Parents of Kids with NGLY1 Deficiency Lead Urgent Push for Cure

Author: Grace Science Foundation
Published: 12 Apr 2018

Contents: Synopsis - Introduction - Main - Related Publications

Synopsis: Parents of kids with rare disease lead urgent push for cure - Global Family Advisory Board to aid critical race to cure NGLY1 deficiency.

Introduction

Parents of kids with rare disease lead urgent push for cure - Global Family Advisory Board to aid critical race to cure NGLY1 deficiency.

Main Content

The Grace Science Foundation ("GSF") announced the formation of their global Family Advisory Board, aiming to give a voice to families of patients suffering from NGLY1 Deficiency, a rare genetic disorder with devastating and debilitating effects.

The new advisory board is one of several new initiatives GSF founders Kristen and Matt Wilsey are implementing to address the grim realities faced by rare disease patients; research is almost nonexistent and patients are siloed in their respective parts of the world.

"Global collaboration and community are essential to finding an urgently-needed cure," remarked Matt Wilsey, "Not only does it empower patients' families to take part in this critical mission, but also it enables us to provide NGLY1 researchers with quick, accessible data, from a diverse group of patients."

Diversity is key in this initiative, Wilsey noted, with the advisory board consisting of 20 board members (10 mothers and 10 fathers) from 9 countries, including Turkey, Germany, India, China and the United States.

NGLY1 Deficiency is a genetic disorder that affects many body systems, causing seizures, delayed development, movement abnormalities, liver dysfunction, eye abnormalities, and a reduction or absence of tears.

Many families feel they're sitting on the sidelines, helplessly watching their children experience the devastating effects of the disorder, but now they get to play a central role in decision-making processes. Key among their considerations and contributions:

• Focusing GSF researchers on the most important and impactful aspects of the disease.
• Providing early feedback on therapeutic approaches up for consideration to ensure that the most relevant patient symptoms are being targeted.
• Helping to spread NGLY1 global awareness and increase support.

The Grace Science Foundation is a not-for-profit organization, whose mission is to cure NGLY1 Deficiency by pioneering approaches to scientific discovery that are faster, less expensive and more collaborative.

Attribution/Source(s): This quality-reviewed publication was selected for publishing by the editors of Disabled World (DW) due to its relevance to the disability community. Originally authored by Grace Science Foundation and published on 12 Apr 2018, this content may have been edited for style, clarity, or brevity.