NGLY1 deficiency is a rare genetic disorder characterized by a variety of debilitating and isolating symptoms, including global developmental delay, movement disorders, seizures, ocular abnormalities, chronic constipation, and life-threatening liver disease.1,2
Currently, there are no approved treatment options for NGLY1 deficiency.
The disorder is believed to be caused by a lack of an enzyme called N-glycanase-1, which is encoded by the gene NGLY1.1 It may be misdiagnosed as Rett syndrome or mitochondrial diseases, but genetic testing can be used to accurately diagnose the disorder.2 Learn more about genetic testing for NGLY1 deficiency.
The following organizations may be a resource for information and support for people with NGLY1 Deficiency and those around them:
NGLY1.org is a patient-run, 501(c)(3) non-profit organization that aims to educate clinicians, researchers, and the public on NGLY1 deficiency, identify NGLY1 patients and foster a supportive community, and fund the science to understand, treat and cure NGLY1 deficiency.
Global Genes is a non-profit patient advocacy organization working to eliminate the challenges of rare disease by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Numerous tools, resources and educational events can be found on the Global Genes website www.globalgenes.org.
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. In the US, NORD is also the official sponsor of Rare Disease Day, an annual global observance that raises awareness of rare diseases and elevates them into the public consciousness as an important health issue that cannot be ignored.
EURORDIS is a non-governmental patient-driven alliance of more than 700 rare disease patient organisations in more than 60 countries. EURORDIS strives to build a strong pan-European community of patient organisations and people living with a rare disease, to be their voice at the European level, and - directly or indirectly - to fight against the impact of rare diseases on their lives. EURORDIS leads global efforts for Rare Disease Day and the online social platform for people living with or affected by a rare diseases RareConnect. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org.
Kristen and Matt Wilsey founded the Grace Science Foundation when their daughter Grace was diagnosed with a rare genetic disease called NGLY1 deficiency. This complex and devastating neuromuscular disease affected less than 5 known patients worldwide at the time. Very few resources existed that were devoted to NGLY1 deficiency, either in terms of funding, public awareness, active research, or existing knowledge. Undeterred, the Wilseys decided to apply their passion and entrepreneurial spirits to finding a cure for Grace and other NGLY1 deficiency patients. Over the last 6+ years, the foundation has assembled a world-class team of 75 scientists across 20 teams in the United States, Canada, Japan, and Germany. They work not only to understand the disease and develop a cure, but also to drive innovations in the world of genetic research in general. Their work has been featured by CNN.com, the San Francisco Chronicle, Der Spiegel, and the New Yorker. To learn more, please visit www.gracescience.org.
- NGLY1.org. Research. Available at: http://www.ngly1.org/research/. Last accessed: July 28, 2016.
- Grace Science Foundation. What is NGLY1 Deficiency? Available at: https://gracescience.org/our-work/#section. Last accessed July 28, 2016.