Dr. Mousumi Bose, Assistant Professor in the Nutrition and Food Studies Department, recently published a new manuscript entitled, “Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers.” Two former graduate students, Kelly Gawron and Dana Schules are also listed as authors for this work.
The authors used an online survey tool completed by family caregivers to study the occurrence, frequency and severity of symptoms in individuals diagnosed with ZSD. Responses from caregivers representing 54 living and 25 deceased individuals with ZSD were collected over an 8-month period. Both perception of disease severity and prevalence of various symptoms were greater in responses from family caregivers of deceased individuals compared to those of living individuals with ZSD.
Dr. Bose focuses her research on rare diseases, especially Zellweger spectrum disorder (ZSD), a rare, life-limiting preoxisome disorder. As such, Dr. Bose contributed to the first published treatment guidelines for ZSD. She is passionate about learning what is important to rare disease families and using that information to help improve their lives.
Dr. Bose aims to improve the standards of care for families affected by rare pediatric disorders, by shifting the paradigm of care to a more community-wide, public-health approach. Her goal for the fellowship is to compose and submit a publication describing the impact of gender on the nature of family care-giving for rare diseases.