August 9 , 2007
IC Directors
Kerry Brink, Assistant to the Deputy Director, NIH
IC Directors’ Meeting Highlights — June 14, 2007

Discussion Items

I. Information Technology and Governance: What Do You Want to Know?

In preparation for the upcoming information technology (IT) mini retreat, Dr. Jack Jones provided a form for IC Directors to offer their feedback and input that will help to develop the agenda and presentations for the mini retreat. Dr. Jones explained that IT, as a major innovator of technology, complements bio-medical advances. An IT dialogue and understanding is crucial given the many new Web based opportunities, varying technologies and IT projects competing for funding. As one topic of discussion, Dr. Jones proposed the IT governance process in terms of how science and business relate to the IT steward and suggested an example list of objectives:

  1. Start with strategic intent for IT— local or global;
  2. Make clear decisions about what is to be funded;
  3. Determine needed service levels and cost;
  4. Create policy for security and privacy decisions;
  5. Generate clear goals for IT projects and ability to measure.

To facilitate IC Directors' consideration for discussion at the mini retreat, Dr. Jones presented three IT views.

Functional View — tracking data and information

  • Clinical Research Informatics;
  • Computational Biology;
  • Administrative Computing.

Technology View — software concepts

  • Data reflecting the state of something at particular points in time;
  • The processes (pathways) that govern how things will change over time.

Enterprise Architecture View — bridges the functional and technology views

  • Understands the purpose of the organization;
  • Provides pathways and processes;
  • Allocates needed functionality to programs;
  • Creates well understood data elements;
  • Creates protocols (interfaces) that allow the components to work together;
  • Generates technology architecture.

The mini retreat originally scheduled for July 26, 2007, has been rescheduled to October 18, 2007. In closing, Dr. Jones encouraged the IC Directors to complete the form stressing that their input is essential for a meaningful and productive discussion at the IT mini retreat.

II. Scientific Presentation: Mapping Complex Morphologic Traits in the Domestic Dog, Dr. Elaine Ostrander, National Human Genome Research Institute (NHGRI)

Dr. Elaine Ostrander of the National Human Genome Research Institute presented her findings that a single IGF1 is a major determinant of small size in dogs. She explained that size variation in the domestic dog is extreme and surpasses that of all other living and extinct species in the dog family. While the domestic dog descended from the gray wolf 15,000 years ago, the majority of dog breeds originated over the past few hundred years. Dr. Ostrander expressed that understanding the genetic basis for the rapid generation of extreme size variability in the dog, provides important tests of alternative genetic mechanisms and insight into how evolutionary diversification in size occurs rapidly during adaptive radiations.

Dr. Ostrander team's strategy was to examine the genetic basis for size variation to understand how change in size might occur rapidly in dogs and other canines. The team initiated a sequence-based marker discovery across a 15-megabase (Mb) interval on chromosome 15 in the Portuguese water dog. They identified a major quantitative trait locus (QTL) on chromosome 15 influencing size variation within the single breed. Her team next examined genetic variation in the 15-megabase interval surrounding the QTL in both small and giant breeds. They found clear evidence for a selective sweep spanning a single gene that encoded insulin-like growth factor 1. The results revealed that a single IGF1 single-nucleotide polymorphism haplotype is common to all small breeds but nearly absent from giant breeds. Dr. Ostrander explained that the results clearly suggest that the same causal sequence variant is a major contributor to body size in all small dogs.

Dr. Ostrander also described a set of studies aimed at understanding how single gene mutations in dogs affect morphology, specifically in the whippet breed. The typical whippet is similar in conformation to the greyhound, a medium sized sighthound. Dr. Ostrander's lab has found a new mutation in the myostatin gene in the whippet that results in a double muscled phenotype known as the "bully" whippet. Individuals with this phenotype carry two copies of a two base pair deletion in the myostatin gene leading to a premature protein truncation. However individuals carrying only one copy of the mutation are, on average, more muscular than wild type individuals and are significantly faster than individuals carrying the wild type genotype in competitive racing events. These results highlight the utility of performance enhancing polymorphisms, marking the first time a mutation in the myostatin gene has been quantitatively linked to increased athletic performance and raising questions regarding human athletic performance.

Kerry Brink
cc: OD Senior Staff

This page was last reviewed on September 11, 2007.
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