OMIM in the spotlight

Submitted by Alonzo LaMont on Fri, 02/05/2016 - 11:36am

      Our upcoming Podcast will focus on the current financial issues facing the Online Mendelian Inheritance in Man (OMIM). Specifically, their future funding. Below are several paragraphs from a recent story in Science:

As the world's most authoritative catalog of human disease-related genes approaches its 50th birthday, it faces unsettling change. Over the next few years, the National Human Genome Research Institute (NHGRI) expects to bow out as sole funder for the granddaddy of genomic databases, known as Online Mendelian Inheritance in Man (OMIM). Who will pick up the tab is not yet clear. Other, newer databases supported by NHGRI are facing a similar threat as the National Institutes of Health (NIH) takes stock of all its data resources.

Users are concerned. These free-to-use resources, which cover everything from yeast genomics to proteins, are “critical for our daily life as geneticists and biomedical researchers,” says University of California, Berkeley, geneticist Jasper Rine, president of the Genetics Society of America. Ada Hamosh of Johns Hopkins University in Baltimore, Maryland, who oversees OMIM, adds: “If NIH is going to develop new funding models, they need to make sure they don't compromise the integrity of existing, heavily used resources.”

Need some history about the creation and genesis behind OMIM?  

Online Mendelian Inheritance in Man (OMIM®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. It is thus considered to be a phenotypic companion to the Human Genome Project. OMIM is a continuation of Dr. Victor A. McKusick's (pictured below) "Mendelian Inheritance in Man."

"Mendelian Inheritance in Man" was published through 12 editions, the last in 1998. OMIM is currently biocurated at the McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine. 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 guest for this Podcast is Dr. Ada Hamosh, and last month she gave a presentation to members of the Welch Library staff that illustrated the difficulties surrounding the need for continued funding. A quick search around the web revealed that Genes To Genomes a blog for the Genetics Society of America weighed in on the same concerns regarding funding, and Science Policy For All also sounded the alarm call. We’re sure Dr. Hamosh will share her honest assessments about the present and future landscape for OMIM.  

 

 

 

 

The Welch Library Communications Team