Welcome to
Cure SRD5A3

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Who We Are

Our mission is to bring together researchers, families and resources to find a cure for SRD5A3.

This initiative began as a personal journey for Vijay Sappani when his daughter Ela was diagnosed with SRD5A3, a rare Congenital Disorder of Glycosylation (CDG). With a background in pharmacy, Vijay knew well enough that CureSRD5A3 was not going to be a one-man endeavour and he began connecting with other SRD5A3 families.

Symptoms

  1.  Reduced muscle tone as early as the first 6 months of life.
  2.  Eye problems;
    • Impaired vision.
    • Nystagmus of the eye, defined as the rapid rhythmic (involuntary) movement of the eyes.
    • Eyes lie deep within the patient’s sockets, with a greater-than normal space in between them, and
    • although less frequent, cataract formation and increased eyeball pressure.
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CureSRD5A3 is a community designed to help caregivers, families, and scientific and medical professionals learn more about this rare condition.

Become A Volunteer

Latest Blogs

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Bertrand Might's life led to crucial medical discoveries

After years of research, it was the discovery of a double mutation in Bertrand’s NGLY1 gene

20 Oct 2020
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World CDG organization is looking for researchers

The World CDG Organization (WCDGO, www.worldcdg.org), the international patient-led CDG & Allies -PPAIN research network

03 Nov 2020