Shining a Light on Genetic Disorders

On 18 June the public joined researchers, clinicians and patients at the MRC IGMM for ‘Shining a Light on Genetic Disorders’, part of this year’s MRC Festival of Medical Research: June 2019

With a focus on colorectal cancer and Aicardi-Goutières syndrome, the evening celebrated the power of partnerships in medical research through inspiring and informative presentations by clinical researchers and families affected by genetic conditions.

Opened by Professor Wendy Bickmore, Director of the MRC Human Genetics Unit, this MRC IGMM and MRC HGU event was compered by Hazel Lambert, Public Engagement with Research Manager at the College of Medicine & Veterinary Medicine.

Miss Farhat Din, Clinical Consultant and Research Scientist and one of her patients, alongside Senior Scientist Dr Susan Farrington, both from Cancer Research UK Edinburgh Centre, shared their personal perspectives about Bowel Cancer. As John Scott MSP was unable to present, he sent a video message about Lynch Syndrome, a rare a genetic bowel condition. Professor Yanick Crow, clinical geneticist along with the father of one of Yanick's patients shared their personal perspectives of Aicardi-Goutières syndrome (AGS).

The five presenters were then joined by Natalie Frankish from the Genetic Alliance UK and Carol Porteous, Patient and Public Involvement Advisor from the University’s Edinburgh Clinical Research Facility for a wide ranging discussion.

The 140 participants continued their conversations at the drinks and canapés reception in the Nucleus, where they engaged with researchers from the MRC HGU, CRUK Edinburgh Centre and CGEM that presented lay posters summarising their research on genetic disorders and other researchers from across the institute that encouraged our guests to play with a selection of our drop-in activities. These included looking at cheek cells under microscopes; extracting DNA from strawberries; connecting codes to cures; Mighty Mitochondria – the powerhouse of the cell and the Power of Partnerships puzzle.

On display throughout the Nucleus, the display of 17 lay posters described a sample of the genetic diseases investigated within our institute, including Aicardi-Goutières syndrome (AGS); Primary ciliary dyskinesia (PCD); Hutchinson-Gilford Progeria Syndrome (HGPS) and Cornelia de Lange Syndrome (CdLS). A variety of eye conditions and malformations were presented, including Aniridia, Microphthalmia, Keratoconus and Late-Onset Retinal Degeneration (L-ORD). Other illnesses where genetic predispositions are being investigated were Myalgic encephalomyelitis / chronic fatigue syndrome and Depression. A few of the many cancers studied here were ovarian cancer, skin cancer and colorectal (bowel) cancer. The NHS Colorectal Cancer Specialist Nursing Team from the Western General Hospital also presented a poster on their work. Finally, there were posters on ‘People Power - Scottish Population BioBanks’ and medicinal chemistry.

Congratulations on a superbly organised and executed event. It was a privilege to hear the patient stories and to gain insight from the clinicians/researchers. One of the PhD students running a drop-in activity, told me that she loves what she does in the lab each day and works hard, but having heard from the patients, she expressed a sense of greater purpose for her work and the importance of doing research that make a real difference for patients.

Too often public engagement feels like scientists just talking at people, but this event was an amazing two way dialogue between researchers and patients and their families. I think that we were all both humbled and inspired by the stories that we heard, and I think that the event was also so important in highlighting the impact of rare genetic disease.

On behalf of the family I would like to thank you for a great experience, and the invitation to share our story and the positive impact that your research has had on our family.

Shining a Light on Genetic Disorders

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