SMA Foundation Brings Experienced Researcher to Cold Spring Harbor Laboratory

hua_portraitFunding from the Spinal Muscular Atrophy Foundation has brought Dr. Yimin Hua to Cold Spring Harbor Laboratory, where he will work in the lab of Dr. Adrian Krainer to advance research into the cures of spinal muscular atrophy (SMA), the leading genetic killer of infants and toddlers.

“Cold Spring Harbor is well-positioned to make major scientific discoveries and train a new generation of clinical investigators in SMA. The recruitment of Dr. Hua will be an excellent addition to their research team,” commented Loren Eng, SMA Foundation’s co-founder and president. “We are pleased to be a partner with Cold Spring Harbor’s efforts to combat the devastating toll of spinal muscular atrophy.”

Dr. Hua comes to Cold Spring Harbor Laboratory after conducting post-doctoral research on SMA at the University of Massachusetts Medical School, New England Medical Center and Fudan University (China). He received his Ph.D. in molecular endocrinology at Zhongshan (Sun Yat-Sen) University (China) in June 1998. Previously he received his M.S. in physiology and his B.S. in biology at Nanjing Normal University (China).

“Here, he will combine his prior experience on SMA with our lab’s expertise in mRNA splicing, and focus on the problem of how to fix the splicing defect in the SMN2 gene,” Dr. Krainer said.

Specifically, Dr. Hua will try to perfect a technology Dr. Krainer’s lab has developed – called ESSENCE – to increase the extent of exon 7 inclusion during SMN2 splicing. This method currently works in the test tube, and Dr. Hua will try to get it to work in vivo, first in cultured cells, and then in an SMA mouse model. In principle, if this approach is successful, it should result in higher levels of functional SMN protein and less degeneration of motor neurons.

Dr. Krainer’s lab investigates the mechanisms and regulation of mRNA splicing, including the reasons why certain point mutations in exons result in exon skipping, leading to many genetic diseases. Their studies of splicing mutations focus on genes involved in breast cancer susceptibility and in the neurodegenerative disease spinal muscular atrophy. They are pursuing the rational design of specific compounds to suppress exon skipping, for both mechanistic studies and potential therapeutic approaches.

The SMA Foundation is a nonprofit organization founded in 2003 dedicated to finding a treatment and potential cure for Spinal Muscular Atrophy (SMA). The Foundation provides funding for the full range of research from basic to clinical work conducted in academic laboratories as well as corporate therapeutics development. In addition, the Foundation is committed to raising awareness, education and increased federal funding and support. For more information on the Spinal Muscular Atrophy Foundation, visit or call (646) 253-7100.

Cold Spring Harbor Laboratory is a private, non-profit basic research institution. Under the leadership of Dr. Bruce Stillman, a member of the National Academy of Sciences and a Fellow of the Royal Society (London), more than 350 scientists at the Laboratory conduct groundbreaking research in cancer, neurobiology, plant genetics, and bioinformatics. For more information, visit