For a Family Affected by Rare Disease, Stem Cells are Providing New Hope

When Ariya Panwala was born, she was a happy, squirmy baby — but after a few months, her parents noticed she wasn’t advancing as expected. Her diagnosis with infantile neuroaxonal dystrophy (INAD), a rare and debilitating disorder that attacks the nervous system, upended her parents’ lives. They learned that Ariya would lose her cognitive and motor skills, first finding it hard to walk or control her neck, then that her legs and arms would become tight and weak, with a devastating life expectancy of just 5-10 years.

“It felt like I was hit by a bus,” says Leena Panwala, Ariya’s mother. “I didn’t know what INAD was, and when I turned to the internet for more information, there wasn’t much. There wasn’t a voice for this disease.”

So Leena decided to become that voice. She and her husband Anil launched INADcure, a foundation aimed at advancing research into INAD, developing new therapies, and hopefully finding a cure. Leena, who serves as INADcure’s President, couldn’t just sit back and watch the disease take a hold on her Leena Panwala and her daughter Ariya life — she wanted to do whatever was necessary to help her daughter and other INAD-affected families. That’s what led her to NYSCF.

“Science is our best bet to help Ariya,” she says. “The more we know, the higher our chances of being able to advance treatments.”

NYSCF is now creating cell lines from INAD-affected families to enable a multitude of research projects. INAD is genetic, so NYSCF is working on gene editing patient cells to yield insights into what drives the disease and accelerate treatment development. Gene editing may even hold promise for a cure — by directly fixing the disease-causing mutation to knock out the disease once and for all.

“Gene editing is a powerful tool with a lot of promise for helping patients, especially those with rare genetic diseases like Ariya,” noted NYSCF – Robertson Stem Cell Investigator and gene editing pioneer Feng Zhang, PhD, of the Broad Institute of Harvard and MIT. “The possibility for the technique to give a child their life back is very exciting.”

Leena is optimistic. She’s hopeful for the future, and for her daughter. She wants other families affected by INAD to feel the same.

“I look forward to seeing what the future brings. I try to inspire other families impacted by INAD to keep a positive mindset. Where we are with the science is very exciting, so there is a lot to be hopeful for.”

Diseases & Conditions:

Neurobiology

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