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Scottish Parliamentary event highlights the

impact of genome sequencing

"Scotland’s involvement in the 100,000 Genomes Project has enormous value."

Dr Jayne Spink, Chief Executive, Genetic Alliance UK

20th February 2018

9th Annual Rare Disease day Scottish Parliamentary event


A Scottish Parliamentary Reception to highlight Rare Disease Day 2018, has heard about the potentially transformative impact of genome sequencing on the diagnosis of rare conditions, and the enormous value which will come from Scotland's contribution to the 100,000 Genomes Project through the Scottish Genomes Partnership (SGP).

Professor Zosia Miedzybrodzka (NHS Rare Diseases SGP Project Lead, University of Aberdeen) spoke at the event about the progress made with recruitment to the study. The event was also attended by Professor Tim Aitman (Director of CGEM, University of Edinburgh and SGP Principal Investigator) and Dr Wendy Inglis Humphrey (SGP Project Manager, University of Edinburgh).

9th Annual Rare Disease Day event, Scottish Parliament

Photo credit: Jacek Hubner 

9th Annual Rare Disease Day event, Scottish Parliament

Photo credit: Jacek Hubner 

This 9th annual Rare Disease day reception was hosted by Bob Doris MSP. Speakers celebrated the progress made in diagnosing and raising awareness of rare conditions, but also highlighted that further work is still required. Rare genetic conditions are individually rare, but there are between 6,000 and 8,000 such diseases affecting 1 in 17 people, which is around 7% of the people of Scotland.

Dr Jayne Spink, Chief Executive of Genetic Alliance UK highlighted progress made in Scotland implementing the UK Strategy for Rare Diseases. Scotland’s participation in the “potentially transformative” 100,000 Genomes Project was highlighted as having enormous value. She said this is part of a growing movement of positive change through a research strategy which places a premium on collaboration.

Rebecca Pender, parent of a child with a rare condition, touched everyone in the room when she spoke eloquently of the emotional and challenging journey she had experienced, while trying to convince medical professionals that there was something wrong with her child. She poignantly recalled the moment a new health visitor said “I believe you”, and called for more awareness of rare genetic conditions amongst health professionals.

Professor Zosia Miedzybrodzka, the Rare Diseases Project Lead for the Scottish Genomes Partnership, spoke about the significant progress that had been made in the last 12 months with Scottish participation in the 100,000 Genomes Project. She explained, “It is hoped that genome testing will bring a diagnosis much quicker, and to more people." But she emphasised that this work is currently a research study which will finish recruiting in mid 2018, and a plan is needed urgently to take genome tests into everyday NHS practice.

Zosia Miedzybrodzka, Scottish Genomes Partnership

Photo credit: Jacek Hubner

SGP's Professor Zosia Miedzybrodzka, of Aberdeen University and NHS Grampian, told guests at the event about the significant progress made with Scottish participation in the 100,000 Genomes Project, and expected diagnostic benefits.

The Minister for Mental Health, Maureen Watt MSP, emphasised that the Scottish Government is committed to improving the lives of individuals and families with rare conditions. She commented positively on the recent visit of the Health Secretary, Shona Robison, to the University of Edinburgh’s state-of-the-art sequencing facility, Edinburgh Genomics, which is based at the Roslin Institute.

Professor Faisal Ahmed, Project Lead - Office for Rare Conditions, spoke about the need to raise general awareness, increase participation in research, and provide more information for families and healthcare professionals. His team had organised 9 family information events over the last year, and there had been clear benefits from bringing patients with different conditions together.

Arlene Smith, Executive Officer of the Turner Syndrome Society, closed the presentations by talking about her journey following the diagnosis of her child, and highlighted the importance of having appropriate support (e.g. nurse specialists) in place to help patients and their families.

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