This year my lab has moved to the University of Pennsylvania School of Medicine where we have joined the Department
of Cancer Biology. We are part of the Abramson Family Cancer Center, a multi-disciplinary center consisting of basic scientists
and clinicians working together to translate discoveries from the lab into novel therapies for more effective cancer treatments.
The major focus in my lab has been to identify which genes on chromosome 21, present in three copies in Down syndrome individuals,
are responsible for protecting this population from most cancers. As many of you are aware, the genes that
we have been investigating are called DSCR1 and DYRK1A. We published our research this past spring demonstrating that these
2 genes, when present in 3 copies, block the growth of new blood vessels necessary for tumors to grow. This
process of angiogenesis is a crucial step for tumors to expand and metastasize. We have been continuing this work at U. Penn
with our current studies investigating how these genes can be made into drugs for treatment of all individuals.
Our preliminary work suggests that we can utilize a portion of each of these genes and develop peptides that may be
delivered specifically to the cell types that generate blood vessels.
More recently, we have been investigating the role of these same genes, DSCR1 and DYRK1A,
in promoting Acute Myeloid Leukemia, a type of leukemia prevalent in the Down syndrome population. While
the Down syndrome population is protected against most solid tumors, they have an unusually high incidence of an Acute Myeloid
Leukemia. Studies have suggested that development of this blood cancer in Down syndrome is due to a subset
of genes located on chromosome 21. Surprisingly, our current work indicates that these same 2 genes may
be responsible for the increase in Acute Myeloid Leukemia in the Down syndrome population. We are actively investigating the reason why
these genes may promote blood cancers while protecting against solid tumors in organs.
We are truly grateful for the support from the Garrett B. Smith Foundation as this has allowed us to explore novel hypotheses
that have led to the identification of new potentially “drug-able” targets for fighting cancer.