Presentation Abstract
Presentation Abstract
Student's Name: Eric Winitzer '27
Co-registrant Names:
Type of Presentation: Poster
Presentation Title: "How Does Genomic Imprinting Effect the Pathogenesis of Prader-Willi Syndrome?"
Abstract:
This research poster focuses on how genomic imprinting effects the pathogenesis of
Prader-Willi syndrome(PWS). Prader-Willi syndrome is rare genetic disorder that results
in a number of physical, mental and behavioral problems. Key distinctions of Prader-Willi
syndrome are: a constant sense of hunger that usually begins at about 2 years of age,
underdeveloped sex organs, poor growth and physical development, ongoing poor articulation
of words into adulthood, underdeveloped sex organs, poor muscle tone, and sometimes
sleep disorders. I did my research by reviewing four articles about PWS and trials
that were performed to decipher exactly how PWS is genetically imprinted. Along with
the articles, I had my mom and dad send me the progress analyses’ of my sister from
when she was an infant. These papers detailed her development, her strengths, weaknesses,
and exactly when doctors suspected she had PWS and how they tested for it. My research
founded that Prader-Willi Syndrome is caused by uniparental disomy, with the absence
of imprinted genes of the paternal chromosome region 15q11-13. Both copies of a part
of chromosome #15 from the mother are present, causing Prader-Willi Syndrome. Future
research consists of further examining the disorder, further understanding symptoms,
and developing potential treatments.