DNA Today: A Genetics Podcast

#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.

#225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On This Episode We Discuss:AntigensWhich antigens are screened for in UNITYAlloimmunization and who is at riskWhy learning fetal antigens is useful during a pregnancyPrevalence of and risks associated with HDFNHemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen’s NIPT for fetal antigenThe minimum gestational week blood for this test can be collectedHow providers can order both the UNITY for recessive conditions and fetal antigenThe average turnaround time for these testsLearn more about UNITY Screen’s novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links.To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor’s in molecular biology and minors in physics, computer science, and applied mathematics.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On this episode we discuss:Noninvasive prenatal testing (NIPT)What is UNITY Screen and why the name UNITY?Recessive conditions included in UNITY ScreenInformation included in a UNITY NIPT reportTest specificity and sensitivity differences between ethnicitiesHow typical carrier screening flows work differently with UNITYWhy it is helpful to have information regarding the chance a pregnancy is affected by a recessive conditionBillionToOne’s plans to include more recessive conditions in UNITY ScreenTo stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 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. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

#223 PhenoTips: Rare Disease Diagnosis Workflow

Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.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 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group.PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems.In this panel discussion, Kira Dineen, Dr. Orion Buske, and Charles Keenan address:How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflowsThe role of interoperable data in improving diagnostic outcomesThe application of structured pedigree and phenotypic data in diagnosisRecent rare disease projects across the US, UK, and CanadaThe 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 February 17th! New episodes are released every Friday. In the meantime, you can binge over 220 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

#222 Wilson’s Disease with Naseem Amin

We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior. Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions.Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University.On This Episode We Discuss:Differences in metabolism in individuals with Wilson’s disease (WD)How an accumulation of copper affects the body and body systems that are most affectedHow and when WD is diagnosedSigns that someone may have WDPathogenic variants (mutations) that have been identified in the ATP7B geneThe number of people affected by WDCurrent/standard treatment recommendations for people with WD and how Cuvrior differs from these treatmentsWhen Cuvrior, now FDA-approved, is officially launching in the USWhen it is appropriate for people with WD to start taking CuvriorLong-term studies and documented benefits of starting the medication earlier in lifeTo learn more about Wilson’s disease and find patient information, visit Orphalan's wesbite.You can also learn more about Cuprior (the name of Cuvrior in Europe with EMA approval) here.Stay tuned for the next new episode of DNA Today on February 10th! New episodes are released every Friday. In the meantime, you can binge over 220 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels

In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode!Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa.Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children’s Hospital.On This Episode We Discuss:Genetic counseling in South AfricaFactors that limit expansion of the genetic counseling field in South AfricaHow we can raise awareness in South African healthcare for genetic counselors and their services so that there is an increased amount of referralsPaying for genetic counseling consults in South AfricaRelationships with patient advocacy organizationsGenetic counseling degree programs in South Africa and how to applySam’s experience as a genetic counseling student (which she shares on her Instagram!)Job requirements of being a genetic counselor in South AfricaAvailability of genetic counseling positions and paid internshipsThe process to order genetic testing in South Africa Public sector versus private sector How they envision the field changing in the next five yearsTo learn more about genetic counseling in South Africa, check out this blog post from My Gene Counsel which features genetic counselors from South Africa as Trailblazing genetic counselors! You can also follow Sam’s Instagram account @samthegc, to learn more about the day-to-day life of a genetic counseling student in South Africa! Kira also mentioned a couple other episodes during the recording…#117 Dr. Janina Jeff (In Those Genes Podcast) on African Genomes#216 African American Ancestry with Nicka SmithShoutout to our Social Media Intern, Kajal Patel, for introducing us to Samantha Bayley and making this episode happen! Stay tuned for the next new episode of DNA Today on February 3rd, 2023 where we are kicking off our rare disease awareness month celebrations by discussing Wilson’s disease with Naseem Amin of Orphalan! New episodes are released every Friday. In the meantime, you can binge over 220 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. We are looking forward to celebrating rare disease awareness month this February on DNA Today. Our first episode will be about Wilson’s disease. The CEO of Orphalan joins the show to provide a major update on treatment for those with the condition. A new FDA approved drug!Mark your calendar for February 3rd, that’s when this episode about Wilson’s disease will drop, it will be Episode #222. Get a head start on learning at orphalan.com. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

#220 Microfluidics with Franz Pruefer

This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts.Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more!Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications. Their team is comprised of talented individuals from biotechnology, synthetic biology, engineering, chemistry, and artificial intelligence. Under Maxwerk Healthcare, they supply medical devices and consumables for hospitals in Mexico, Central America, and the CaribbeanOn This Episode We Discuss:Microfluidics overviewThe evolution of microfluidic technology over the last 4 decadesApplications of microfluidics within healthcareHow microfluidic based testing can perform single cell studiesDroplet-based microfluidicsThe cost difference between microfluidic based tests and standard testsHow microfluidics offers a unique advantage to patients who live in more remote areas of the worldApplications outside of the healthcare space (space medicine, security at airports, stadiums, etc.)Upcoming projects at MaxwerkYou can stay up to date with Maxwerk’s projects and Franz by following him on Twitter. Stay tuned for the next new episode of DNA Today on January 27th, 2023! New episodes are released every Friday. In the meantime, you can binge over 219 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

#219 It Happened To Me Podcast: Genetic Counselors for Rare Diseases

A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me. In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch! Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors’ Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT. On This Episode We Answer:When should people consider genetic counseling?Do you need a referral?Does insurance pay for genetic testing and counseling?Is genetic testing done before or after the visit? How many visits are typically involved for genetic counseling?What reproductive options do couples have?How do genetic counselors help people with genetic conditions?Why are the advantages of having genetic testing? What have you learned from interviews with patients and rare disease advocates?Do you recommend joining rare disease advocacy groups? Which ones?Why study rare diseases?What is CRISPR? How could this help with treatment of even cures of genetic conditions? What are nano-rare diseases?For more information check out the National Organization of Rare Disorders’s Rare Disease Fact sheet. Stay tuned for the next new episode of DNA Today on January 20th! New episodes are released every Fridays. In the meantime, you can binge over 220 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. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

#218 LEND Program with Betsy Humphreys, Karen Volle & Karina Mancini

Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy. Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations.Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe CollegeKarina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passion for genetics education and advocacy. Currently, she is a student in the NH-ME LEND program working on furthering her experience with the disability community, and hopes to attend a Master’s in Genetic Counseling program in the near future.In this episode we discuss:The mission of the LEND ProgramHow LEND helps people and families affected by neurodevelopmental disabilities Concepts and skills taught in LENDWho is eligible to participate in LENDThe LEND student experienceHow LEND prepares students for careers in genetic counselingUniversities that offer LEND and how students can get involvedTo learn more about LEND and how to get involved, check out their website. Stay tuned for the next new episode of DNA Today on January 13th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 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. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored) I don’t know about you, but I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David’s podcast, Papa PhD. I am a little biased, he had me as a guest back in May. The episode is titled, “Applying to Grad School in 2022 with Kira Dineen”. If you also speak French, he also does some episodes in French! I’ve enjoyed episodes about science communication, leadership, networking, science policy, public speaking skills, mentorship and more. Search “Papa PhD” in your podcast app to stream!

#217 SynGAP1 with Mike Graglia and Elli Brimble

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss:Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey Elli’s role as a genetic counselor in diagnosing SYNGAPHow SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)Sleep issues associated with SYNGAP and other symptomsThe prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the conditionLabs and organizations that have been helpful in supporting the SYNGAP communityConnecting with fellow parents/caregivers who have kids with SYNGAPThe status of SYNGAP1 research and potential treatmentsMike’s podcast, SYNGAP10You can learn more about Mike’s family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 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. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.