5p- Research Alliance (5pRA)
5pRA is a non-profit organization with the mission of fueling research on 5p- genetic disorders to better the lives of impacted individuals. By providing research grants to qualified researchers and clinicians, 5pRA strives to support the development of treatments for 5p- individuals.
What is 5p- Syndrome?
5p- syndrome is a rare genetic disorder wherein impacted individuals are missing part of or the entire short arm of their fifth chromosome. 5p- syndrome occurs in 1 in 35,000 to 50,000 live births, or around 50-60 babies in the US, per year. A common symptom of 5p- syndrome at birth and in infancy is a cat-like cry, leading to the syndrome’s other name of cri du chat (French for “cry of the cat”) syndrome.
5p- syndrome is commonly associated with low muscle tone, small head size, developmental delay, intellectual disability, and a variety of health ailments.
Example “cat cry” for 1-day old baby with 5p- syndrome:
Research
The overarching mandate of 5pRA is to foster gene therapy, drug repurposing, and nutrition research projects related to 5p- syndrome.
Research Spotlight: 5pRA is collaborating with Professor Kenneth Kosik and a group of researchers at the Kosik Lab at University of California, Santa Barbara, to develop induced pluripotent stem cells and brain organoids from the skin cells of individuals with 5p- syndrome, with the goal of better understanding the syndrome and identifying candidate therapeutical genes.
Letter from the Founders
When our daughter was born in 2020, we, like so many generations of first-time parents before us, fell in love with her at first sight and marveled over her sleepy eyes, tiny hands and feet, full head of hair, and cute, mewing cry. However, in the coming days, our marvel would turn into concern and we would start on an unexpected journey…
Get Involved
Whether you are impacted by 5p- syndrome, a 5p- caregiver, a researcher, or someone who just wants to get involved, we would love to hear from you!