Presentations 2015

Caroline Harding

Introduction to Genetic Disorders UK

Caroline talks about Genetic Disorders UK and how its work to empower families affected by genetic disorders and disorder-specific charities and support groups, is funded by the money raised by Genetic Disorders UK

Nicole Boice

Introduction to Global Genes

Nicole talks about Global Genes and how it aims to build a global connected network of charities and organisations, and provide tools and resources to empower families affected by genetic disorders.

Dr Clare Turnbull

The 100,000 genomes project

Clare talks about the 100,000 genomes project, the structure and organisation of this programme and the opportunities it offers to transform the NHS to advance both clinical diagnostics and research into genetic disorders.

John Murray

Specialised commissioning in the NHS

John reviews recent and prospective developments in specialised commissioning as they affect both small (under 500 affected individuals) and larger groups of genetic disorder patients.

Julie Benson

Rett UK healthcare guidelines

Julie talks about how Rett UK approached the creation of their National Best Practice Management and Care Guidelines developed in partnership with NHS professionals with special interest and expertise in Rett Syndrome.

Claire Hennessey

Max Appeal! healthcare guidelines

Claire talks about how Max Appeal! created a consensus document that provides a comprehensive and universally agreed lifelong care plan for people with 22q11DS within the framework of the NHS.

William Davis

AT Society healthcare guidelines

William talks about how the A-T Society plans to use their recently published clinical guidance to improve health care for children with A-T in the UK and abroad.

Eleanor Wright

Education, Health and Care Plans

Eleanor discusses her experience of the new regime after its first six months and the issues that those with children affected by rare genetic disorders may face in accessing the correct support for their child at school.

Angela Jackman

Education, Health and Care Plans

Angela discusses her experience of the new regime after its first six months and the issues that those with children affected by rare genetic disorders may face in accessing the correct support for their child at school.

Robbie Spence

Disability benefits

Robbie from Disability Rights UK talks about the latest changes to the range of benefits available for children and adults affected by a genetic disorder including Disability Living Allowance, Personal Independence Payment, universal credit and the bedroom tax.

Zillah Bingley


Zillah talks about how Sparks can offer a research partner programme to other children’s medical research charities.

Dr Jelena Aleksic


Jelena is a geneticist working in the field of rare diseases. She talks about her start-up GeneAdviser and how she is trying to speed up rare disease diagnostics using genetic testing.

John Stamler

Ben’s Friends

John speaks about how Ben’s Friends uses the power of the internet to create online support communities for people with rare genetic disorders.

Dr Tim Guilliams


Out of 8,000 rare genetic disorders, only 200 have a cure today. Tim talks about how his start-up, Healx, addresses this gap to identify novel therapeutic solutions for rare genetic disorders.

Dr Caroline Wright

New Sequencing Technologies

Caroline describes how new sequencing technologies are being used to find novel genetic diagnoses for UK families in the Deciphering Developmental Disorders (DDD)

Mark Larkin

Patient registries

Mark explains how data from registries can be gathered and used to further the quest for a cure, treatment or improve care of patients with genetic disorders. What important issues should charities or support groups be aware of when deciding to participate in or build their own registry?

Paul Lenihan

Patient Registries

Paul talks about how Action Duchenne has developed and used its highly respected patient registry in the search for a cure for Duchenne muscular dystrophy.

Dr William van’t Hoff

Clinical research

William discusses the importance of clinical research (including trials) in improving our knowledge of effective treatments and care for rare disorders, and illustrates his talk with experience of how to overcome the common concerns and pitfalls.

Prof Bobby Gaspar

Gene therapy

Bobby speaks about the successes and challenges of gene therapy to date and the potential of gene therapy to treat and cure a range of genetic disorders in the future.

Dr Nicolas Sireau

AKU Society

Nicholas explains how he scaled up the work of the AKU Society in order to make a bigger impact for patients.

Fiona Copeland

Ciliopathy Alliance

Fiona talks about the Ciliopathy Alliance and how the collaboration between patients, researchers and clinicians, for a variety of rare conditions caused by abnormal cilia, is improving the lives.

Liz Curtis

The Lily Foundation

Liz talks about how she gained a voice in Westminster and played a major role in proposing new legislation to help families affected by mitochondrial disease.

Stuart Pritchard

UK Rare Disease Strategy

The UK Rare Disease Strategy, published in 2013, identifies 51 commitments relating to healthcare and research relevant to patients and families with rare diseases in the UK. Stuart discusses how much progress have we seen and what should we expect to see happen next?