#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome

DNA Today: A Genetics Podcast - Un podcast de Kira Dineen - Les vendredis

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On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss:Genetic causes of Prader-Willi Syndrome (PWS)Challenges faced by caregivers of patients with PWSPWS symptom management Harmony Bioscience’s phase 2 clinical study in PWSRequirements for study participationCheck out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey.Refer your patients to Knowrare to join the study here. Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Rachel Pastiloff is a mom of 2, who lives in southern California. She’s active on Instagram, teaching hard, cold facts of living with a child with a rare disease and she is passionate about advocating for her 15 year old son, Blaise, with Prader-Willi Syndrome and the entire family’s wellbeing.Krystle Davis is the senior manager of clinical operations at Harmony Biosciences where she oversees the execution of clinical operations of a phase 2 clinical trial in Prader-Willi syndrome. Krystle has over 12 years of combined experience working in the biotechnology, pharmaceutical, and clinical research industries and she enjoys working in clinical research, knowing her work may make a difference in someone’s life. She completed her Bachelor of Science in Biology at Meredith College and a Master of Science focused in Clinical Research at Campbell University.Understanding how our DNA contributes to disease risk is no longer science fiction. Polygenic Risk Scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use PRS to assess how a person’s DNA influences their risk of common diseases.Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems, clinical laboratories and research institutes can be equipped with Allelica’s cutting-edge tools to deploy PRS to identify more people at high risk to reduce the impact of common diseases. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open house at Sarah Lawrence College! In this you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The open house is on December 7th. Go to SLC.edu/DNAtoday, or use the links in the show notes, to sign up for the free genetic counseling open houses. See you there! (SPONSORED)Do you work in cytogenetics? Thinking about applying to new jobs? Well I found a great position for you at UNC Health. In this Senior Cytogenetic Technologist position you will join a team of 20 fellow technologists and specialists. The Cytogenetics Lab at UNC Health performs prenatal, postnatal, and cancer cytogenetic testing on about 5,000 cases every year and you have the opportunity to perform conventional cytogenetics, F

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