BoldMedicine

"What's it going to take? it all comes down to WHO can we get involved. We have to keep reminding ourselves it's not about problems, it's about solutions."

Chromosome 8p is a rare genetic condition with approximately 350 patients identified around the world and counting. In this week's episode Amit sits down with Bina Shah, Founder of Project 8p, innovator and leader in the rare disease community.

In 2018, Bina founded Project 8p to accelerate research with the goal of treatment for chromosome 8p heroes like her daughter Karina. Her family resides in New York City where Bina earned her B.S. in Finance & Marketing from NYU Stern Business School as well as her M.B.A. from Columbia University. She has over 15 years of experience in finance in the areas of mergers and acquisitions, private and public equity investing, real estate development, and property management.

 

To learn more about Chromosome 8p and Project 8p, visit: www.Project8p.org

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Amanda Moore joins us to talk about her new role as CEO of the Angelman Syndrome Foundation and her leadership within the rare disease community.

Amanda and her family live in Indianapolis, Indiana. In 2015 Amanda and her husband, Adam, adopted twin boys, Jackson and Braden. Jackson was diagnosed with Angelman Syndrome in January of 2017 and since then Amanda has made it her mission to be an advocate for all people with Angelman Syndrome.

Karen Utley, President and co-Founder of the International Foundation for CDKL5 Research speaks with Amit about what it's like to be a leader in the rare epilepsy community, and what matters most to families affected by CDKL5 Deficiency Disorder.

What makes me hopeful are the advances in science. They are exciting. There are so many things that have happened in the 10 years that I’ve been in the rare disease world that I’m shocked myself. Also, the willingness for people to help. You can share your story with people who have no connection and they are moved by it. I believe our kids change people. - Karen Utley

As we enter the season of high school prom and joining community and friends to celebrate, Autism advocate and nonprofit founder Stephanie Mishler joins our podcast and talks about applying her love of hair and makeup to peers with special needs.

College student and special needs advocate Stephanie Mishler combines her passion for the beauty industry and her connection to the Autism community to make prom an inclusive experience for every student. Stephanie reminds us that everybody has a passion to share, and it's never too early to apply it to impact a community.

"Sharing my life's passion with other people has affected my life in so many ways."

www.homebymidnight.org

We're back, and there's no better time to kick off the 2019 season of BoldMedicine. February 28th is Rare Disease Day! Throughout the month of February hundreds of patient organizations from countries all over the world will hold awareness-raising activities celebrating the rare community of patients, caregivers and advocates. We're excited to have Paul Melmeyer, Director of Federal Policy at NORD join Amit to talk about rare disease policy and the tremendous impact NORD has on the community.

Terry Jo Vetters Bichell has been the Director/Scientific Officer of the Angelman Biomarkers and Outcome Measures Alliance (A-BOM) (https://www.angelmanbiomarkers.org/about-us/) since its inception in 2016. Dr. Bichell earned a PhD in neuroscience from Vanderbilt University in 2016, studying gene-environment interactions in Huntington’s disease rodent models, but she has been involved in Angelman research since 2000, when her son, Lou, was diagnosed with Angelman syndrome.

In this episode of Bold Medicine, Terry Jo talks about her role in advancing Angelman syndrome research and what matters most to families in the Angelman syndrome community.

Becky Burdine impacts the rare disease community, the Angelman syndrome community and the scientific community in every way possible. Her approach is science driven and starts with the families in her community.

Dr. Burdine is parent to a child with Angelman Syndrome, and was a founding member and Chief Scientific Officer for the Foundation for Angelman Syndrome Therapeutics from 2008 until 2016. She also served on the Scientific Advisory Board for the Angelman Syndrome Foundation. Dr. Burdine is Associate Professor of Molecular Biology at Princeton University and currently serves as Chief Scientific Officer for the Pitt-Hopkins Research Foundation.

Also, in this episode we introduce BOLD MOVE, a new part of the program where Amit answers questions from the rare disease community.

Amit speaks with Kendall James-Davis, Senior Manager of Strategic Alliances at Global Genes, about the impact of patient involvement in discovery. Kendall talks about the remarkable team of advocates at Global Genes dedicated to supporting families affected by rare, genetic disorders. www.globalgenes.org

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Amit is joined by Sam and Alexis Maydew, parents of a child with Angelman Syndrome. The Maydew's talk about their journey as parents, advocates and leaders in the Angelman Syndrome community.

Amit talks with Hillary Savoie, Founder of The Cute Syndrome Foundation. Hillary shares her journey as a parent and rare epilepsy community leader.