On Saturday 7th March Lesley, Eve and Nick attended the 1st Annual Genetic Disorders Leadership Symposium in London. The goal of the symposium was to bring together leaders of UK based genetic disorder charities and other patient advocates to learn from experts in the field, network, and share best practices.

The Hosts

The event was presented by Genetic Disorders UK in collaboration with Global Genes. Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders. Global Genes is a leader in rare disease patient advocacy working primarily in the USA.

The venue for the event was the Amba Hotel; an elegant grade II listed Victorian railway hotel dominating the front of Charing Cross Station. Vaulted corridors, a large stairwell with wrought iron detailing, and marble columned ballroom certainly offered a refined setting for this inaugural event.

Dinner with Warwick Davis

The night before the symposium there was a dinner and drinks reception at the hotel, which Lesley was lucky enough to attend. Actor, comedian and television presenter, Warwick Davis, was the keynote speaker at the dinner. The evening was a great opportunity to network with other people working in the rare disease field with similar goals and aspirations. The depth of knowledge and experience of those attending the event was staggering. We were able to ask questions of other rare disease leaders, receive feedback on work we are doing and discuss ideas.


The evening was all the more entertaining with the addition of musical chairs but without the music! After each course, delegates were asked to pick up their crockery and move to another place setting next to someone new. After a little initial confusion and hilarity, it was certainly a successful way to encourage interaction amongst the group.

Warwick Davis’s after dinner talk was both funny and inspirational and, in his words, “For many people with genetic conditions, what you see is only the tip of the iceberg.”

The Symposium

Saturday had a packed and varied agenda. Starting at 08.30 and finishing at 17.15, the day was long and mentally tiring, but at the same time the line-up of eminent speakers made it a valuable and inspirational day.

Caroline Harding CEO of Generic Disorders UK, and Nicole Boice CEO of Global Genes opened the symposium, explaining how their work is funded by money raised on Jeans for Genes Day. They also outlined plans to build a global network of charities to support and empower people affected by genetic disorders.

The morning session opened with presentations on the 100,000 Genomes Project, and what it can offer to the NHS in terms of research into genetic disorders. It also covered the recent developments in specialised commissioning, and how this will have an impact on people with genetic disorders.

The morning continued with presentations from a number of charities, talking about their experiences of creating healthcare guidelines. We then heard how education, health and care plans, now six months on from their implementation, have affected children with rare genetic disorders, and the issues these families face in trying to access the right support for their children in school.

Robbie Spence from Disability Rights UK, who spoke at our first Patient Workshop in Peterborough, gave an overview of the benefits available to people affected by a genetic disorder, and recent changes to the welfare system.

The morning session closed with four short presentations from organisations who offer support to genetic disorder charities. These included an organisation offering a partner research programme, to a start-up gene advisor, an online support community and drug repositioning advice.

The Afternoon


Lunch provided another opportunity to network and share experiences with other charity members as well enjoying the exceptional cuisine laid on by the hotel. We were surprised to bump in to Basil Faulty and Manuel in the hotel corridor during the lunch break. Apparently, ‘Faulty Towers the Dining Experience’ is a resident show at the hotel. Fortunately for us, we received impeccable service, and not the shambolic service often experienced at the Faulty Towers Hotel of the 70’s.

The afternoon continued with a look at finding new genetic diagnoses, creating patient registries and developing clinical research. The presentation by Dr William van’t Hoff was particularly powerful and inspirational. Three members of the Young Persons Advisory Group at Great Ormond Street talked about their own experiences and involvement in research, ensuring young people are actively engaged in the process of research.

The final session of the day included presentations on the achievements of gene therapy to date. With the publication of The UK Rare Disease Strategy in 2013, we were given an update on recent progress and what we should hope to see in the future. Three more charities talked about the big difference their charities had made, including our own CEO, Nick, who talked about the 5 steps he took to scale up the work of the AKU Society to have a greater impact for our patients.

The wealth of knowledge and expertise in the room made the day a valuable and informative experience. We hope this will be the start of many more symposiums of its kind in the UK.

All the presentations from the day are available to view and listen to on the Genetic Disorders UK website.