DNA Today: A Genetics Podcast

This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA. Her professional career was devoted to developing and leading marketing teams at various large companies. In 2008 Lissa’s oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON). Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker. Lissa is a passionate LHON Advocate, devoted to advancing the science, educating about the disorder, and developing a vibrant, collaborative LHON community. She resides in Carlsbad, California. Devin received her Bachelor’s degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master’s degree in Genetic Counseling from the University of California, Irvine in 2017. She currently resides in Bellevue, Washington. In addition to her role at Genetic Support Foundation, Devin currently serves on the Medical Advisory Board for the GRIN2B Foundation and volunteers as the Young Adult Coordinator for the United Mitochondrial Disease Foundation. Her prior genetic counseling roles have included working at a telehealth genetic counseling company, a high-risk maternal fetal medicine clinic, a neurodevelopmental clinic, and an autism family registry. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities. On a typical Friday night, you’ll find Devin running a virtual support group for teens with mitochondrial disease – often with her Flemish giant rabbit or African grey parrot making an appearance. On This Episode We Discuss: Function of the mitochondria General symptoms that people with mitochondrial disorders experience How mitochondrial DNA impacts the inheritance pattern of mitochondrial conditions How the percentage of affected mitochondria correlates with the severity of symptoms Jeremy’s journey to a LHON diagnosis The percentage of people with the pathogenic variant for LHON that experience blindness Why people assigned as male at birth are more likely to be affected by LHON than people assigned female at birth Treatments available and clinical trials underway Devin’s diagnostic odyssey and her unique perspective as a genetic counselor/patient advocate The support group that Devin leads for teens with mitochondrial disorders To learn more about mitochondrial disorders, visit the United Mitochondrial Disease Foundation, MitoAction, and the Mitochondrial Medicine Society. You can also check out Devin’s Ted-Ed Mitochondrial DNA talk, read about mitochondrial donation, and watch this video about mitochondrial fission and fusion. To learn more about Leber Hereditary Optic Neuropathy specifically, visit the LHON website, and check out the LHON Facebook group. In this episode, we mentioned some of the support groups that Devin leads. If you have a mitochondrial disorder and want to connect to others in the community, check out the Facebook support groups for teens-20s and 20s-40s. Devin also runs a weekly Zoom support call for ages 16-35, you can register here. Be sure to check out FreshCrayons on Etsy for your own mitochondrial plushy pillow that Devin showed off in the video! And enter our giveaway for a mitochondrial sweatshirt on Twitter, LinkedIn, and Instagram. If you found this episode topic interesting, check out episode 170 for more info about mitochondrial disorders, specifically primary mitochondrial myopathy. Stay tuned for the next new episode of DNA Today on August 12th, 2022! New episodes are released on Fridays. In the meantime, you can binge nearly 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are open now for the fall cohort which starts September 12th. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Our guest this week is Dr.Tod Klingler, who is the head of product research and development at Genomic Life. Over his 25-year career, Dr. Klingler has held leadership roles with organizations that have successfully developed and commercialized innovative products including Illumina, Roche, XDx (now CareDx) and Incyte. Dr. Klingler has also founded start-up companies such as Prospect Genomics and Station X. On this episode, he shares insights from his decades long career in the industry! Disclaimer: DNA Today is sponsored by some genetic companies. You can view the full list of DNA Today sponsors at DNApodcast.com/sponsors. Since we are both US based our conversation will focus on the industry in America. On This Episode We Discuss: Changes in genetic testing trends over the last few decades The benefits of companies shifting from specializing in specific types of genetic tests to expanding into multiple areas of genetics How laws, professional organization guidelines/recommendations and insurance changes affect genetic testing labs The role of genetic counseling companies in the future Types of genetic testing (ex: Liquid Biopsies, PRS, WGS) Advice for genomic companies on best practices to become successful Recommendations for resources for people to keep up with industry changes In this episode, Tod shared some recommendations for resources for people to keep up with all of these genetic testing industry changes which you can access here: GenomeWeb, GA for GH, and Genome.gov! You can also check out the PGx legislation and HR 2144 that were mentioned during the interview. Stay tuned for the next new episode of DNA Today on August 5th, 2022 ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! This week we’re continuing our Q and A discussion on genetic counseling program apps with Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Be sure to check out part 1 of our Q and A from last week, and if you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today! Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children. Listener Questions Answered: How should you talk about low grades or GPA in your application? Do you have any advice/resources for navigating financial aid? What’s one thing you wished you did differently? What advice do you have for BIPOC applicants? Shoutout to Isabella, Hope, Emily and other listeners for submitting our discussion questions! Don’t forget to listen to part one of this conversation in last week’s episode 193. Resources that were mentioned in the episode include GOLDEN and the Minority Genetic Professional Network. Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram! Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at gcprepllc.com for 20% off. Stay tuned for the next new episode of DNA Today on July 29th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Y’all asked and we answered! Some of our most popular episodes are about the genetic counseling application process, so we are doing a QnA about it in this episode. If you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today. Our guests for this episode are Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children. Listener Questions Answered: What activities, classes stand out in applications? How much shadowing or informational interviews are an acceptable amount? What factors were important to you when you were narrowing down what schools to apply to? How common are campus visits in grad school, and how do you recommend setting one up? Advice on how to craft a personal statement? What are the different approaches? For reapplicants, how should you showcase growth between app cycles? Shoutout to Ashley, Maya, Vivian, Leah, Bernabe, Hannah, Molly, Emily, Rachna, and Crystal for submitting our discussion questions! Don’t forget to tune in next week to part two of this conversation to see if we answer your question! Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram! Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at www.gcprepllc.com for 20% off. Stay tuned for the next new episode of DNA Today on July 22nd, 2022 where we’ll continue this conversation with Janelle and Mikayla and answer more of your questions about GC program applications! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Imagine a health record system that’s actually designed for genomics, available in different languages, and complete with pedigree drawing, diagnostic insights and more. Well stop imagining and start using, because PhenoTips is nothing like your EHR, it’s the world’s most complete solution for medical genetics that captures family history seamlessly, even respectfully representing trans and queer individuals in pedigrees. Visit Phenotips.com to learn more. (SPONSORED)

Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! On Friday, June 24th, 2022, the US Supreme Court released its decision in Dobbs v. Jackson Women’s Health Organizationvoting to overturn Roe v. Wade— the 1973 ruling that guaranteed federal constitutional protections of abortion rights. In this discussion we will be explaining the abortion laws and how this decision specifically affects genetic counseling with Laura Hercher. Laura is a seasoned genetic counselor and the host of ​​The Beagle Has Landed podcast. She is also on the team at Sarah Lawrence College’s Genetic Counseling program coordinating student research, directing the ethics course and facilitating the weekly current events discussion. In the week leading up to this episode we asked our listeners to submit their questions on our social media channels, be sure to listen to see if your question was answered! On This Episode We Discuss: Trigger laws and when they go into effect The effect of this decision on pro-choice states (CT, NY, CA, etc) How this ruling disproportionately affects people who can’t afford to travel for abortions Genetic counseling in a post-Roe world and how this decision affects the field The legal ramifications for genetic counselors discussing patients’ options in abortion banned states How the overturning of Roe is going to impact pedigrees Receiving care (medication, D&C, D&E) in states that now have abortion bans How this affects pregnancies that are non-viable and people with conditions where a pregnancy is life-threatening Recommended resources/organizations for people to donate money or volunteer Following this episode, DNA Today made a donation to The National Network of Abortion Funds, which aims to remove barriers to abortion access. We encourage our listeners to do the same here. To stay up to date on the latest developments in the overturning of Roe v Wade and hear Laura’s thoughts on these issues, follow her on Twitter and LinkedIn. You can also follow her podcast, The Beagle has Landed, on Twitter and Facebook. Stay tuned for the next new episode of DNA Today on July 8th, 2022 where we’ll be welcoming Atticus Shaffer, who played Brick Heck on the ABC sitcom The Middle, to discuss his experience with Osteogenesis Imperfecta ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode. DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips’ Speaker Series, “Gender Affirming Care in Genetic Counseling”. The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein. Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients. On This Episode We Discuss: • Improving clinic experiences for transgender and gender non-conforming patients • Beyond standards: gender affirming family history collection • Challenges to providing gender affirming care in existing service delivery models • Education and advocacy in the genetics and genomics community The PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on July 1st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips. The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen! As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. 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. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group. Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss: Why it’s important to denote someone’s sex assigned at birth Incorporate same sex couples utilizing a donor or donors to concieve in pedigrees Best ways to indicate that someone is transgender on pedigrees Representing gender non-conforming or non-binary people on pedigrees Making note of family members’s pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we’ll be dropping an installment of the PhenoTips Speaker Series! The topic of this week’s series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases. On This Episode We Discuss: How propionic and Methylmalonic Acidemia affect the body PA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMA The goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA community Living with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseases If you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here. Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan’s journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram. Stay tuned for the next new episode of DNA Today on June 17, 2022, where we’ll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can’t wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics. June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine. On This Episode We Discuss: Facioscapulohumeral Muscular Dystrophy (FSHD) Types of FSHD Causes of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencing The genetic etiology of FSHD type 1 vs 2 Benefits of ordering FSHD testing through PerkinElmer Genomics Clinical trials for FSHD When the FSHD Society predicts that treatments will be available for people with FSHD To learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on June 10, 2022. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. 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. HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)