A note from Neurologist-in-Chief Scott Pomeroy, MD, PhD

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Scott Pomeroy

As we enter 2018, I’d like to highlight some exciting developments, including early gene therapy results in cerebral adrenoleukodystrophy and our inaugural epilepsy conference (Feb. 2-3).

Treating the “Lorenzo’s Oil” disease

In October, The New England Journal of Medicine reported highly encouraging first results of our clinical trial of gene therapy to treat cerebral adrenoleukodystrophy (ALD). Of 17 patients infused with autologous, genetically modified blood stem cells, 15 (88 percent) had their disease progression halted, remaining stable for more than two years. The gene therapy corrects a defective ABCD1 gene that causes fatty acids to accumulate and destroy myelin. A phase 2/3 trial, which we are leading together with Massachusetts General Hospital, continues to recruit patients. Read more on the clinical trial website and on our science blog.


The Lennox-Lombroso Pediatric Epilepsy Conference (February 2-3, 2018)

This inaugural conference (Feb. 2-3, Hilton Boston Back Bay, Boston) will cover practical advances in epilepsy research and care, including innovative technological approaches in epilepsy genetics, surgery, neurocritical care, computational neurophysiology and EEG ontogeny. Phillip Pearl, MD and Arnold Sansevere, MD are course directors. Attendees will also have complimentary access to the online CME course Epilepsy: New Concepts and Challenges.

Information and registration here.

CNS presentations

If you weren’t able to attend Boston Children’s talks at last fall’s Child Neurology Society meeting, would like a copy of the slides or have follow-up questions for our team, feel free to get in touch with me. Our presentations:

  • Overview of continuous EEG monitoring in the intensive care unit (Arnold Sansevere, MD)
  • The child neurologist’s guide to the brain tumor survivor: Recognition, mitigation and prevention of neurologic late effects (Nicole Ullrich, MD, PhD)
  • Multicenter studies: Unique opportunities for any investigator (Mustafa Sahin, MD, PhD)

Faculty news

Mustafa Sahin, MD, PhD has been awarded Boston Children’s first endowed chair for Translational Research, the Rosamund Stone Zander Translational Chair. Very fitting, as Mustafa heads up our highly active Translational Neuroscience Center.

David Coulter, MD was honored at the 2017 Child Neurology Society meeting with the Arnold P. Gold Foundation Humanism in Medicine Award, which recognizes an individual who has shown extraordinary and ongoing humanism in their medical career. That describes David to a T: As one parent of a disabled child recently put it, "David Coulter gets it.”

Also at the CNS meeting, Rachel Goldstein Hirschberg, MD, received an Outstanding Junior Member Award.

Kira Dies, ScM, CGG, a genetic counselor in the Department of Neurology, recently received a Code Talker award, presented by the National Society of Genetic Counselors. Like the American Indian code talkers of World Wars I and II, genetic counselors convey intricate, often nuanced information to patients and their families. Kira describes her work with families in our Thriving blog. Beth Sheidley, MS, CGC, was also nominated.

And lastly, I’m proud to announce that I’ve been elected to the National Academy of Medicine, bringing our total membership at Boston Children’s to 17.

As always, we welcome your input and inquiries.

Sincerely yours,

Scott L. Pomeroy, MD, PhD, FAAP

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