McGill

Last Updated: September 7th, 2020

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