Made by a PURA parent in the UK. Information only, not medical advice. Read our disclaimer.

PURA organisations & specialists

Where to start after a PURA diagnosis in the UK: the family foundation, the registry, and the clinicians who publicly work with PURA.

Read next: Your first appointments after a PURA diagnosis: what to bring and what to ask

Guide · last reviewed 1 November 2026 · information only, not medical advice

Start with the family community

PURA syndrome was first described in medical literature in October 2014. The PURA Syndrome Foundation is the global family organisation. It offers family support, regional ambassadors, sibling and grandparent outreach, and an annual conference. UK families are part of that community. The Foundation is currently looking for a UK ambassador.

Other groups include Jack's Tomorrow (research funding, USA), PURA Foundation Australia, PURA Syndrome Deutschland and Fundacja PURA Polska. In the UK, Unique publishes a family guide to PURA and 5q31.3 deletions.

The patient registry

The Foundation's PURA Syndrome Patient Registry opened in 2026. It is free and available in eight languages. It helps researchers understand how PURA affects people across a lifetime, and it gives you one place to keep and share your child's information with new professionals. See our studies tracker for how it fits with other research.

Clinicians with PURA experience

Because PURA is so rare, most local teams will be meeting it for the first time. That is normal. The Foundation keeps a clinician network, mostly in the USA with some in Europe. In the UK, the Southampton team led the first description of PURA syndrome. Dr David Hunt's NHS profile lists PURA syndrome among his clinical interests. NHS specialist appointments are usually arranged by referral from your child's own doctor.

A useful document to share with your child's team is the Foundation's clinician handout, Clinical Considerations for PURA, on its Resources page. Another is the GeneReviews chapter.

Sources

12 listings

✓ PURA-experienced

University of Southampton – PURA Global Network

The research group (led by Professor Diana Baralle) behind the first description of PURA syndrome in 2014 and the UK-sponsored PURA Syndrome Longitudinal Natural History Study.

University research group · Southampton, England · checked 2026-11-01
✓ PURA-experiencedOutside UK

NAPA Centre

Paediatric intensive therapy provider (Australia and USA) that publishes a PURA syndrome information page and took part in a therapy session at the 2021 PURA conference. Listed for information only.

Private therapy centre · International (Australia/USA) · checked 2026-11-01
✓ PURA-experiencedOutside UK

Rive du Lac (ApexaQLA Suisse)

Family-centred therapy centre in Zug, Switzerland, which states that more than ten children with PURA syndrome are part of its cohort. Presented at the 2026 PURA conference. Listed for information only – we have not assessed its methods or outcomes.

Private therapy centre · International (Switzerland) · checked 2026-11-01
PURA-specificOutside UK

Fundacja PURA Polska

Polish foundation supporting children and families with PURA syndrome; running a Polish natural history study.

Patient organisation · International (Poland) · checked 2026-11-01
PURA-specificOutside UK

Jack's Tomorrow

US non-profit focused on funding research towards a treatment for PURA syndrome, including gene therapy work with The Jackson Laboratory.

Patient organisation · International (USA) · checked 2026-11-01
PURA-specificOutside UK

PURA Foundation Australia

Australian charity supporting PURA families in Australia and New Zealand; runs the international DEER epilepsy study.

Patient organisation · International (Australia & NZ) · checked 2026-11-01
PURA-specificOutside UK

PURA Syndrome Deutschland e.V.

German-language family association supporting affected families, family meetings and research.

Patient organisation · International (Germany) · checked 2026-11-01
PURA-specificOutside UK

PURA Syndrome Foundation

The global family foundation for PURA syndrome: family support, ambassadors, sibling and grandparent outreach, the annual PURA conference and the global patient registry. Registered as a US 501(c)(3) and active with UK families.

Patient organisation · International (UK families supported) · checked 2026-11-01
PURA-specificOutside UK

PURA Syndrome Foundation Clinician Network

The Foundation's directory of clinicians with PURA experience (genetics, neurology, epilepsy, paediatrics), mostly in the USA with some in Europe, including Southampton.

Clinician directory · International · checked 2026-11-01
PURA-specificOutside UK

PURA Syndrome Patient Registry

Free global registry run by the PURA Syndrome Foundation with COMBINEDBrain and Matrix. Families enter information once and it helps build the natural history of PURA syndrome and prepare for future trials. Available in eight languages.

Research registry · International · checked 2026-11-01

Missing someone? Suggest a provider.

Questions families ask

Is there a UK PURA charity?

We have not found a separate UK-registered PURA charity. UK families are supported by the PURA Syndrome Foundation, a US 501(c)(3) with an international community, and by UK rare-disease charities such as Unique, Contact and SWAN UK.

What does the 'PURA-experienced' badge mean?

We only show it when a provider publicly states experience with PURA syndrome, and we link to that evidence. It is not an endorsement or a quality rating, and sponsors cannot buy it. See our editorial policy.

How many people have PURA syndrome?

Around 800–840 people had been diagnosed worldwide by 2026, according to the PURA community. Numbers keep rising as genetic testing becomes more available.

Articles

More practical guides for this topic are on the way. Get updates to hear when they're published.