SGP participates in Glasgow Rare Disease Showcase

"Given the barriers patients face, we know that collaboration between stakeholders

is crucial for progress in the rare disease sector."

Dr Rick Thompson, CEO, Findacure

10th October 2018

Findacure Rare Disease Showcase in Glasgow

 

The Findacure Rare Disease Showcase series is a celebration of rare disease projects and activities around the UK. These showcases have been touring cities around the UK, and provide a platform for local patient groups, researchers, life science professionals and clinicians to share their experiences, progress and developments in the management of rare diseases.

Several members of the SGP team attended the Glasgow event to meet representatives of patient groups and hear from a wide range of presenters with expertise in this area. The main presentations included:

Dr Ewout Groen of the University of Edinburgh, who spoke about the latest research in Spinal muscular atrophy

Tracy Milne of the Alfie Milne Lymphangiomatosis Trust, who shared her journey as a parent of a child with a rare disease and explained why she set up the Trust.

Tom Watson of Bionical, who spoke about the latest work on pre-approval access to new drugs.

Morven-May MacCallum, who shared her struggle to get a diagnosis for Lyme Disease and why we still need greater awareness of the symptoms of this illness amongst medical practitioners.

Dr Martina Rodie, consultant Nenonatologist, who spoke about the work of the Office for Rare Conditions in Glasgow.

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SGP's Project Manager Dr Wendy Inglis Humphrey gave a Lightning Talk at the event, highlighting progress made to date with the Scottish collaboration with the 100,000 Genomes Project and why genomic research is so important for the rare disease community.

Genetic Alliance UK hosted a Q&A panel session on Rare Disease Policy in Scotland, hosted by its Scotland Manager Natalie Frankish, who is also a member of SGP's Genomics of Rare Disease Implementation Group and Ethics Advisory Group. Fiona Murphy (Director NSS NSD and member of the SGP Steering Group) gave the NHS Scotland perspective on the panel.

You can listen again to all the talks from the event through the Findacure blog here.

Wendy Inglis Humphrey (SGP Project Manager), Natalie Frankish (Genetic Alliance UK)and Fiona Murphy (NHS Scotland) all spoke at the event.

© 2019 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.