School Notes: School of Medicine
September/October 2015

Researchers discover unusual cause of a deadly cancer

A deadly form of T-cell lymphoma is caused by an unusually large number of gene deletions, making it distinct among cancers, a new School of Medicine study shows. Researchers conducted a genomic analysis of normal and cancerous cells from patients with cutaneous T-cell lymphoma, a cancer of the immune system that normally resides in the skin. Most cancers are driven by point mutations—changes in a single DNA nucleotide that alter the function of an encoded protein—rather than DNA deletions that remove a segment of a chromosome. However, in this form of lymphoma, gene deletions that drive cancer pathogenesis outnumbered point mutations by more than 10 to 1, Yale scientists reported in the journal Nature Genetics in July. “This cancer has a very distinctive biology,” said Jaehyuk Choi ’06MD/PhD, assistant professor of dermatology and lead author of the paper. It is unclear why the cancer has such a high ratio of gene deletions compared to other cancers, but Richard Lifton, chair and Sterling Professor of Genetics and senior author of the paper, noted that during early development, DNA rearrangements produce highly diverse T-cell receptors (which enable them to recognize infected cells bearing viruses or other abnormal proteins). If cells fail to regulate these genetic rearrangements, lymphoma cancers may arise, according to Lifton. Many of the deletions occurred in genes that can drive the proliferation of T-cells and are potential targets for new therapies, added Choi.

Neurology professor appointed to named post

Hal Blumenfeld, professor of neurology, neurobiology, and neurosurgery at the School of Medicine, has been named the Mark Loughridge and Michele Williams Professor of Neurology. Blumenfeld’s work focuses on impaired consciousness in epilepsy and on neuroimaging and electrophysiology during seizures. His team uses powerful brain imaging techniques, electrical measurements, and behavior testing to understand the mechanisms of consciousness during seizures and periods of healthy brain function. Blumenfeld’s team hopes to restore normal consciousness to patients with epilepsy and other brain disorders. Blumenfeld, also director of the Yale Clinical Neuroscience Imaging Center, has published research in multiple books and journals, including Neuron, PNAS, Journal of Neuroscience, Neurology, Cerebral Cortex, and Epilepsia. He has also been honored for his distinguished teaching and graduate student mentorship at Yale.