OMIM's 50th Anniversary Symposium and message from past Welch Director, Nina Matheson

Submitted by jo on Tue, 06/13/2017 - 2:30pm

Online Mendelian Inheritance in Man’s (OMIM) is a continuously updated, comprehensive, authoritative compendium of human genes and genetic phenotypes (disorders and traits) with full-text, referenced overviews of over 8,300 phenotypes and over 15,400 genes.

 The Welch Library was responsible for creating OMIM as an online database, and for providing access.

On May 4th, 2017, Anne Seymour, Director of the Welch Library, spoke at a symposium celebrating the Online Mendelian Inheritance in Man’s (OMIM) 50th Anniversary.  The symposium was held in the West Lecture Hall of the Wood Basic Science Building and the reception was at the Welch Library.  

Several of the many notable speakers at the symposium included: Ada HaMosh, Clinical Director of the McKusick Nathans institute of Genetic Medicine at Hopkins and current Scientific Director of OMIM, Dr. David Valle, Director of the Institute of Genetic Medicine Professor of Pediatrics and Ophthalmology at Hopkins and Dr. Clair Francomano, former Scientific Director for Clinical Disorders for OMIM. The full list of speakers is available here.

 Anne delivered the following statement:

 “I am delighted to share a statement that was sent to me by Nina Matheson, Director of the Welch Library from 1984 to 1993.

 Nina was unable to attend the Symposium today but was very willing to share her recollections on the origin of OMIM.”

 Anne then read Nina’s address:

 “I was fortunate in being offered the position of Director of the Welch Library following Richard Polacek because he had developed a staff that had created one of the first automated library circulation systems and a staff that was knowledgeable and committed to the goal of making a library accessible to users, no matter where their locations.

I knew, having come from the National Library of Medicine, that the Lister Hill Center, NLM’s research arm, had discussed MIM with Dr. McKusick, but no collaboration had emerged.  And I knew that an online search and retrieval system, [Information Retrieval Experiment] IRx, that had been developed by Dr. Charles Goldstein, could be managed by the Welch staff. MIM was a famous library resource, which as a digital file could be the basis for multiple outputs. It was an irresistible opportunity, one of the allures of joining Hopkins. When I approached Dr. McKusick about mounting MIM on IRx and making it available for online searching, he was gratifyingly enthusiastic.

Of course, what eventually emerged as OMIM is thanks to staff work, to my naivete and incredibly thick skin and persistence, to Dr. McKusick’s unwavering support and to NLM funding. Because you have to know that in 1986 desk top computers were far from ubiquitous, and were incredibly slow and used basically as electronic typewriters; local LAN’s were only beginning to be laid; there was no internet; there were only cumbersome dial-up modems to a few services like MEDLINE; only a few had email and there was an enormous skepticism as to its utility; and, computerization was seen by many to be a solution in search of a problem. Thanks to the fact that Dr. McKusick was by nature a pioneer and had embraced technology early and therefore was producing MIM through punch tape and an IBM line printer, the transition while not pain-free was relatively easy.

 The Johns Hopkins Press initially saw OMIM as a threat to the print publication, but the IRx tapes proved to shorten and reduce the cost of the publication process and sales did not decline. They were even able to produce a searchable CD version. I remember the great day when we heard that a geneticist from New Zealand had logged on and searched the latest updated OMIM. Of course, by today’s standard’s, searching was primitive and slow, but it was proof of concept, that an online database could be managed by a library in collaboration with an author and publisher.

 OMIM has succeeded I believe, because of the quality and integrity of the data, the need for the information, and the reliability and ubiquity of the delivery systems; but most of all to the dedication of the people committed to its success. They are to be congratulated.”


Nina Matheson, Welch Library Director from 1984-1993
Nina Matheson, Welch Library Director (1984-1993)