FOX 5 NY – BRAVE GIRL INSPIRES RESEARCH ON RARE CHROMOSOMAL DISORDER | THE BIG IDEA

Article By Teresa Priolo, FOX 5 NY

Karina Shah, 6, has a song in her heart and a beat in her feet. But in truth, it’s her smile that lights up the room.

“She hugs you with no strings attached and I don’t think anyone does that,” Bina Shah, Karina’s mother, said. “She doesn’t want anything back from you.”

Karina is special for so many reasons. Even more so, when you examine her genetic makeup. She is one of just 80 children in the world with Chromosome 8p, officially known as Chromosome 8p–inversion, duplication and deletion.

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.