The Cri du Chat Research Foundation

Our organization is excited to announce that CDCRF's nomination to the University of Alabama at Birmingham, Center for Precision Animal Model (C-PAM) was chosen to receive support from a National Institutes of Health (NIH) grant which will support 5p- syndrome animal model development. Thank you C-PAM for your interest in 5p- syndrome and for partnering with CDCRF! On behalf of the organization, we are appreciate your collaboration & support! Learn more about C-PAM & why the development of animal models, as tools for research, is so crucial to the development of therapeutics for a genetic diseases here... "The UAB Center for Precision Animal Models (C-PAM) brings together scientists and physicians to bridge the gap between affected persons and the most accurate models for their specific genetic conditions. These models will help elucidate how these disorders affect the body and potentially help find novel treatments for them. Studying the effect of a genetic variant in a model makes it possible to confirm disease causation and link genotype to phenotype to support clinical diagnosis. Having a patient-specific variant in a model system also allows for the screening of therapeutics, which could lead to the discovery of targeted treatments for a person’s unique genetic condition." ...UAB C-PAM https://lnkd.in/ePpMKuUg #criduchat #universityofalabamaatbirmingham #precisionmedicine #GeneTherapy #antisenseoligonucleotides #drugrepurposing

Introducing the Glovers, a family affected by 5p- syndrome, committed to building a legacy for their child and the many incredible 5p- families yet to come! Thank you to Cole, Kayla, Macey and Maddie for sharing your family with us!! #buildingalegacy

Dear 5p- syndrome Community... Driving research just got easier! The Cri du Chat or 5p- syndrome Citizen Health link has officially launched! CDCRF is excited to share that Citizen Health, formerly Ciitizen, has just rolled out a brand new, easier than ever onboarding experience - it now takes as little as five minutes to sign up to help drive vital research efforts for our community and get all your or your loved one's medical data collected in one secure place! We are teaming up with Citizen Health for the easiest way to build a robust diagnosis specific natural history study which is necessary to design clinical trials for treatment development. Help us reach our goal! The participation of every individual & family impacted by 5p - syndrome can make a significant difference for our community by signing up. #ourlegacytheirfuture Join here today... https://lnkd.in/eh5bxwbr...

Cri du Chat syndrome or 5p- syndrome has officially launched its medical record collection for our Natural History Study using Citizen Health! A diagnosis specific 'Natural History Study' is imperative for clinical trial design. Please sign up today! We need every U.S. based 5p- family to participate! Every one of us can make an impact on our generations and future generations of individuals living with 5p- syndrome by participating. #ourlegacytheirfuture Click the link to register. https://lnkd.in/eQzC8M6m International families please create an account on Citizen Health, We aren't able to collect records for other countries at this time if they did not receive care in the US. However, if you find it valuable you are able to upload your own records to your Citizen account to store them and easily share them from your portal. We're looking to have some more features available to international families later this year! We will keep you updated and please let me know if you have any questions!

The impact on and experience of 5p- siblings is not spoken about enough! CDCRF is recruiting 5p- syndrome siblings to participate in an awareness project providing our rare sib's perspectives. Please email info@criduchatresearch.org if interested in participating or private message on social media. Thank you to those who have already submitted their videos! Please submit your videos as soon as possible. Thank you!

On May 16th, CDCRF hosted its 7th Annual Cri du Chat Research Golf Outing. The goal of this event is to raise awareness and update our dedicated donors on CDCRF funded scientific programs driving therapeutic development for our rare disease. The event also serves as a platform for 5p- families to tell their stories. We invite you to view this video from 5p- mom, Lindsey Topping-Schuetz, leader of the CDCRF community activation committee. The committee is launching a new spotlight program for our 5p- families who are dedicated to building a legacy for our children. Donate here... https://lnkd.in/eCFArJ-g

Help us raise the bar for 5p- syndrome!! Support the Cri du Chat Research Foundation by purchasing a raffle ticket at a chance to win this truly amazing prize. Win a 3-hour, 12-person private cruise on the largest luxury yacht on Lake Michigan! Includes Captain and stew, catered lunch and Premium open bar for 12-people! Raffle will close on July 1st 10pm EST! BUY YOUR RAFFLES HERE: (or use QR code included below) https://lnkd.in/ebSyz8sA

MILLION DOLLAR BIKE RIDE IS THIS MORNING! TEAM CRI DU CHAT RESEARCH IS ON OUR WAY TO PHILADELPHIA TO RAISE CRITICAL FUNDS FOR 5P- SYNDROME RESEARCH NEEDED TO FURTHER THE DEVELOPMENT OF GENE THERAPY & THERAPEUTIC DEVELOPMENT FOR OUR RARE DISEASE. PLEASE SUPPORT OUR RIDE BY MAKING A DONATION HERE....GO TEAM CRI DU CHAT RESEARCH! https://lnkd.in/e66Ne-HT

We would like to welcome, Elli Brimble, to the CDCRF Scientific Advisory Board! Elli Brimble has a Master's in Science from Boston University School of Medicine and the University of Toronto in Molecular Genetics and Genetic Counseling. Elli leads the FOXG1 Research Foundation's clinical research and natural history work. Elli served as the Director of Rare Diseases at Invitae. She currently serves as the head of clinical strategy for Ciitizen. Elli was a genetic counselor in Child Neurology at Stanford Children’s Health. She also co-directed Stanford’s Neurogenomics program where she worked on the creation of Natural History Studies for rare, neurological disorders.