June 23, 2013

N-glycanase deficiency is an official disorder.

On June 12, 2013, Bertrand and N-glycanase deficiency made it into the Online Mendelian Inheritance in Man® (OMIM). The entry for N-glycanase deficiency is #610661 and it is cross-listed with entry #615273 for Congenital Disorders of Glycosylation, Type IV.
"The OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

This database was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). Twelve book editions of MIM were published between 1966 and 1998. The online version, OMIM, was created in 1985 by a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins. It was made generally available on the internet starting in 1987. In 1995, OMIM was developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.

OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh."
Our heartfelt thanks go out to Dr. Vandana Shashi, Kelly Schoch, Dr. Anna Need, and, last but not least, Dr. David Goldstein at Duke University for making the impossible possible.  As the Mights like to say, "keep pushing!"  :)


  1. Hey, Cristina. I'm not sure if this would be helpful for Bertrand or not: http://www.bostonsight.org/PROSE-treatment/About-PROSE

    Apparently they're not just corrective but also soothing for the eye.


    1. Thanks, Emily! We were told a while back that those could be an option when he is a bit older. I forget why he has to wait, so I'll ask again. :) xo