DNA Today: A Genetics Podcast

Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”. To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook.

Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.

Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.

Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too!

Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing.

Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal.  She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as  incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte is a Clinical Cytogeneticist from Scotland, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.

Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on  pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine.

Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering.

Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care.

Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact.