Resources and Information
In need of some resources and information about Ataxia or other Rare diseases? We have you covered with all the latest podcasts, videos, websites and more. Click on any of the images to take you to the resources.
Health Care and Research Wales 2023 Review:
Health Care and Research Wales 2023 Report.
Minister for Health and Social Services, Eluned Morgan MS, praised the crucial role of good research in improving health and social care services and outcomes in Wales ahead of Health and Care Research Wales’ annual conference. The conference theme was “People make research”, with speakers and topics highlighting the vital part individuals and delivery teams have played in Wales’ research successes over the past year. The very best of these successes are documented in Health and Care Research Wales’ annual report, published Thursday 12 October and launched during the conference at Swansea Arena. Both the conference and the annual report also provided opportunities to look at how to capitalise on this momentum, enhance and safeguard the future of health and care research in Wales; from career development opportunities for research staff at all levels, to significant new funding commitments and calls for greater parity of funding across the UK. Over the last year, Health and Care Research Wales has continued to fund research centres, projects and individual awards including 29 new research awards amounting to investment of almost £4.5million. It also established the Health and Care Research Wales Faculty which aims to support research career development at every level, and built on the success of the COVID-19 Evidence Centre with the launch of the Health and Care Research Wales Evidence Centre, in which it has committed to invest more than £7 million over the next five years.
Podcasts:
The Disabled Dudes
Sean and Kyle are both affected by a rare disease called Friedreich's Ataxia (FA), affecting their balance and coordination, significantly limiting their physical abilities. This podcast is about setting sights beyond the challenges in life and dreaming big. You are guaranteed an emotional rollercoaster and practical thoughts that apply to many areas of life with this podcast.
The Genetics podcast
Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com
Rare Cast - Global Genes podcast
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
Ataxia, Did you know?
Curious, knowledgeable wife of an Ataxian. My mission is to share reputable Ataxia information in short, simple, digestible servings. I want the world to become acquainted with Ataxia and the way it robs someone of their balance, coordination, and ability to walk, talk, swallow, and see.
My Rare Disease
Welcome to 'My rare disease' podcast. This is a platform where I raise awareness of something that affects 1 in 15 people, rare disease. By chatting to patients, health professionals and advocates, we talk about all aspects of rare disease including relationships, mental health and much more. I cannot wait for you to hear some truly inspiring stories from some absolutely amazing people. From being diagnosed with a rare disease myself at 10 weeks old, it has given me the motivation to give others in the rare disease community an opportunity to share their thoughts and experiences
Rarely Heard podcast
Rarely Heard is a rare disease podcast series that exists to share the stories, experiences, knowledge, insights and voices of those living with some of the world's rarest diseases. These stories should not be Rarely Heard, but widely shared.
Signalise
The Dazzle4Rare event and Signalise podcast amplify the voices of rare disease and associated communities by sharing their stories, new, events, and more. Working together, we have strength in numbers, amplifying our critical messages. We feature guests and discuss relevant topics for rare disease patients, caregivers, and those in the URCIID community.
Being Rare
Being Rare is an online resource hub and community conversations platform. We'll have intimate and sometimes difficult conversations about living with rare disease, disability, medical complexities, and special health needs. Popular for our 1 minute episodes, Being Rare offers insight, perspective, and positive reinforcement. Hosted by Sarita Edwards, a world's top patient expert, award winning advocate, global speaker, and CEO
The G word
We launched The G Word in January 2021, with the aim of making genomics more accessible to all. Chris Wigley, our CEO, talks to guest speakers from across the spectrum, including researchers, patients, scientists, AI experts and healthcare professionals. The G Word is available to listen through all major podcast listening apps, such as iTunes, Spotify, Amazon Music and Stitcher.
Videos:
Real families - Living a full life with Ataxia
Ataxia effects co-ordination, balance and speech and has a deteriorating effect on the heart. With the average live expectancy of 35, this man with Ataxia is celebrating his 30th birthday. My Perfect Family invites us to see the lives of modern families living with various disabilities. We see the highs and lows of being full time carers as well as the eye opening experiences of people with disabilities.
Living with Ataxia
Inspirational video with young people talking about their lives with ataxia. Produced by Ataxia UK and supported by the Roald Dahl's Marvellous Children's Charity.
Living with Ataxia - Hacks
Occupational therapist, Elizabeth Foss, speaks with Charlotte Depew, an Ataxia Support Group Leader, on ways to make everyday living with Ataxia easier.
The Ataxian
In the uplifting award-winning film, The Ataxian, Kyle Bryant, a man living with the fatal progressive neuro-muscular disorder, Friedreich’s ataxia, and a team of friends attempt the most grueling bicycle race in the world, The Race Across America. .
Super highlights of Superhero Tri powered by Marvel. 2023
It’s big. It’s bold. It’s the UK’s one & only disability sports series for the Everyday Superhero! Our mission is simple: to create fun, full-throttle, mass-participation sports events where people with disabilities – AKA Everyday Superheroes – call the shots & don’t have to worry about cut-off times or equipment restrictions. For all our missions you can either fly solo or team up with family & friends to do as much or as little as you wish, with as much or as little support as you need. If you want flippers or floats in the water or need to use your powerchair, we make it possible. In fact, as far as we’re concerned anything goes! We had so much fun at Superhero Tri 2023 with 3,700 Superheroes & Sidekicks in attendance. Look how much fun we had! For Superhero Tri, there are three super distances to choose from & many super ways to take part in these super-fun & flexible tri challenges. You can fly solo & take on all three stages (a swim, cycle & push/run for any tri newbies out there), share the fun in a team relay, or Superheroes can recruit Sidekick teammates to tow, push & pull them around the entire course!
Developing your rare disease patient group from the bottom up.
In this webinar series, you'll explore how rare disease patient groups can attract and retain the right people to ensure the success and longevity of their patient organisation. Discover how to attract and manage volunteers, employ staff and begin succession planning.
Websites:
Health Care and Research Wales
Health and Care Research Wales is a networked organisation, supported by Welsh Government, which brings together a wide range of partners across the NHS in Wales, local authorities, universities, research institutions, third sector and others. We work in close partnership with other government agencies and research funders (both in Wales and across the UK); industry partners; patients; service users; public and other stakeholders. We work together to promote research into diseases, treatments, services and outcomes that can lead to discoveries and innovations which can improve and even save people’s lives. In April 2023, we launched an ambitious and wide-reaching three-year plan, Research matters: our plan for improving health and care research in Wales 2022 - 2025, will be delivered in collaboration with partners including R&D leaders in health boards and the wider NHS, social care, higher education institutions, industry and funders to drive improvements in health and social care research, support routes into research careers and to fund and organise research.
Ataxia UK
We are the leading national charity in the UK for people affected by any type of ataxia. We fund research into finding treatments and cures, and offer advice, information and support to people affected by the condition.
National Ataxia Foundation
Our Vision: A World Without Ataxia. Ensuring no one experiences Ataxia alone, until no one experiences Ataxia, period..
Ataxia Global Initiative
The Ataxia Global Initiative (AGI) is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias. AGI´s activities are based on the principles of openness, transparency, flexibility and fairness. Specifically, the AGI: Promotes sharing of data and biomaterials, Contributes to the definition of worldwide accepted common standards for clinical research and interventional trials, Provides information that is relevant to prepare and conduct clinical trials, Organises and hosts international meetings and conferences to update and educate the field on key issues, Provides services that support trial readiness, Offers training and education programmes, and Provides information about clinical research to people with ataxia and the public.
Euro Ataxia
Euro-ataxia is an international non-profit association whose member organisations work together to help people with progressive ataxia lead their best life. We do this by building a strong organisation that represents people with progressive ataxia throughout Europe. Our Objectives: To drive forward research and treatment of the ataxias, To encourage the free flow of information between members on the latest research, To foster and improve contacts between practitioners interested in the ataxias, and people with ataxia. To investigate social, political and cultural matters connected to the welfare of people with ataxia, and promote and improve the exchange of this information, To promote co-operation on an international level between national ataxia organisations, To raise awareness of ataxia among clinicians, scientists and society.
Wales Gene Park
Our events and support networks link those living with genetic conditions to advances in genetics and genomics research. We provide researchers and industry partners access to genomics expertise and technologies to advance genetic based research. Our specialist networks, conferences and CPD events for health genomics knowledge and improve the patient experience. Learn about research projects and how you can become involved in helping research. We run a packed calendar of events for patients, the public, schools, researchers and health professionals.
Global Genes
When you’re here, you’re part of a globally connected community committed to eliminating the challenges of rare disease. Global Genes is committed to providing information, resources and connections to all communities affected by rare diseases. Our RARE Concierge patient service guides are here to help you navigate the complicated world of rare and undiagnosed diseases. No matter where you are in the world, your journey, or what your unique need is, RARE Concierge can help you. Our team has decades of personal and professional experience in rare disease advocacy and support. As patients, caregivers, and advocates, we understand the challenges you and your family face. RARE Concierge can provide resources, education, and important connection free of charge.
Superhero Series
We believe everyone should have the chance to be active & experience the thrill of taking part in a large-scale sporting event, whether it’s joining the fun at a live event or uniting remotely with Superheroes far & wide to achieve your super mission from your home or neighbourhood. Founded by Paralympian Sophia Warner in 2016, Superhero Series was born out of a lack of sporting events for the Everyday Superhero. We aim to hold bold, fun & inclusive sporting challenges, while also creating a SUPER community for our Superheroes & Sidekicks. That’s why there are no cut-off times or equipment restrictions & you can choose from a multitude of super ways to complete your challenge; whatever suits your own unique superpowers best! In return for all your super work, you can be sure of some momentous sporting moments, mega medals & the chance to unite (virtually or in the flesh) with Sidekick friends & family & other awesome Superheroes from around the world. So unleash your inner superpower, sign up & save the day!
Beacon - for rare diseases.
Beacon (formerly known as Findacure) is a UK-based charity that is building a united rare disease community with patient groups at its heart. We envision a world in which no one faces their rare journey alone.
Our charity upskills rare disease patient groups through trainings, guided programmes, community projects and research initiatives. We help these groups maximise their impact and deliver change for the world’s often neglected rare disease patients.
Rare diseases affect between 3.5% (263 million) and 5.9% (446 million) of the global population. Sadly, this population struggles to receive a diagnosis, treatment or meet another with the same condition. Patient groups are a lifeline for those living with a rare disease. They provide emotional support and advice for day-to-day living. Patient groups are the impetus behind new care pathways and treatments.
We are here to help those groups be the best that they can be..
Rare Disease Genomics
Get a better understanding of how whole genome sequencing can deliver better patient care for those with rare diseases. We partner with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments – with patients and participants at the heart of it all.
Genetic Overgrowth PI3K Support
We are a registered charity 1176289 based in the UK for patients and the families & friends of patients with a Segmental overgrowth in the PIK gene, known as PROS: (PIK3CA Related Overgrowth Spectrum). PROS is an umbrella term used for a number of conditions, please click on our “learn more” button for more information on Segmental Overgrowth Syndromes.