Genetic Alliance UK

18/06/2026

We have some great news, we have given you more time to complete the Concord2 survey! The new deadline is Monday 29 June 2026, so have your say now before it closes!

Are you 18 or over, with a rare or undiagnosed condition? Or are you the parent or carer of a patient with a rare or undiagnosed condition? Have your say in this survey exploring and evaluating different ways of coordinating care for people affected by rare conditions.

The results of this survey can support improvements in how care is coordinated for people affected by rare conditions. The survey captures how the care of people affected by rare conditions is coordinated, and the costs and benefits of this to patients and families - it is run by CONCORD2 (COordiNated Care Of Rare Diseases 2) .

To complete the survey, click on one of the links below:

You are 18 or over and with a rare or undiagnosed condition 👉
https://ow.ly/NPsz50Ze6OZ

If you are the parent or carer of a patient with a rare or undiagnosed condition 👉
https://ow.ly/poAn50Ze6OU

Clicking through to these links, you will firstly be taken to the website with more information about the survey. If on reading this information you decide you do want to take part, you will then be directed to complete the survey online. It takes most people around 30 minutes to complete this survey.

You do not have to take part in the survey if you prefer not to; taking part in this survey is voluntary. You will not be asked to give your name or contact details, and we will not tell anyone that you have taken part in the survey. All information collected during the survey will be kept strictly confidential.

If you have any queries, contact the CONCORD2 Study Team at [email protected]

17/06/2026

Are you interested in 'personalised' treatments called anti-sense oligonucleotides (ASOs), which can be developed for one or very few patients at a time?

If you'd like to help develop a handbook about this for parents and patients please sign up for an online focus group - no prior experience necessary (link below)

If there are more sign-ups than places available, people with a mix of backgrounds/experiences will be selected.

Date and time for the focus group:
- Tuesday 21 July
- 12:00 - 13:30
- This focus group is online

This work is run by a collaboration between the UK Platform for Nucleic Acid Therapies (UPNAT), the N=1 Collaborative, Unique and Genetic Alliance UK.

Sign up here: https://ow.ly/gPpk50Zcf8F

17/06/2026

Congratulations to Genetic Alliance UK's Director of Research, Dr Amy Hunter, who was a co-author of the prize-winning paper 'Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey' at the GertJan van Ommen Citation Awards.

We are so pleased that we were able to support this important work, ensuring voices from the UK were heard.

GertJan van Ommen Citation Awards. Papers with the highest number of citations in the first calendar year following publication of research papers cited in 2024 in the EJHG

1. Fatoumata Faye. EURORDIS-Rare Diseases Europe, France. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey EJHG 32-9, 10.1038/s41431-024-01604-z. 26 citations

2. German Demidov. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes EJHG 32-8, 10.1038/s41431-024-01637-4. 9 citations

3. Eva Vanbelleghem. Ghent University Hospital, Center for Medical Genetics, Belgium. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations EJHG 32-9, 10.1038/s41431-024-01664-1. 8 citations

16/06/2026

The Concord2 survey deadline is Friday 19 June 2026, so have your say now before it closes!

Are you 18 or over, with a rare or undiagnosed condition? Or are you the parent or carer of a patient with a rare or undiagnosed condition? Have your say in this survey exploring and evaluating different ways of coordinating care for people affected by rare conditions.

The results of this survey can support improvements in how care is coordinated for people affected by rare conditions. The survey captures how the care of people affected by rare conditions is coordinated, and the costs and benefits of this to patients and families - it is run by CONCORD2 (COordiNated Care Of Rare Diseases 2) .

To complete the survey, click on one of the links below:

You are 18 or over and with a rare or undiagnosed condition 👉 https://ow.ly/iEat50ZbO4q

If you are the parent or carer of a patient with a rare or undiagnosed condition 👉 https://ow.ly/AwJ250ZbO4v

Clicking through to these links, you will firstly be taken to the website with more information about the survey. If on reading this information you decide you do want to take part, you will then be directed to complete the survey online. It takes most people around 30 minutes to complete this survey.

You do not have to take part in the survey if you prefer not to; taking part in this survey is voluntary. You will not be asked to give your name or contact details, and we will not tell anyone that you have taken part in the survey. All information collected during the survey will be kept strictly confidential.

If you have any queries, contact the CONCORD2 Study Team at [email protected]

16/06/2026

Rare condition communities aren't defined by a single postcode. They are built on shared lived experience. We, like many of our members, are grateful to have been able to transform our support for people living with rare conditions with funding from the Reaching Communities programme, under its previous nation-wide terms.

We’ve written to the Chief Executive of The National Lottery Community Fund to express our profound concern over proposed changes to the Reaching Communities programme.

You can read our letter: https://ow.ly/cw5u50Zccgp

11/06/2026

The Concord2 survey deadline is Friday 19 June 2026, so have your say now before it closes!

Are you 18 or over, with a rare or undiagnosed condition? Or are you the parent or carer of a patient with a rare or undiagnosed condition? Have your say in this survey exploring and evaluating different ways of coordinating care for people affected by rare conditions.

The results of this survey can support improvements in how care is coordinated for people affected by rare conditions. The survey captures how the care of people affected by rare conditions is coordinated, and the costs and benefits of this to patients and families - it is run by CONCORD2 (COordiNated Care Of Rare Diseases 2) .

To complete the survey, click on one of the links below:

You are 18 or over and with a rare or undiagnosed condition 👉 https://ow.ly/u6OB50Z9OEj

If you are the parent or carer of a patient with a rare or undiagnosed condition 👉 https://ow.ly/HHIf50Z9OEl

Clicking through to these links, you will firstly be taken to the website with more information about the survey. If on reading this information you decide you do want to take part, you will then be directed to complete the survey online. It takes most people around 30 minutes to complete this survey.

You do not have to take part in the survey if you prefer not to; taking part in this survey is voluntary. You will not be asked to give your name or contact details, and we will not tell anyone that you have taken part in the survey. All information collected during the survey will be kept strictly confidential.

If you have any queries, contact the CONCORD2 Study Team at [email protected]

10/06/2026

Join SCIE/Government’s Young People Advisory Panel or Parent/Carer workshop, and complete survey - help them improve transitions from children’s to adults’ social care.

The Social Care Institute for Excellence (SCIE) is working with the Government (Department of Health and Social Care, Department for Education) on a project to improve young people’s experience of the transition from children to adult social care. They will be working with young people, carers and professionals over 12 months to co-produce some best practice principles on transitions and some training materials which will be used by social workers.

They are therefore urgently recruiting a group of young people who are either coming up to, currently going through or have recently gone through the transition to adult social care. They would be most grateful if you could contact them as soon as possible if you would like to be part of this exciting new project.

They are also urgently looking for parents, carers and family members who have lived experience of transitions to help shape their plans by joining the short online workshop as part of the series of workshops consulting with professionals and people with lived experience: Workshop 4: Parents, carers and others with lived experience of transitions: Friday 26 June 2026 at 10.00am-12.00pm.

Please contact ASAP at [email protected] for the Panel or workshop.

They are also running a short 10-minute survey exploring what support, information, and approaches are working well, and where things need to change. This is for parents, carers, family members, young people and professionals - your insights will help shape practical tools, training materials, and best practice guidance to improve transitions for young people and families.

Please take part in the survey: https://r1.dotdigital-pages.com/p/4O5-1R5T/scie-dhsc-transitions-survey?pfredir=1

SCIE would also be very grateful if you can help them spread the word by sharing this with your networks, so they can hear from as many people as possible.

work with young peopleyoung people who are going throughor preparing for this transitionadults with lived experienceparents, carers, and family members

10/06/2026

Welcome to our newest member, VWD Alliance.

VWD Alliance’s mission is to improve the lives of people affected by Von Willebrand Disease (VWD) by ensuring they have access to clear information, meaningful support, and equitable care. They work to raise awareness and strengthen understanding of VWD among healthcare professionals and the public, helping to reduce delays in diagnosis and improve treatment pathways.

Through collaboration with medical bodies, charities, and research organisations, the organisation champions progress in education, research, and policy that benefits the VWD community.

09/06/2026

Genetic Alliance UK’s Natalie and Dani were at the European Conference on Rare Diseases (ECRD) last week in Prague covering all things policy, public affairs and research.

ECRD invited them to speak on national policies for rare conditions, including what we should measure, screen for and how the UK is doing compared to our European counterparts - and where we could go further.

Natalie and Dani were thrilled to see so many people from Genetic Alliance UK member organisations and the wider community at the event and shared their contributions to the Poster exhibition and other sessions.

08/06/2026

Concord2 survey will close Friday 19 June 2026, so have your say now!

Are you 18 or over, with a rare or undiagnosed condition? Or are you the parent or carer of a patient with a rare or undiagnosed condition? Have your say in this survey exploring and evaluating different ways of coordinating care for people affected by rare conditions.

The results of this survey can support improvements in how care is coordinated for people affected by rare conditions. The survey captures how the care of people affected by rare conditions is coordinated, and the costs and benefits of this to patients and families - it is run by CONCORD2 (COordiNated Care Of Rare Diseases 2) .

To complete the survey, click on one of the links below:

You are 18 or over and with a rare or undiagnosed condition 👉 https://cambridge.eu.qualtrics.com/jfe/form/SV_09EGCdSmaBU4RTM

If you are the parent or carer of a patient with a rare or undiagnosed condition 👉 https://cambridge.eu.qualtrics.com/jfe/form/SV_d6akhFMox1Udh4i

Clicking through to these links, you will firstly be taken to the website with more information about the survey. If on reading this information you decide you do want to take part, you will then be directed to complete the survey online. It takes most people around 30 minutes to complete this survey.

You do not have to take part in the survey if you prefer not to; taking part in this survey is voluntary. You will not be asked to give your name or contact details, and we will not tell anyone that you have taken part in the survey. All information collected during the survey will be kept strictly confidential.

If you have any queries, contact the CONCORD2 Study Team at [email protected]