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October 2019: Dr. Bouley receives Neurofibromatosis Research Fellowship from Boston Children’s Hospital

October 2019: Dr. Bouley receives Neurofibromatosis Research Fellowship from Boston Children’s Hospital

Stephanie Joy Bouley Ph.D., a Post-doctoral researcher in the laboratory of Dr. James Walker, has received the Dorothy and Spiro Latsis Fellowship in Neurofibromatosis Research from Boston Children’s Hospital.

 Established by the Dorothy, Emma, & Spiro Latsis Benevolent Trust to support a fellowship in translational and clinical researchin neurofibromatosis, this award aims to encourage the most talented and promising clinical translational scientists to pursue promising research in the field of NF1, and to foster the careers of young scientists pursuing research dedicated to finding successful treatments for NF1.

With this two-year fellowship, Dr. Bouley will continue her work on identifying unique network signatures associated with NF1 loss in plexiform neurofibromas. In addition to funding this work, the Latsis fellowship will also allow for Stephanie to attend the annual Children Tumor Foundation’s NF Conference, a global event, now attracting nearly 500 participants worldwide across a wide range of scientific disciplines, from research and clinical backgrounds, all focused on improving outcomes for patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. Congratulations Dr. Bouley!

September 2019: Dr. Walker Speaks at Annual CTF NF Conference

September 2019: Dr. Walker Speaks at Annual CTF NF Conference

Dr. James Walker from the Center for Genomics Research at MGH recently spoke at the annual NF Conference hosted by the Children’s Tumor Foundation in San Francisco, California. First held in 1985 as a roundtable of 20 participants, the NF Conference is now the most important scholarly gathering of the NF research and clinical communities. The NF Conference is a global event, now attracting nearly 500 participants worldwide across a wide range of scientific disciplines, from research and clinical backgrounds, all focused on improving outcomes for patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis.

Dr. Walker’s talk, entitled “Modeling NF1 in Drosophila” kicked off the Animal Models session of the four-day conference. Dr. Walker’s talk focused on the novel insights the fruit fly Drosophila has provided into NF1 biology.

The next NF Conference will be held in Philadelphia, PA from June 13th to June 16th. For more information, please visit: https://www.ctf.org/get-involved/nf-conference

May 2019: Dr. Walker Receives Award from the CTF NF1 Gene Therapy Initiative

May 2019: Dr. Walker Receives Award from the CTF NF1 Gene Therapy Initiative

James Walker, Ph.D. of the Center for Genomic Medicine at MGH was one of two recipients to receive funding from the Children’s Tumor Foundation in the form of a NF1 Gene Therapy Initiative Award. Each award is for $240,000 for a duration of two years.

Dr. Walker’s project, entitled “Development of NF1 therapeutics with CRISPR-based technologies,” focuses on investigating the feasibility of using genome editing (both CRISPR-based homology-directed repair and base editing) as a therapeutic approach to correct three pathogenic NF1 mutations in cultured human Schwann cells. His team will capitalize on recently developed CRISPR/Cas9 and -Cas12a variants, which increase the targeting range, activity, and fidelity (reducing off-targets) of gene-editing in collaboration with Dr. Ben Kleinstiver of the Center for Genomic Medicine at MGH.

With a view to developing the most promising strategies into potential therapies for NF1 tumors, the Walker team will also initiate a screen to optimize viral vehicles for Schwann cells that will be essential for in vivo delivery of CRISPR genome engineering tools with Dr. Ben Deverman, Director of Vector Engineering at the Broad Institute.

Samantha Ginn, Ph.D., at Children’s Medical Research Institute in Australia also received an NF1 Gene Therapy Initiative Award. Dr. Ginn and her team propose to use a CRISPR/Cas9-based homology-independent targeted integration (HITI) approach to replace large sections of mutated NF1 gene. In contrast to methods targeting individual patient-specific mutations, this approach has the advantage of targeting multiple mutations with a single gene editing vector, and thus will be applicable to many NF1 patients.

To find out more information about the CTF NF1 Gene Therapy Initiative and other projects funded by the Children’s Tumor Foundation, visit www.ctf.org.

From L to R: Ben Kleinstiver Ph.D., James Walker Ph.D., Samantha Ginn Ph.D., and Leszek Lisowski Ph.D.

 

March 2019: Researcher Brittany Leger Speaks at International Drosophila Meeting

March 2019: Researcher Brittany Leger Speaks at International Drosophila Meeting

Research Associate Brittany S. Leger recently spoke at the Genetics Society of America 60th Annual Drosophila Research Conference held in Dallas, Texas. Her Models of Human Disease Plenary Platform Presentation, entitled, “A Conserved Role for the N-Glycosylation Pathway in Sleep and Seizures,” focused on her research into the effects of ALG10 mutations and protein N-glycosylation on sleep and seizure phenotypes in a Drosophila model of ALG10 loss. This work is a result of a collaboration between the Walker and Saxena labs from the Center for Genomic Medicine at MGH, as well as with the Schreiber lab at the Broad Institute. Well done Brittany!

For more information about the Annual Drosophila Research Conference, visit: https://genetics-gsa.org/drosophila/

For more information about the Saxena lab, visit: https://cgm.massgeneral.org/faculty/richa-saxena/

For more information about the Schreiber lab, visit: https://www.broadinstitute.org/schreiber-lab

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