Update from the Annual GFPD Scientific Advisory Meeting

June 22, 2016

The summer is off to a great start for the field of PBD-ZSD research! This month, the GFPD held its annual Scientific Advisory Board meeting at the Kennedy Krieger Institute. This meeting included 20 attendees, including the GFPD Scientific Advisers, the GFPD Board of Directors, and several guests. The following current topics in in the field of PBD-ZSD research were discussed:

 

  • Update on recent PBD-ZSD Therapy Fellowship at NCATS (co-funded by the GFPD and the Wynne Mateffy Research Foundation)

 

  • Use of metabolomics technology to identify potential novel therapeutic drug targets

 

  • Identification of additional genetic changes found in PBD-ZSD which may modify the expression of the genes, the major genes associated with PBD-ZSD, and provide insight why a broad spectrum of clinical presentations are observed in PBD-ZSD.

 

  • Available resources to collect natural history data on PBD-ZSD

 

  • Bone metabolism in PBD-ZSD

 

  • Newborn and carrier screening efforts in PBD-ZSD

 

  • The development of retinal gene therapy efforts in preclinical models for PBD-ZSD

 

  • The feasibility of treating the central nervous system effects of PBD-ZSD with gene therapy

 

The GFPD is so very proud to help facilitate these amazing efforts and we looking forward to keeping you posted on the exciting progress.

 

 

Sincerely,

 

Mousumi Bose, GFPD Medical and Scientific Research Liaison.

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