This past July, Kelly Gawron took part as a speaker for the 2017 Global Foundation for Peroxisomal Disorders (GFPD) Family and Scientific Conference in Washington D.C. The GFPD is a patient advocacy foundation that promotes research aimed to improve the lives of families affected by peroxisome disorders. Peroxisome disorders, such as Zellweger spectrum disorder (ZSD), are rare, terminal genetic disorders of lipid metabolism that affect 1 in 50,000 children. Research on these diseases is scarce, resulting in little to no treatment options for children affected by these debilitating diseases.
To address this, Kelly worked with her mentor, Dr. Mousumi Bose, to develop a Zellweger spectrum disorder (ZSD) symptom inventory to better the assess the frequency and occurrence of symptoms related to the disease. Over the last year, Kelly and Dr. Bose developed this survey as well as identified appropriate validated instruments to assess quality of life measures in families affected by these diseases. These assessments will help establish natural history data for peroxisome disorders, which, according to the FDA, is crucial for the development of therapeutic options for diseases.
At the 2017 GFPD conference, Kelly presented information on the study to GFPD families and provided an interactive online forum for families to take part in a pilot survey to further inform the development of ZSD symptom inventory. As a result of Kelly's presentation, 33 families participated in the pilot survey, which provided vital feedback to the current inventory. Congratulations to Kelly for her important role in this conference and in her research contribution to an underserved community!