NGLY1.org
NGLY1.org has served as a public resource web site on N-glycanase deficiency for researchers, clinicians, patients and their families since September 2012. In October 2014, it transitioned into an all-volunteer 501(c)(3) nonprofit corporation for scientific, educational and charitable purposes. Currently, the organization is based in Salt Lake City, Utah and serves scientists, clinicians, and families.
The mission of the NGLY1 Foundation is to eliminate the challenges of N-glycanase Deficiency through research, awareness and support.
Research: Conduct and promote science that may lead to understanding, treatments and cures for N-Glycanase Deficiency. Research activities may include, but are not limited to:
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Funding/collaborating with researchers
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Setting up a patient registry
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Biomarker approval
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Mobilize participants for clinical trials/medication studies
Awareness: Educate the scientific, medical, and general populations to improve diagnosis, understanding, and treatment of N-Glycanase Deficiency. The NGLY1 Foundation will also share with the general public and rare disease community the lessons, techniques, resources, etc. obtained in the process of executing the mission.
Support: Provide guidance and community support for families of individuals (mostly children) affected by NGLY1 Deficiency. Due to the emotional, financial, and psychosocial burdens of care for individuals with NGLY1, our organization works to relieve the strain put on these families. Support activities include, but are not limited to:
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Bring together the NGLY1 community
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Family conferences with financial support for travel
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Connect families and researchers