Tuberous Sclerosis Big Day 2nd November 2019


The Tuberous Sclerosis Association’s (TSA) Big Day 2019 will take place on Saturday 2nd November at the Nottingham Belfry Hotel.

Big Day is an opportunity for everyone in the TSC community to come together – from people living with TSC and their loved ones to clinicians and academics – to share experiences, get to know each other and hear about all-things TSC. You can expect to:

  • Be in an environment where people understand the impact that TSC can have on lives, with significant time allowed for networking
  • Discuss a range of topics, all focused on TSC, from external experts based around the UK
  • Have the opportunity to meet and get to know individuals and families affected by TSC
  • Take part in different workshops and talks, all specially designed to help the TSC community understand and access support, services and care

For more information and booking details please visit:

www.tuberous-sclerosis.org/new-tsa-news/big-day-2019

2019 RaDaR meeting

On Monday 2nd September 2019 a joint patient and clinician event was held at in London to discuss current and future research around the RaDaR rare disease registry, as well as ways to boost patient engagement in research. 

The agenda, a report from the day and pdfs of the presentations can be found below.

RaDaR Meeting Agenda

RaDaR Meeting Report

Presentations

Current status of RaDaR – Melanie Dillon, RaDaR Operations Officer

Ethics and re-consent – Dr Kate Bramham, Rare Diseases Committee Deputy

ADPKD – Dr Regada El-Damanawi, Research Fellow 

NephroS/NURTuRE – Prof Moin Saleem, Paediatric Nephrologist, Bristol

PREDICT – Dr Kate Bramham Rare Diseases Committee Deputy Chair

ERKNet – Tess Harris, PKD Charity

NIHR BioResource – Dr Kathy Stirrups, Head of Sample Management

NCARDRS Mary Bythell, Head of Rare Disease Registration

NHS Digital – Jackie Shears, Associate Director, Data Acquisitions

Patient Council and information resources – Fiona Loud, Kidney Care Policy Director

Kidney Research UK support – Pete Storey, KRUK Rare Disease Programme Lead

Care coordination research opportunity

COordiNated Care Of Rare Diseases (CONCORD) is a research study which aims to investigate how services are currently coordinated for rare conditions and how they should be coordinated in the future.

The study is funded by the National Institute for Health Research and is being led by researchers at University College London, in collaboration with Genetic Alliance UK and others. They are currently looking for patients, carers and healthcare professionals to share their priorities and views about the coordination of care for rare conditions, via an online survey. The survey will take around 30 minutes to complete. The findings will be used to make recommendations with the aim of influencing policy.

The survey can be accessed at: http://bit.ly/concord-survey

Further information about the study can be found at:

www.geneticalliance.org.uk/our-work/healthcare-and-delivery/coordinated-care-of-rare-diseases-concord/

Further research opportunities

As well as taking part in the RaDaR Rare Disease Registry, we recommend that patients who are interested in research visit the NIHR’s new Be Part of Research website which allows you to search for studies by condition and/or location.

Studies that are being led or endorsed by Clinicians involved in RaDaR are advertised on the Patient Information pages for each condition.