User Support, Genome Data Base
Johns Hopkins University
2024 E. Monument Street
Baltimore, MD 21205 USA
v: (410) 614-0638
f: (410) 614-0434
Health care/health services
More equitable access to technology or electronic information
Supporting Documentation (contact author for more information):
Other (Online Mendelian Inheritance in Man, a knowledge base)
I support users located all over the world for two related databases: Genome Data Base, containing human gene mapping data, and OMIM, a catalog of human genes and genetic disorders. We have had users register from far-flung places such as Russia and Saudi Arabia, but the most amazing interaction with a user I’ve had so far is the Internet relationship I’ve developed with a doctor practicing in Malaysia.
One morning in June, 1992 I came into work and checked my email queue, which receives messages sent to our help alias. One of the messages sent to the help alias, but addressed to me in particular, was from a Dr. Elizabeth Hillman, describing herself as “a Canadian paediatrician working in an isolated medical school on the underserved East Coast of Malaysia. . We have just successfully connected to Internet and have no trouble communicating from here.”
I sent her back an email telling her we’d be happy to register her, and that I was unaware that I was famous in Malaysia! My co-worker Kerryn Brandt joked with me about a bunch of natives bowing before a Sun workstation chanting, “Patty Haley, Patty Haley.” Word spread around the office and more than once the comment was heard, “How isolated can they be if they’re on the Internet?” We mailed her a letter containing her login and password, and shipped her our documentation via UPS. About three weeks later she emailed us again to let us know that she had received her letter, but was still waiting on the documentation: “I expect I should wait for my package but all my colleagues are so keen to get using the data base that I am being pressured into contacting you as I am already able to communicate through MIMOS in Kuala Lumpur through Internet.”
She then asked us to help her solve a medical mystery of a woman and her premature baby. She described the baby’s condition in detail, and asked us to find out both if the baby’s condition had a name, and whether or not the mother’s future children could be afflicted. We are normally too short-staffed to perform searches for users, but we decided she was an exception.
Kerryn searched on the keywords of the baby’s condition in OMIM, and forwarded three entries that were relevant. Dr. Hillman and associates were able to diagnose the baby as having Baller-Gerold Syndrome. “Do you know what something like this means in a really isolated place like this where such information is impossible to find?… Maybe you and Kerryn better come to Malaysia for a visit. It is a beautiful country, and our beach is called `The Beach of Passionate Love’!” She mentioned wishing she could send us orchids by email, but her grateful email was the equivalent. I heard from Dr. Hillman a few times over the summer, and I learned that she got our documentation, but I also learned she was coming back to Canada for her daughter’s wedding.
Around Christmas, she emailed again with greetings and another OMIM question. Dr. Hillman and colleagues are not directly on-line with their Internet host, which is why they have not begun searching the database themselves, but it is always nice to hear from her.
She mentioned in her Christmas query (and greetings) that she would be in Baltimore in May, so we may have the opportunity to meet face- to-face. I hope that we can meet, as she represents what user support is all about–people helping people.
We couldn’t have done it without the Internet.