• 0 GenIDA, an online study for CS patient and families.

    • News
    • by Administrator
    • 04-09-2017

    GenIDA, an online study for CS patient and familiesThe GenIDA project is a cohort study for genetic diseases whereby clinical information is entered and updated by the family themselves. The aim is to collect medical data to help gaining better knowledge on the evolution of the disease over life. This is extremely useful in Cockayne syndrome research because of the low frequency of the disease and the geographical dispersion of the patients.Two online questionnaires allow providing and updating the relevant health information: a CS specific questionnaire (15 questions) and a main questionnaire (46 questions).  The data is kept anonymous and are stored on secured servers hosted in France. Anonymous summary of the data will be publicly available for families and for health care professionals. We hope that these novel and medically significant knowledge can be translated in improved healthcare and that this e-cohort will favour international clinical studies the more regular participants, the more informative will be the results. https://genida.unistra.fr/  

  • 0 Upcoming Events

    • Events
    • by Administrator
    • 13-07-2017

        18th - 20th August 2017 - 10th Annual family/scientific medical conference - available to all families who have a child/young person with Cockayne Syndrome/TTD/XRCC4 or a related disorder. Amy and Friends cover the cost of 2 nights accommodation, food, coffee, tea, cordial and all activities. If you would like any further information please don't hesitate to contact us.

  • 0 Our new Patron Jayne O'Gorman

    • News
    • by Administrator
    • 16-06-2017

    We would like to introduce you all to our new Patron Jayne O'Gorman. Jayne has undertaken many different projects for charities and has raised a phenomenal amount of money. Jayne is organising a ball on 7th July at Chester Grosvenor to help Amy and Friends and she is doing her best to make people aware of Cockayne Syndrome. Jayne is Managing Director of Azurecollection.com We're so happy to have Jayne on board.

  • 0 Ella's Sponsored Mount Snowdon Climb

    • News
    • by Administrator
    • 29-05-2016

      We also have wonderful volunteers running, zip-wiring, entering Tough Mudder and our very own Ella Barden who suffers from Cockayne Syndrome climbed Snowdon with family and friends.

  • 0 Annual Scientific / Family Conference 2015

    Our annual family/medical conference took part in September - this year we added a scientific conference and doctors/specialists attended from across the world to form a cohort team working together to further advance research.        

  • 0 Team Amy and Friends completed Tough Mudder

    • News
    • by Administrator
    • 19-09-2015

      Team Amy and Friends completed Tough Mudder - you guys are amazing!

  • 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2014

    Our 8th Annual Retreat took place 3rd - 5th October 2014

  • 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2013

    Our 7th Annual Conference

  • 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2012

    Our CS family gathered from all corners of the world for the Amy and Friends retreat/medical conference - The conference gave families a weekend together to share, learn and support each other. Medical specialists did talks on developments of their research into CS and families were able to get answers to many of their questions - Every one who attended had an incredible time, and the weekend was the best yet!!!

  • 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2011

    Our 5th annual retreat took place 1-3rd July 2011 at the St. David's Park Hotel near Chester. This was our biggest retreat so far and we were so pleased to see some many families and doctors attending. Much fun was had during go-kart racing for Dads and siblings, chocolate tasting for Mums, party night saw a Disney parade/dancing by Red Dance Academy/wonderful comedy and singing from Slapdash Duo and our trip out to Greenacres Farm featuring a tractor ride was brilliant! Our volunteers worked very hard making sure that everything ran smoothly and we would like to thank them and everyone who contributed to funding this event for giving us memories to last a lifetime.