Set up in 2009 by a group of Parents all of which met through the Yahoo Group for CDKL5 Parents Current Board of Directors ◦ Katheryn Frame – President, Melissa Ralston – Secretary, Karen Utley – Treasurer, Kelly Barnes, Kristin Leopoldino, Kimberley Nothurft, Carol-Anne Partridge Scientific Advisory Board ◦ David Frame, PhD, University of Michigan ◦ Dr Sumit Parikh, MD, The Cleveland Clinic ◦ Dr Walter E Kauffman MD, John Hopkins/Kennedy Krieger
“To lead the way in finding a cure and treatments for CDKL5 disorders by funding global research efforts, and increasingawareness of CDKL5 disorders, while enhancing the quality of life for those affected by CDKL5 disorders, by providing information, programs, and services” How are we achieving this?
Committed band of Parents and families raising vast amounts of money collectively ◦ From small events to large events Pepsi Grant – for iPS Cells with remainder used to create video/media IFCR Shop – www.cdkl5.com Registration to become Partner, Active Partner attracting a $20 donation which attracts benefit, or corresponding partner
Induced Pluripotent Stem Cells (iPS) ◦ Fibroblasts derived from Skin Cells Taken 6 affected Boys with CDKL5 One girl with a specific CDKL5 mutation ◦ Pluripotent – Means the ability to grow into any cell in the body including Neurons ◦ The IFCR is currently working with Dr Alysson Muotri at the University of California in San Diego, who is having success with several linesSo where are we today?
Development of Knock-out Mouse Model - ◦ Knock-out Mouse, genetically created without the CDKL5 Gene ◦ Critical in studying disorders like CDKL5 ◦ Co-funded with International Rett Syndrome Foundation ◦ Funding – Dr Cornelius Gross and his fellow Dr Elena Amendola – Italy Currently FDA mandates that new drugs be tested on animal models with positive results before human trials are allowedSo where are we today?
Second Mouse Model ◦ Knock-in Mouse ◦ Specific Non-sense mutation (R59X) seen in at least 5 children with CDKL5 (including one boy) ◦ Will be used in conjunction with iPS lines created by 2 children with R59X mutation one boy and one girl ◦ Benefits – New drugs already being developed Ability to test to see affects on mice and potential therapeutic and developmental gains for our children ◦ Funding – Dr Joe Zhou from the University of PennsylvaniaSo where are we today?
An IFCR Part-Funded Initiative Little is known about the natural history and occurrence of the CDKL5 disorder A group of researchers in Australia in collaboration with the International Foundation for CDKL5 Research are planning on developing an International Register for the CDKL5 Disorder They hope that this register will allow the collection of better information on the CDKL5 disorder from families and their clinician across the world
If you are interested in participating you can complete a questionnaire through the International Rett Syndrome Phenotype Database (InterRett) or contact them on • Website: https://interrett.ichr.uwa.edu.au//?q=/rett/irsa/ • Email: CDKL5@ichr.uwa.edu.au • Phone: +61 419956946 A new questionnaire is being developed and will be available for completion in early 2012. There will also be follow-up questionnaires on a yearly basis and the potential for sharing video information.
Charitable Fund ◦ Operating within Rett UK ◦ An Alliance with Rett UK and the IFCR Aims ◦ To raise the profile and awareness of the condition in the UK and worldwide ◦ To reach out to families in the UK living with the diagnosis of CDKL5 ◦ To fundraise for research for the IFCR ◦ To collaborate with Rett UK and the IFCR to create a signposting support structure
http://uk.groups.yahoo.com/group/CDKL5The first parent support group set up by a UKmum in 2005. A closed group accessed by request orby invitation has around 160 global members todate. Including Professor Christodoulou who isinvolved in vital research into CDKL5 www.cdkl5.comThe birth of the International Foundation for CDKL5Research, started by US and Leita Boltwood, fromAustralia families brought together by the yahooparent support group
https://www.facebook.com/groups/CDKL5CDKL5 Parents Support Group https://www.facebook.com/groups/11327098209 0227/CDKL5 Siblings Support Group
Raising Awareness Fundraising Finding other affected families Allowing our children to flourish “………and so here we are, giving hope through research and support to families within the UK living with CDKL5”
For them….‘So…...keep facing the sun and theShadows of life will always be behind you’