2008 Genetics, Human Lupus Biology
LRI Class of 2008 Consortium Grant with University of Alabama colleagues Daniel Bullard, PhD, and Jeffrey Edberg, PhD.
Daniel Bullard, PhD, Alexander Szalai, PhD, and Jeffrey Edberg, PhD
Now that scientists have mapped the human genome, they are scanning markers across complete sets of DNA (genomes) and finding genetic contributions to various diseases.
One gene recently associated with predisposition to lupus is called ITGAM (CD11b).
Working from their laboratories at the University of Alabama at Birmingham, investigators Daniel Bullard, PhD, Alexander Szalai, PhD, and Jeffrey Edberg, PhD, will use LRI support to pursue their hypothesis that genetic mutations in this particular gene may lead to lupus.
To do this, they will use human material from healthy people to determine whether alterations in the gene might instigate and promote the autoimmune illness.
CD11b is a subunit of an important adhesion molecule that is present on cell surfaces and takes part in enabling cells to bind to others. It is primarily expressed on the surface of white blood cell ‘myeloid cells,’ which have in turn been linked to T cell tolerance; the loss of immune system tolerance leads to the production of auto-antibodies and inflammatory tissue injury.
The consortium, a powerful and unique pooling of talent and technology that the LRI was willing to consider for ‘human lupus biology’ research, brings together a trio of investigators with varied expertise including genetics, immunology and cell biology. By using human tissue for part of their study, the investigators are more likely to make discoveries directly relevant to humans.
If successful, the grant has potential to reveal important insights in to the cause and development of lupus, and may also lead to new therapeutic targets.