DNA Today: A Genetics Podcast

Sponsoring this cystic fibrosis series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On the third and final episode of our cystic fibrosis podcast series, our host Kira Dineen is joined by Gunnar Esiason who shares about his experience as a patient with CF. Gunnar is a cystic fibrosis and rare disease patient leader, who is passionate about early stage drug development, patient empowerment and health policy. He is a second-year MBA student at the Tuck School of Business at Dartmouth. He is also working towards a Master of Public Health degree at the Dartmouth Institute for Health Policy and Clinical Practice. His first year course work included a First-Year Project with a health insurance start-up. Prior to Tuck, Gunnar received a BA form Boston College in 2013, worked on an enteral feeding product at a medical nutrition company, and was appointed to the board of directors at the Boomer Esiason Foundation. Gunnar maintains the roles of patient advocate and director of patient outreach at the Boomer Esiason Foundation, named after his NFL quarterback father. He has consulted on clinical trial development, a real world evidence population health study, and a cystic fibrosis-specific mental health and wellness screening tool. On This Episode We Discuss: Gunnar’s diagnosis and journey with CF The anatomy of a CF care team CF awareness and treatments around the world Balancing CF with school, work, and relationships How COVID-19 had affected CF patients Connecting and interacting with people in the CF community You can learn more about Gunnar and his story on his website and check out this article reflecting back on Gunnar and Boomer Esiason’s Sports Illustrated cover. Be sure to follow Gunnar on Twitter, Facebook, LinkedIn, and Instagram. Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy! Stay tuned for the 150th DNA Today on June 18th! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

Get a shoutout on the podcast by nominating DNA Today for the Quill Podcast Awards for the “Best Health Podcast”. Share your nomination on social media and tag us. In return, we will thank you personally on the show, you can also comment on our posts on Twitter, Facebook, LinkedIn and Instagram. Nominate in this form! Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To continue our cystic fibrosis podcast series, Dr. Shuling Guo joins our host Kira Dineen, to discuss drug discovery efforts in cystic fibrosis. She is the VP of Antisense Drug Discovery at Ionis Pharmaceuticals – the leader in RNA-targeted drug discovery and development. Shuling is an Ionis veteran of over a dozen years (first and only industry job). Shuling received her Ph.D. in Molecular Cancer Biology from Duke University and had her postdoctoral training at HHMI/UCLA. At Ionis, Dr. Guo oversees drug discovery efforts in hematological, metabolic, ocular, pulmonary and renal disease areas as well as research efforts in noncoding RNA field; managing activities from target identification and target validation to the selection of human development candidate. In addition, she is involved in clinical development of antisense therapies. Her achievements include leading the research efforts for transthyretin (familial amyloid polyneuropathy, completed phase 3 clinical trial & under NDA), TMPRSS6 (beta-thalassemia and hereditary hemochromatosis, phase 1 clinical trial), and ENaC (cystic fibrosis, preclinical development). Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. It kicks off on June 2nd! Register today on Sarah Lawrence’s website to level up your resume for applications in the fall. On This Episode We Discuss: Defining cystic fibrosis (CF) How CFTR protein functions in the lung, difference in lung of CF patients Current drugs on the market for CF Research and development on a drug through Ionis Antisense medicine and how it works in the body Other respiratory diseases that could benefit from this treatment The timeline for FDA-approval and commercial availability of this drug For more information about Ionis’ new cystic fibrosis drug development (IONIS-ENAC-2.5Rx), check out their press release here. You can learn more about Ionis on their website and follow Dr. Shuling Guo on LinkedIn. Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy! Stay tuned for the next new episode of DNA Today on June 4th, 2021! We will be joined by Gunnar Esiason, patient advocate, for the third and final episode of our CF series! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development. Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To kick off this series our host Kira Dineen is joined by Bijal P. Trivedi, an award-winning journalist specializing in longform narrative features about biology, medicine, and health. She is the Senior Science Editor at National Geographic. Trivedi has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Bill Gates reviewed Breath from Salt on his blog and recommended it as one of the top five books for 2020. The book was also on the Longlist for the 2021 PEN/E.O. Wilson Literary Science Writing Award. ​ Trivedi’s writing has been featured in The Best American Science and Nature Writing 2012, National Geographic, Scientific American, Wired, Science, Nature, The Economist, Discover, and New Scientist. Her work has taken her from the Mexico-Guatemala border where she covered the use of genetically modified mosquitoes for fighting the dengue virus to the behind the scenes at Massachusetts General Hospital where she watched trauma surgeons test hypothermia to save pigs with life-threatening injuries to Moscow’s Star City where she blasted off with space tourism entrepreneurs on the “Vomit Comet” for astronaut training. She also edited the NIH Director’s Blog and, prior to that, helped launch the National Geographic News Service in partnership with the New York Times Syndicate, which she wrote for and edited. Her undergraduate fascination with biochemistry and molecular biology at Oberlin College compelled her to pursue a master’s degree in molecular/ cell/developmental biology at UCLA. Her love of writing drew her to journalism rather than to a lab bench—and to a second master’s degree in science journalism from New York University. ​ Trivedi has focused on long-form feature stories on complex scientific topics from genetic testing and art authentication to the carbon footprint of our diet and genetically modified mosquitoes. Her New Scientist story “Slimming for Slackers” won the 2006 Wistar Institute Science Journalism Award. “Life on Hold,” also written for New Scientist, won the 2005-2006 Michael E. DeBakey Journalism Award. “The Rembrandt Code,” published in Wired, was tagged “Outstanding story on any subject: Print” by the South Asian Journalists Association. Trivedi co-authored “A Guide To Your Genome” that won the 2009 National Institutes of Health “Gold” Plain Language Award. Most recently, her feature “The Wipeout Gene” was selected for The Best American Science and Nature Writing: 2012. Trivedi taught in New York University’s graduate Science, Health and Environmental Reporting Program from 2007-2012. On This Episode We Discuss: Overview of cystic fibrosis Major cystic fibrosis medical advances and “firsts in medicine” Revolutionary techniques utilized to find the cystic fibrosis gene, CFTR Original gene therapy trials obstacles Two types of CFTR genetic mutations and the effects on the protein Genetic registry to speed up clinical trials Drug research and development to treat cystic fibrosis Venture philanthropy to innovatively fund pharmaceutical research and development Want to read Breath From Salt? Enter our giveaway to win your own copy! Head over to our Twitter, Instagram, and Facebook. Stay tuned for the next installment of DNA Today’s Cystic Fibrosis Podcast Series on May 21st! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also produced 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 info@DNApodcast.com.

DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements. Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway… Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th (at DNApodcast.com under the “Resources” tab) in anticipation for DNA Today on April 25th. Join our celebrations on social media using #CTDNADay! DNA Day Podcast Recommendation: Stream Episode 46 of DNA Today that celebrates DNA Day including the history of the day, activities, and careers in genetics. Our guest on this episode is Jo Bhakdi, the founder and CEO of Quantgene. His work in machine learning, sequencing technology, and DNA extraction procedures defines the cutting edge of genomic diagnostics, early disease detection, and precision medicine. Prior to Quantgene, Jo founded i2X, an investment framework that composes low-risk Venture Capital portfolios across large numbers of technology startups. The i2X platform laid important foundations for advanced analytics in both financial and biotechnology applications, such as the Quantgene machine learning platform. Bhakdi holds a Masters in Economics and Psychology from Tubingen University, one of Germany’s leading academic institutions, with a focus on financial theory and statistics. He kicked off his career at WPP and Omnicom, where he held Strategy and Executive Director positions. On This Episode We Discuss: Overview of whole exome sequencing (WES) Technology for WES Whole exome sequencing (WES) vs whole genome sequencing (WGS) vs gene panels When to order WES Disorders diagnosed through WES Turn around time for WES results US insurance coverage and cost of WES Limitations of WES Future of WES, possibly replacing newborn screening or whole genome sequencing Learn more about whole exome sequencing here. You can check out Quantgene through their website. Stay tuned for the next new episode of DNA Today on May 7th, which launches our Cystic Fibrosis Series in honor of May being the awareness month. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

Greenwood Genetics Center’s Ray Louie and Kellie Walden join the show to discuss epigenetics. Dr. Ray Louie is an Assistant Director in Greenwood’s Molecular Diagnostic Laboratory. His background is in large scale genetic screening in model organisms and in solid tumor genetics and radiobiology. Dr. Louie is interested in the diagnosis of Mendelian disorders and in the identification of novel genes involved in neurodevelopmental delay and hydrops fetalis. Kellie Walden is Greenwood’s Director of Diagnostic Development and a genetic counselor by training. She oversees areas of growth for the labs including new test offerings and industry contracts. She also continues to be involved in marketing activities for the Diagnostic Lab. Kellie is a member of the National Society of Genetic Counselors. EpiSign is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for recognized genetic conditions. Right now, EpiSign tests for over 40 conditions that have signatures. Version 3 will be launching in the spring with even more conditions! This test was developed by London Health Sciences Centre in Ontario, and our lab at the Greenwood Genetic Center performs the bench work and the data is analyzed by the team in Canada. The National Human Genome Research Institute named EpiSign one of the 10 most significant advances in genomic medicine in 2019! On This Episode We Discuss: Defining epigenetics Epigenetic disorders (Prader–Willi, Angelman, Beckwith-Wiedemann syndrome) Testing for epigenetic conditions through EpiSign Indications to order epigenetic testing Variant of Uncertain Significance (VUS) clarification with EpiSign Current research on epigenetic conditions New versions of EpiSign Calculating biological age with epigenetics Learn more about Greenwood Genetic Center’s EpiSign here. You can also check out their incredibly popular genetic counseling visual aids. Enter our giveaway on Instagram, Twitter, Facebook, and LinkedIn to win a pair of bluetooth, noise canceling headphones from Greenwood. Giveaway ends on April 11th. Ray and Kellie showcased how complex pediatric genetics can be, so it’s understandable that people are often confused about the role genetics play in health conditions. The genetic counselors over at Advanced Tele-Genetic Counseling (ATGC) specialize in areas of genetics like pediatrics. So if you find yourself having questions about your own genetics, or want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach at AT-GC.com. You can also hear Elizabeth Turner on Episode #143 where she shares more about telehealth and what ATGC has to offer. Stay tuned for the next episode of DNA Today on April 16th, which explores whole exome sequencing with QuantGene’s Jo Bhakdi! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

This episode of DNA Today continues our mini series about telehealth in genetics. Last episode we heard from the founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, who shared her expertise in telehealth. Her company provides a scalable telehealth platform for genetic counseling services, where genetic counselors can help patients navigate through areas of genetics like genetic testing, and ultimately understand their own genetics. So if you want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach out through their website at at-gc.com, again that’s at-gc.com. In part two of our telehealth series, Orion Buske, PhD, joins host Kira Dineen to discuss genomic digital tools. Dr. Buske strives to empower patients, doctors, and researchers through new tools and technologies. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. At various times, he led the technical developments of: PhenomeCentral, the Matchmaker Exchange, PatientKind, and RareConnect. On This Episode We Discuss: Inspiration to start PhenoTips Genomic Health Records Benefits of Digital Tools for patients and providers Digital vs paper pedigrees Auto pedigree builder Speeding up the diagnostic odyssey Future of genomic digital tools Hear more from PhenoTips and our host Kira Dineen through the PhenoTips Speaker Series. This a monthly live webinar where Kira interviews genetic experts about topics and skills specifically for genetic healthcare providers. All previous installments have been recorded and are available on demand here. Stay tuned for the next new episode of DNA Today on April 2nd! We will be joined by Greenwood Genetic Center to discuss epigenetics including their unique genetic test, EpiSign. Don’t miss their bluetooth, noise cancelling headphones giveaway on our Instagram, Twitter, Facebook, and LinkedIn. New episodes are released on the first and third Friday of the month (with some bonus episodes like this one!). In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

To kick off our mini series in telehealth genetics fellow genetic counselor, Elizabeth Turner joins our host Kira Dineen. Elizabeth is the cofounder and Chief Executive Officer of Advanced Tele-Genetic Counseling (AT-GC). Elizabeth’s team, one of the first tele-genetic companies to enter the industry, provides comprehensive genetic counseling services via telemedicine. Elizabeth has practiced in the areas of oncology, pediatrics, reproductive health, and general genetics, and holds a current certification from the American Board of Genetic Counseling. Did you know most people are visual learners? That’s why visual aids are critical during genetic counseling appointments. As we explore in this show, genetic concepts can be really complex to understand, which is why the Greenwood Genetic Center created genetic counseling aids. And now their 7th edition is available, including an app for iPads. In telehealth appointments it can be incredibly helpful to share your screen with these visual aids from Greenwood, so download this vital tool for your daily practice here! We receive a lot of emails from listeners interested in genetic careers and we love connecting and providing resources. One of those is Keck Graduate Institute’s genetics programs in Southern California. KGI offers a master’s degree in genetic counseling, and a first-of-its-kind graduate program in genomic data analytics. This two-year master’s program gives students the opportunity to work side-by-side with applied life scientists and future genetic counselors while gaining hands-on experience with the technologies and information that are revolutionizing the future of medicine. Learn more about KGI’s programs by visiting kgi.edu/dnatoday. On This Episode We Discuss: Motivation to start AT-GC Initial hurdles to telehealth COVID-19’s impact on telehealth Telehealth affecting disparities in genetics Languages AT-GC offer for sessions Specialties in genetic counseling AT-GC provides Scenarios where telehealth is preferable to in person Coordinating samples for genetic testing Genetic counseling telehealth internships and rotations Future of telehealth Learn more about Elizabeth Turner and her company, Advanced Tele-Genetic Counseling (AT-GC) on their website. Stay tuned for the next new episode of DNA Today dropping next Friday (March 26th)! This will continues our mini series in telehealth genetics. The CEO of PhenoTips, Dr. Orion Buske, will be sharing his expertise on digital tools in genetic counseling. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video so you can watch the show 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 info@DNApodcast.com.

Dr. Barbara Fortini joins our host Kira Dineen, to discuss the growing career opportunities in Genomic Data Analytics. She is the Program Director for the Master of Science in Human Genetics and Genomic Data Analytics program at the Keck Graduate Institute. She also teaches their genetic counseling students. Her research interests focus on colorectal cancer, the third most common cancer in the US. Genome-wide association studies have now identified dozens of common genomic variants linked to small increases in colorectal cancer risk. Her research group seeks to identify the functional variants responsible for the increased cancer risk at GWAS-identified loci and to understand the role of these variants in cancer etiology. Previous work has shown that many functional variants lie in gene enhancer elements, leading to allele-specific gene expression of both known cancer-associated genes and novel genes. By comprehensively characterizing risk loci, her team hopes to identify additional novel genes involved in colorectal cancer and better understand the role of enhancers in gene expression in healthy and cancer cells. On This Episode We Discuss: Career paths in genetics outside of genetic counseling Defining big data in a genetic context Area of research impacted by data analytics Career opportunities in the healthcare industry Challenges in labs and pharma companies addressed by genomic data analytics Genome wide association studies (GWAS) Colorectal cancer research via GWAS Genomic data analytics vs bioinformatics master’s degrees In-demand skills for data analysts Pre-requisites to apply to master’s programs, epscally KGI Advice for students applying to programs Content and skills taught in the data analytics program Employers of alumni of the data analytics program Check out the article we mention in the episode about what you can do with a degree in data analytics. Here you can find further information about KGI’s genomic data analytics program. Stay tuned for the next new episode of DNA Today on March 19th, 2021! We will be joined by another one of our sponsors, ATGC, to kick off our telehealth series. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded in 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 info@DNApodcast.com.

Biotech titan Dr. Stan Crooke joins host Kira Dineen to celebrate rare disease month! Dr. Crooke was the Founder of IONIS Pharmaceuticals, with extensive experience in the pharmaceutical industry developing more than 20 marketed drugs. He has published nearly 500 scientific publications, edited more than 20 books, and has numerous patents. Dr. Stan Crooke is now the Founder and CEO of n-Lorem Foundation, a new San Diego-based organization with an incredible mission of developing individualized RNA targeted medicines for patients with ultra-rare diseases, and providing those treatments for free, for life. These patients have extremely unique mutations and are often only one of 30 people in the entire world to have the disease. After only one year as a foundation, they’ve already made great progress for the ultra rare community, having received 50 applications from patients with ultra rare genetic mutations. Out of those 50, they have greenlighted treatment plans for nearly 20 patients - greatly exceeding application and acceptance rate expectations. On This Episode We Discuss: Rare diseases vs ultra rare diseases Challenges treating patients with ultra rare diseases and genetic mutations Standard process and cost of drug development n-Lorem’s new approach to drug development for ultra rare diseases Antisense therapies (ASOs) n-Lorem’s charitable and scalable model n-Lorem’s relationship with IONIS Pharmaceuticals People eligible for n-Lorem’s treatments How to contact n-Lorem’s for potential treatment Drugs currently in development at n-Lorem Insight on the development of SPINRAZA® for spinal muscular atrophy Learn more about n-Lorem on their website. Check out the UConn Podcast Symposium, our host Kira Dineen will be on the interdisciplinary panel taking place on February 22nd at 4PM EST. You can register to attend for free here. UConn students will be provided a Zoom link to engage in a live Q&A. The panel will also be streamed publicly via Facebook and YouTube. Stay tuned for the next new episode of DNA Today on March 5th, 2021! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now 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 info@DNApodcast.com.

To kick off rare disease month, author Patti M. Hall joins host Kira Dineen to discuss her memoir Loving Large which chronicles her son’s rare disease diagnostic odyssey. Her life was pitched into an abyss of uncertainty when a golf ball–sized tumour was discovered in her teenage son’s head and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti’s attention shifted fully to her son, away from her relationships as well as her own career and health. Her new normal sees her step into a dozen additional roles, including nurse, researcher, advocate, risk assessor, and promise maker, while she struggles and fails to rebuild her life as a recently divorced woman. When the unthinkable strikes, parents Love LARGE. Now, Patti serves as an advocate for the rare disease community by serving as a member of the Board of Directors for AcromegalyCanada. Enter our giveaway here to win your own copy of Loving Large! For additional entries head over to our Instagram post. This episode is brought to you by Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids (such as cystic fibrosis or fragile X syndrome). Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On This Episode We Discuss: Diagnostic Odyssey “From sore knees to a brain tumor” Symptoms of gigantism Gigantism vs Acromegaly Joining the rare disease community Mother son relationship through diagnosis and treatments Filtering medical information for rare disease kids Impact of a rare disease on siblings Genetic research for gigantism Sequel to Loving Large Learn more about Patti Hall on her website and stay updated with her writing and advocacy on her Instagram. Her podcast, “Reframe your Life” addresses issues relevant to women beyond career building and child-rearing. Don’t forget to enter our giveaway for a copy of Loving Large here. You can also get extra entries through our Instagram! Continue our rare disease month celebrations with the next new episode of DNA Today on February 19th! You can also hear 20+ rare disease interviews on previous episodes of the show listed here. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.