Genetic Alliance UK

01/10/2026

Join LifeArc and Beacon for a free one-day workshop ‘Better together: Patient group collaboration’ exploring collaboration between rare disease patient groups and research.

Patient groups can access wider research networks, shared knowledge, and a stronger collective voice by coming together. There are multiple challenges to research collaboration, especially when managing groups of different sizes, conditions, priorities and ways of working.

There has been direct feedback from the community that groups want to collaborate but may have reservations, concerns from past experiences, or a lack of knowledge of how to start or manage these collaborations. This workshop has been designed to address these concerns - you’ll hear from expert speakers with direct experience in this area and leave with practical tools and advice on where to start.

What to expect:

- A panel session with patient groups and researchers who have first-hand experience of research collaboration, discussing how it can drive progress, not just for individual conditions, but for the rare disease community as a whole.

- Real case studies from patient groups who've been involved in collaborations, sharing their learnings and successes, including a presentation from Toni Mathieson, Chair of the L*D Collaborative and speakers from Rett UK and Pit Hopkins UK.

- Interactive activities and peer discussion, giving you space to reflect on your own experiences and connect with other leaders in the room.

- A practical session on where to get started, led by expert facilitator Yasmin Glover from The Olive, covering how to find the right partner and put a basic collaboration agreement in place.

Date: 11 November, 10:00 – 16:30
Location: LifeArc Office, Lynton House, 7-12 Tavistock Square, London WC1H 9LT

Register for your complimentary ticket now: https://www.eventbrite.co.uk/e/workshop-better-together-patient-group-collaboration-tickets-1999476508060?aff=oddtdtcreator

30/09/2026

Could you spare a few minutes to help shape better genetic healthcare?

We’re supporting a Cardiff University Master’s student with a short online research study that could improve how outcomes from genetic healthcare are measured.

If you have a genetic condition, are at risk of a genetic condition, or are the parent or legal guardian of a child with a genetic condition or who is having genetic testing, we’d really appreciate your help.

Taking part involves answering the same six questions twice, two weeks apart. You won’t be required to do anything in between.

Find out more and take part: redcap.link/gos-survey

29/09/2026

28/09/2026

Join us on 5 November, 12:00-13:30, to hear key findings from Genomics, Healthcare and You, a nationwide engagement programme commissioned by Genomics England.

More than 300 people from across England shared their views on the future of genomics in adult healthcare, helping to inform the development of a new research study announced in the Government's 10 Year Health Plan, as well as Genomics England's wider strategy.

The webinar will explore what people told us about the opportunities, concerns and considerations for the future of genomics in healthcare.

Find out more and register: https://www.genomicsengland.co.uk/events/genomics-healthcare-and-you

28/09/2026

Welcome to our newest member, Essex Neurology Network

Essex Neurology Network is a growing network of people affected by neurological conditions, health professionals, representatives of support charities and the Essex community, and staff, students and researchers at the University of Essex.

By bringing together a wide range of professionals and the voluntary sector, they hope to share good practice and encourage best services, in order to support those who are affected by neurological conditions, including their families and carers, so they are enabled to live active and fulfilled lives.

You can visit their webpage for more information: https://www.essex.ac.uk/departments/health-and-social-care/research/neuro-developmental-and-acquired-disorders/essex-neurology-network

25/09/2026

Please show your support for a national plan for neurological conditions now. If you are able, please sign our open letter to the Secretary of State for Health and Social Care here: https://bit.ly/4w5hHAY Thank you. Anyone in the UK can sign and show their support.

25/09/2026

Welcome to our newest member, Caring Matters Now

Caring Matters Now is the only UK charity dedicated to supporting children and adults affected by Congenital Melanocytic Naevus (CMN). They fund pioneering research into effective treatments for CMN and raise awareness about the condition.

Caring Matters Now offers a specialised Support Pathway for all children and adults affected by CMN.

As their Research Team continues to make progress toward finding effective treatments for CMN, they invite medical professionals to register with Caring Matters Now. By doing so, you will receive their annual CMN research update and learn how to refer your patients to the support the organisation provides.

23/09/2026

September is Newborn Screening Awareness Month

Yesterday, Genetic Alliance UK CEO Nick shared our community's views on expanding newborn screening at a symposium to celebrate the 40th anniversary of the British Paediatric Surveillance Unit (BPSU) at the UCL Great Ormond Street Institute of Child Health. This was followed by a panel with Anne Mackie (UK National Screening Committee), David Bick (Genomics England), Mel Hill (UCL GOSH), Jungoo Rahi (UCL GOSH) and David Elliman (clinical advisor to the UK NSC).

Chaired by Rachel Knowles (UCL GOSH), the panel discussed the role of genomics in newborn screening and the Generation Study, the UK's progress in blood spot screening compared to other countries, and the UK NSC's proposal to introduce a multi-condition in-service evaluation for 10 new rare conditions (EquipoISE).

Nick also shared the three principles developed by our Future for Rare campaign's Diagnosis Working Group - ending on the point that we need to think about screening as part of a 'system' that both addresses an unmet need from our community, and helps create a connected, advanced rare condition health service that supports UK innovation.

Read more about:

EquipoISE on the UK NSC's blog: https://nationalscreening.blog.gov.uk/2026/01/08/introducing-equipoise-an-evaluation-of-adding-multiple-rare-conditions-to-the-newborn-blood-spot-screening-programme/

Our Future for Rare campaign: https://geneticalliance.org.uk/future-for-rare/

23/09/2026

Two weeks may have flown by, but the ideas shared at our Future for Rare Summit remain firmly in our minds.

This is video number two where we asked more attendees the important question:

"Tell us, in three words or less, what the future of rare conditions policy should be or look like?"

In this video, Rarely Ordinary Founder Sheela Upadhyaya, Unique CEO Sara Wynn, and Scleroderma & Raynaud's UK CEO Sue Farrington share their visions.

Three words can be powerful, but now they must lead to action. With the UK Rare Diseases Framework coming to an end soon, the recommendations and insights shared at the Summit strengthen our ability to advocate for meaningful change and help shape the future of rare conditions policy.

Thank you to everyone who contributed. Now is the time to turn these words into progress.

21/09/2026

To mark and support of the introduction, of the website of the Cerebellum Science Centre
www.texaschildrens.org/cerebellum-science-center
Get that and ask a
question you have about the cerebellum ?
We have the opportunity to get it answered by Dr. Roy Sillitoe of the Science Center.
Please, leave your questions, for Dr. Roy Sillitoe, in the comments or get in touch with us via our channels or contact us by email. mailto:[email protected]