Join the Cause
There is no cure for 8p disorders, nor is there a standard course of treatment.
We are driven by a simple question: What can we do for our child, family member, friend, or patient impacted by this diagnosis? We’re committed to leaving no stone unturned in order to help 8p heroes in a meaningful way.
Researchers are trying to uncover which genes are crucial, how they work, and what treatment options are possible. Without your support, individuals with a chromosome 8p disorder face daily challenges in normal things most take for granted like walking and talking. They also deal with serious health impacts with seizures and heart defects. We are working day and night to help our beautiful 8p heroes. Help us get closer to a cure and closer to answers for quality care.
My daughter beams with light and gives hugs to everyone around her, from a stranger to her brother, so long as she senses positivity. Even all of her specialists (over a dozen!) receive a huge embrace with a cheek to-cheek-smile from her. She is smart, and she captivates those around her.
She was born with what appeared to be healthy, except for a rare genetic mutation in the 8th chromosome. Some of her genes are missing, some are duplicated, and some are flipped around. And nobody has a clue as to how this happened.
Research towards Treatment
Among the main goals of the Human Genome Project (HGP) was to develop new, better and cheaper tools to identify new genes and to understand their function.
Aligned with Project 8p’s mission of translational research is our ability to fund and welcome partnerships to take clinical action. With quality data sharing, transparency, and access to our iPSC lines and models, we encourage researchers around the world to help us discover clinically relevant, medically actionable, stretch of DNA that is the key to help individuals affected by genetic disease, and the “future of medicine” for 8p disorders.
We invite researchers to help us identify therapeutic targets, downstream and driver casual genes, functional assays for the most important phenotypes and symptoms, and develop treatments and possible prevention of this disorder. We do not know how this manifests into adulthood. What if we could prevent symptoms that manifest later in life?
We are pragmatic and impatiently patient about the unknown timeline; therefore, we want to start now and be ready to take advantage of the future of genome medicine.