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Scott Pomeroy

As we enter 2018, I’d like to spotlight some thrilling developments, together with early gene remedy leads to cerebral adrenoleukodystrophy and our inaugural epilepsy convention (Feb. 2-Three).

Treating the “Lorenzo’s Oil” illness

In October, The New England Journal of Medicine reported extremely encouraging first outcomes of our medical trial of gene remedy to deal with cerebral adrenoleukodystrophy (ALD). Of 17 sufferers infused with autologous, genetically modified blood stem cells, 15 (88 %) had their illness development halted, remaining secure for greater than two years. The gene remedy corrects a faulty ABCD1 gene that causes fatty acids to build up and destroy myelin. A part 2/Three trial, which we're main along with Massachusetts Common Hospital, continues to recruit sufferers. Learn extra on the clinical trial website and on our science blog.

The Lennox-Lombroso Pediatric Epilepsy Convention (February 2-Three, 2018)

This inaugural convention (Feb. 2-Three, Hilton Boston Again Bay, Boston) will cowl sensible advances in epilepsy analysis and care, together with progressive technological approaches in epilepsy genetics, surgical procedure, neurocritical care, computational neurophysiology and EEG ontogeny. Phillip Pearl, MD and Arnold Sansevere, MD are course administrators. Attendees will even have complimentary entry to the web CME course Epilepsy: New Concepts and Challenges.

Information and registration here.

CNS shows

Should you weren’t capable of attend Boston Youngsters’s talks finally fall’s Baby Neurology Society assembly, would really like a replica of the slides or have follow-up questions for our staff, be happy to get in contact with me. Our shows:

School information

Mustafa Sahin, MD, PhD has been awarded Boston Youngsters’s first endowed chair for Translational Analysis, the Rosamund Stone Zander Translational Chair. Very becoming, as Mustafa heads up our extremely lively Translational Neuroscience Center.

David Coulter, MD was honored on the 2017 Baby Neurology Society assembly with the Arnold P. Gold Basis Humanism in Drugs Award, which acknowledges a person who has proven extraordinary and ongoing humanism of their medical profession. That describes David to a T: As one mother or father of a disabled baby just lately put it, "David Coulter will get it.”

Additionally on the CNS assembly, Rachel Goldstein Hirschberg, MD, acquired an Excellent Junior Member Award.

Kira Dies, ScM, CGG, a genetic counselor within the Division of Neurology, lately acquired a Code Talker award, introduced by the Nationwide Society of Genetic Counselors. Just like the American Indian code talkers of World Wars I and II, genetic counselors convey intricate, typically nuanced info to sufferers and their households. Kira describes her work with families in our Thriving blog. Beth Sheidley, MS, CGC, was additionally nominated.

And lastly, I’m proud to announce that I’ve been elected to the Nationwide Academy of Drugs, bringing our complete membership at Boston Youngsters’s to 17.

As all the time, we welcome your enter and inquiries.

Sincerely yours,

Scott L. Pomeroy, MD, PhD, FAAP