If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com [http://dnapodcast.com/].



We are continuing our peek into the past! Last episode [http://dnapodcast.com/episodes/2023/4/28/234/-genetic-counseling-history-1st-nsgc-conference] we explored the history of the genetic counseling field with Michelle Fox and Debra Collins who shared about the first annual National Society of Genetic Counselors (NSGC) conferences [https://www.nsgc.org/conference]. In this episode we are learning about the formation of the American Board of Genetic Counseling [https://www.abgc.net/] (aka ABGC) with Ann Walker and Ed Kloza. 



Ann Platt Walker, MA, LCGC has held many leadership positions including the Founding President and Director of the American Board of Genetic Counseling (ABGC), President of the National Society of Genetic Counselors (NSGC) in 1982, and has been on the Board of Directors for the American Board of Medical Genetics (ABMG), American Society of Human Genetics (ASHG), and the American Council for Genetic Counseling (ACGC). During Ann’s career she held roles at the University of California, Irvine Medical Center including as the program director for the Master’s of Science in Genetic Counseling Program for over two decades. She has authored over 20 peer reviewed publications, 10 book chapters, and countless abstracts and presentations. Ann has been awarded many times through her impressive career including the Natalie Weissberger Paul National Achievement and Leadership Awards from NSGC.



Ed Kloza, MS, LCGC was the first genetic counselor in Maine. He helped establish clinical genetics in Southern Maine and pioneered prenatal serum screening at the Foundation for Blood Research in Scarborough, and was a member of the team from Women & Infants Hospital of Rhode Island which published the first international clinical validation study of cell-free DNA screening. He was key in the development of the genetic counseling profession including as a past president of NSGC (the first, and one of only two males elected to that position), and in helping create  the American Board of Genetic Counseling (which we are focusing on today). In 2000, Ed was honored with the Natalie Weissberger Paul National Achievement Award. Currently Ed is the genetics education consultant for the New England Regional Genetics Network (NERGN) and is an adjunct Professor at Bay Path University with their graduate Genetic Counseling program.



On This Episode We Discuss:

The ABGC versus the NSGC and which came first!

The early days of board exams

What prompted the creation of the ABGC in 1992

Challenges in forming ABGC

The origina

#235 Genetic Counseling History: ABGC Formation

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! 



Check out DNA Today Episode #101, Genetic Counseling Match Day [http://dnapodcast.com/episodes/2019/4/26/101-genetic-counseling-match-day], to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.



In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide [https://www.etsy.com/listing/1194791760/genetic-counseling-complete-study-guide?click_key=eceafab5ffdc1605ad7e14be7ae7b6b03a20895c%3A1194791760&click_sum=a3decf0e&ref=shop_home_feat_1&frs=1] and flashcards featuring the top 100 genetic conditions to know [https://www.etsy.com/listing/1341121905/flashcards-top-100-genetic-conditions-to?ga_order=most_relevant&ga_search_type=all&ga_view_type=gallery&ga_search_query=gc+genius&ref=sr_gallery-1-1&frs=1&pop=1&organic_search_click=1]. Enter on Instagram [https://www.instagram.com/p/CrbLO-DO0M_/], Twitter [https://twitter.com/DNATodayPodcast/status/1650527592213106689], and LinkedIn [https://www.linkedin.com/posts/kiradineen_geneticspodcast-genetics-genetic-activity-7056293068718632960-ZiFm?utm_source=share&utm_medium=member_desktop] before May 2nd! You can even enter on all three to increase your chances of winning. 



Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC [https://www.linkedin.com/in/ACoAACERMG0BrvxVIf8ZQFFcxegLg4__JrMxmYA], who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101 [http://dnapodcast.com/episodes/2019/4/26/101-genetic-counseling-match-day], 111 [http://dnapodcast.com/episodes/2019/11/11/111-nsgc-2019-recap], 135 [https://dnapodcast.com/episodes/2020/11/23/135-nsgc-2020-recap], and 212 [https://dnapodcast.com/episodes/2022/11/20/212-nsgc-recap-2022].



Can’t wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023 [https://r20.rs6.net/tn.jsp?f=001jS4ylnGMTViUgR-MPqmlqxYEvNYlG3OmsgxpL8cmTlqK1t9L-fda_w2y9In9igPapWqyCZ5BsUpNXNhuXpC5tYcYjd0UXut-mtYoIuiSjXyhHkrHP83fu5gfi1JmxxSWA3UnuXOROjpTDWD0KQll4tuukpGOvXqB6O3_4i32R93-D9A_yS_HJJcqUTUiGUj4PLaN-FAbWRuaY9KpaFUWogtTBxQemgqghQGiPHPg_FDo9aI9yFTXtjPKAshBmcrB&c=kr0f_-CuUsPlzSPRmf80NjCR9uzq_5ETSE4ZUvPV1z8rVmf0COs3tw==&ch=tHZzmHyn_nTUMhKq9aJEH9oKzlos5bDirJE7UNMBhYNxnM8tTm6PqA==]. 



—---------------------------------------------------------------------------------------------------------------------------



We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins!

#234 Genetic Counseling History: 1st NSGC Conference

We are officially launching our Patreon [https://www.patreon.com/dnatodaypodcast] next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then [https://www.patreon.com/dnatodaypodcast]! 



As a prenatal genetic counselor, our host, Kira Dineen, is very intrigued to learn all about the new advances in non-invasive prenatal screening or NIPS. To see what’s new in at-home NIPS we are joined by experts from Juno Diagnostics [https://www.linkedin.com/company/junodx/] (JunoDx), Katie Sagaser and Allison Rodgers!



Katie Sagaser [https://www.linkedin.com/in/katiesagaser/] is the Director of Genetic Counseling at Juno Diagnostics. Katie’s team provides telehealth, prenatal genetic counseling services for patients undergoing Juno’s Hazel™ Non-Invasive Prenatal Screen – the first at-home, capillary-based NIPS for fetal aneuploidy. Prior to joining JunoDx, Katie was an assistant professor of Gynecology & Obstetrics in the Division of Maternal Fetal Medicine at the Johns Hopkins University School of Medicine. Katie’s professional interests center on equitable access to genetic testing and access to comprehensive reproductive health care throughout the lifespan. Most recently, she was the lead author on NSGC’s Practice Guidelines for Expanded (Equitable) Carrier Screening. A member of both the Society for Maternal Fetal Medicine Reproductive Health Advisory Group and NSGC's Public Policy Committee, Katie is also actively engaged in public policy work surrounding reproductive health and genetics. At Juno, Katie is passionate about using social and digital media to scale access to high-quality information on genetics and reproductive medicine.



Dr. Allison Rodgers [https://www.linkedin.com/in/allison-rodgers-1b538690/] is a double board-certified OB-GYN and fertility doctor. She is currently the Director of Education at Fertility Centers of Illinois, a US Fertility Practice; additionally, she serves on the Clinical Advisory Board for Juno Diagnostics. Dr. Rodgers' personal experiences with secondary infertility and pregnancy loss inform her unique insights into reproductive medicine, contributing to compassionate and individualized patient care. She is published in top medical journals covering endometriosis, tubal factor infertility, in vitro fertilization, and donor sperm. Her special interests include in-vitro fertilization, endometriosis, polycystic ovarian syndrome, unexplained infertility, recurrent pregnancy loss, premature ovarian insufficiency, LGTBQIA+ fertility, reciprocal IVF, and transgender fertility. She completed her residency at Case Western Reserve-Metrohealth Medical Center Cleveland Clinic, followed by a fellowship at the University of Texas Health Science Center in San Antonio. You may recognize Dr. Rodgers from Tik Tok [https://www.tiktok.com/@dr.allison.rodgers?lang=en] and Instagram [https://www.instagram.com/dr.allison.rodgers/?hl=en] where she shares fertility education with more than 1.3 million followers!

#233 At-Home Non-Invasive Prenatal Screening with Juno Diagnostics

We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here [https://forms.gle/BAHoTyCACSgsXtW78]. Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon. 



On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field. 



My guest today is a fellow genetic counselor entrepreneur, Matt Tschirgi [https://www.linkedin.com/in/matt-tschirgi/]! Matt (he/him) performs contract work through his company, Genetix Consulting, LLC [https://www.genetixconsulting.ca/], in addition to being employed at a commercial lab. He has more than 15 years of combined experience in clinical and industry genetic counseling. Matt’s professional interests include prenatal genetics; academic and industry partnerships; and professional issues such as continuing education, multi-state licensure, and incorporating genetic counseling assistants in both clinical and industry settings. He earned his BS degree from Washington State University, and his MS in genetic counseling from University of Texas Health Science Center at Houston. 



Last year, Matt put a call out on Twitter [https://twitter.com/Matt_Tschirgi/status/1596935817603452928] and LinkedIn [https://www.linkedin.com/posts/matt-tschirgi_genechat-activity-7002702572880875520-fxQu?utm_source=share&utm_medium=member_desktop] to fellow genetic counselors who are entrepreneurs to share their experiences for a student lecture he was putting together. This call generated a lot of interest and tons of responses, many of which we’ll be discussing in this episode!



On this episode we discuss:

The origin of LLC Genetix Consulting and the services they offer

Genetic counseling skills that are transferable to being an entrepreneur

Charging as an entrepreneur in genetics (fee ranges and payment models) 

Types of services that people provide (i.e., medical writing and editing, project management, variant curation, career/life/personality coaching, and more!)

Challenges that people have faced

What people love most about their businesses

Advice on getting your business started!



If you’re interested in learning more about entrepreneurship and consulting in genetic counseling, we highly encourage you to follow Matt on Twitter [https://twitter.com/Matt_Tschirgi], and check out these slides.



Stay tuned for the next new episode of DNA Today on April 21st, 2023 where we’ll be discussing at-hom

#232 Entrepreneurship in Genetics with Matt Tschirgi

Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. [https://forms.gle/EosfmoUSc5Cw1sym6] It only takes 60 seconds to fill out. Thank you SO much!!



In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout Podium [https://hello.podium.page/]) to write this content. 



We discuss the rise of AI chatbots like ChatGPT and BioGPT and their potential to transform healthcare and the genomics industry by assisting humans in interpreting vast amounts of genetic data. We delve into the importance of using AI-powered tools like ChatGPT to enhance our understanding of genomic data while maintaining privacy, and we discuss The Family Vault, which helps parents maintain ownership and control of their babies' genomic data. We also explore the challenges of implementing AI solutions in the clinical genomics industry, focusing on the importance of data provenance, quality, and privacy. Join us as we examine the future of data management in a hybrid world of centralized and decentralized databases, and learn about the exciting developments in the world of genetics.



Daniel Uribe is the father of a rare disease child. He is an expert in cybersecurity, data laws, non-fungible tokens (NFTs) and genomics. Daniel is the inventor of BioNFTs to tokenize revocable digital rights over human biosamples and derived biodata based on data privacy laws to enable ethical AI training in genomics and healthcare.



Top 10 Keypoints:

AI chatbots like ChatGPT and BioGPT are transforming healthcare and genomics by assisting humans in interpreting vast amounts of genetic data.

AI policies and regulations, such as the AI Bill of Rights, are being proposed to ensure responsible and ethical AI systems in healthcare and genomics.

Data used to train AI must be accurate, properly presented, and free from bias to avoid producing misleading or harmful results.

AI-powered tools like ChatGPT can help individuals explore their genomic data while maintaining privacy and control over their genetic information.

The Family Vault enables parents to maintain ownership and control of their babies' genomic data while collaborating with researchers in federal programs.

Data provenance, quality, and privacy are essential when implementing AI solutions in the clinical genomics industry.

A hybrid world of centralized and decentralized databases is emerging for data management in genomics, with a focus on digital hygiene and controlled access to sensitive genetic information.

Creating sub-datasets and limiting access to relevant data for specific purposes can help

#231 ChatGPT and AI In Genetics with Daniel Uribe

As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey [https://forms.gle/EosfmoUSc5Cw1sym6] that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years. 



My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially  in relation to companion diagnostic tests and pharmacogenetics in oncology. 



Dr. Jamie Fettig [https://www.linkedin.com/in/jamiefettig/] is the Founder and CEO of TruGene Diagnostics, which is eliminating variants of unknown significance - especially  in relation to companion diagnostic tests and pharmacogenetics in oncology. He graduated from Palmer University. Dr. Fettig previously worked in private practice and then transitioned into manufacturing and selling medical equipment. He also worked as a coach and trainer to fellow doctors. 



On This Episode We Discuss:

Defining variants of unknown significance (VUS), pharmacogenetics and companion diagnostics

What TruGene Diagnostics does

The GiggaAssay

How knowing if a breast cancer is HER2+ can help inform medications that people should be prescribed

VUS in HER2 Tyrosine Kinase Region

What people should do if they get HER2+ cancer or their doctor wants to do a biopsy thinking it might be HER2+

How cancer survival rates are impacted by utilizing precision medicine approaches with drugs

How TruGene Diagnostics’ test differs from other PGx tests or Precision Meds

How pharmacogenomics can increase the efficacy of clinical trials





Check out Dr. Fettig’s papers:

Heligenics: fulfilling the promise of the functional genome to enable precision medicine [https://www.nature.com/articles/d43747-023-00014-2] (March, 2023)

Data Supporting a saturation mutagenesis assay for Tat-driven transcription with the GigaAssay [https://www.sciencedirect.com/science/article/pii/S2352340922008472] (September 2022)

GigaAssay – a high-throughput assay system for molecular functions and cell processes [https://www.researchsquare.com/article/rs-708936/v1] (July 2021)



Check out DNA Today Episode 134 [http://dnapodcast.com/episodes/2020/11/6/134-dr-kat-arney-on-cancer-evolution] that Kira mentioned during this episode; it’s with guest Dr. Kat Arney about cancer evolution. You can also stream other episodes about pharmacogenomics including

#230 Cancer Pharmacogenetics with Dr. Jamie Fettig

We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey [https://forms.gle/BAHoTyCACSgsXtW78]. By filling out the survey [https://forms.gle/BAHoTyCACSgsXtW78] not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more. 



This week we’re chatting about an emerging area of genetics, pharmacogenomics! Pharmacogenomics [https://nigms.nih.gov/education/fact-sheets/Pages/pharmacogenomics.aspx#:~:text=Pharmacogenomics%20(sometimes%20called%20pharmacogenetics)%20is,best%20suited%20for%20each%20person] (PGx), one of the core elements of personalized medicine, is a field of research that studies how a person’s genes affect how they respond to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. 



Joining us for this conversation is Avni Santani [https://www.linkedin.com/in/avni-santani-54965056/] PhD, FACMG, Chief Medical Officer of Veritas Genetics [https://www.veritasgenetics.com/], a LetsGetChecked company [https://www.letsgetchecked.com/?--&imp=cpc&lgc_code=BUNDLE30&lgc_saving=30&utm_medium=cpc&utm_source=google&utm_campaign=US%20-%20National%20-%20EN%20-%20All%20-%20All%20-%20Brand%20-%20Search%20-%20TROAS&gclid=Cj0KCQjwwtWgBhDhARIsAEMcxeCF6koj4Aeqtdozzi1zEAjalQ0_QSu8Fx_4kYLDosJD20a9PsD4SxcaAo9CEALw_wcB], which delivers tailored at-home healthcare solutions to 300+ organizations. Dr. Santani holds a Master’s degree in Medical Molecular Genetics from the University of Aberdeen and a PhD in Genetics from Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics from The Children’s Hospital of Philadelphia (CHOP).



On This Episode We Discuss:

Pharmacogenomics and other similar terms

The state of genetic testing today and how it has changed in the last ten years

Why it is helpful to have pharmacogenomic testing information when figuring out the best drugs to prescribe

Steps of drug metabolism that gene variants can affect

How gene variants can impact the drug response (drug reception, uptake, and breakdown)

If testing can provide information on the dosage of drugs to prescribe and how this varies between people

Types of conditions/diseases where genetic testing results can be applied (behavioral health, cardiovascular health, and pain management) 

The role of testing in determining personal risk levels of becoming addicted to pain medications

Genes that LetsGetChecked’s myPGx test [https://www.letsgetchecked.com/mypgx/?ref=letsgetchecked-blog.ghost.io] analyzes

The frequency at which gene variants found through this testing he

#229 Pharmacogenomics with Avni Santani

Our guest today is Divya Ramachandra, [https://www.linkedin.com/in/divya-ramachandra-3978b249/] who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.



Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212 [http://dnapodcast.com/episodes/2022/11/20/212-nsgc-recap-2022]). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution.



On This Episode We Discuss: 

Symptoms of T13/T18

Signs on ultrasound that a pregnancy may have T13/T18

Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18

Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.) 

Moral distress and how to process this with patients

Why we should we shift our conversations from lethal to life-limiting

The term “quality of life”

How the health and survival of people with T13/18 has changed over the years

Most common causes of death for babies with T13/18

Interventions that can alter a baby’s survival

Postnatal care conferences and other resources

The chance to have another pregnancy with T13/18

 

Stay tuned for the next new episode of DNA Today on March 24th, 2023, where we’ll be discussing pharmacogenomics with Dr. Avni Santani! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts [https://itunes.apple.com/us/podcast/dna-today-a-genetics-podcast/id1209263436?mt=2], Spotify [https://open.spotify.com/show/2TbRJMsOOeUTphJTqIYc6E?si=L-TO3D2HRJquTp1fCiVBbg], streaming on the website [http://dnapodcast.com], 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 [https://www.youtube.com/channel/UCj5c3YSE2zMDaP4ATMrvKbg?view_as=subscriber].  



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 [https://twitter.com/DNATodayPodcast],

#228 Trisomy 13 and Trisomy 18 with Divya Ramachandra

In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne.



Dr. Louise Rodino-Klapac [https://www.linkedin.com/in/louise-rodino-klapac-ph-d-ba419a6b/] is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics [https://www.sarepta.com/] who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy!



Livija Medne [https://www.linkedin.com/in/livija-medne-57a0881/] is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP.



On This Episode We Discuss:

Limb-girdle muscular dystrophy (LGMD)

Which muscles are typically are affected first 

Symptoms that individuals with LGMD experience and when symptoms usually start

The prevalence of LGMD compared to Duchenne Muscular Dystrophy

How people are diagnosed with LGMD

Why genetic testing is important to determine specific subtypes of LGMD

Gene therapy programs for the most common subtypes

The goal of the gene therapy

When FDA-approval for LGMD gene therapy can be expected 

How patients can gain access to the gene therapy program and how health care providers can refer patients

Busting myths about LGMD 



If you’d like to take a deeper dive after listening to today’s episode, follow these links to learn more about limb girdle muscular dystrophy [https://www.sarepta.com/disease-areas/limb-girdle-muscular-dystrophy], gene therapy [https://www.sarepta.com/science/gene-therapy-engine], and genetic testing for LGMD [https://limbgirdle.com/genetic-testing/]. You can also visit raregenomes.org [https://raregenomes.org/limb-girdle-muscular-dystrophy] and limbgirdle.com [https://limbgirdle.com/] to learn more! And be sure to follow Dr. Louise Rodino-Klapac on Twitter [https://twitter.com/LRodinoKlapac]!



You can also check out this installment of the PhenoTips Speaker Series [https://phenotips.com/speaker-series/genetic-counselors-in-leadership.html] to hear Kira interview Livija Medne about genetic counselors in leadership positions. 

#227 Limb-Girdle Muscular Dystrophies with Louise Rodino-Klapac and Livija Medne

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 [https://med.emory.edu/departments/human-genetics/clinical-trials/team/li-hong.html], a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde [https://www.linkedin.com/in/madhuri-hegde-68769ba/]. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics [https://www.perkinelmergenomics.com/], 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 [http://dnapodcast.com/episodes/2022/3/25/177-whole-genome-sequencing-with-perkinelmer-genomics] where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 [http://dnapodcast.com/episodes/2022/9/16/202-duchenne-musculardystrophy-with-ann-martin-and-madhuri-hegde] 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 birth

Starting with whole genome sequencing (WGS) versus exome

Other tests that are useful for babies in the NICU beyond the genome

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

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast "DNA Today" has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

***Best 2020 and 2021 Science and Medicine Podcast Award Winner***

Learn more (and stream all 180+ episodes) at DNApodcast.com. You can contact the show at info@DNApodcast.com.

DNA Today: A Genetics Podcast

Kira Dineen's Show

DNA Today is a weekly genetics podcast winning the Best Science and Medicine Podcast Award 2020, 2021, and 2022.

Kira Dineen

Shows