DNA Today: A Genetics Podcast

#256 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 2

This is the second half of our conversation about an important topic in genetic counseling that is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.
Before you listen to this episode please listen to the first part of the discussion on Episode #255.
Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 
Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 
On This Episode We Discuss:
How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 
Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles
Creating awareness, especially for prospective and current GC students, within the genetic counseling community about the potential for burnout and the importance of mental health
Advice for current genetic counselors who may be experiencing burnout or contemplating a career change
Hopes for the future of genetic counseling and how it can continue to positively impact patients and practitioners alike
While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into info@DNAtoday.com and we will forward your message to them directly. 
Stay tuned for the next new episode of DNA Today on October 6th. New episodes are released every Friday. In the meantime, you can binge over 255 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 X, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#255 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 1

Over the next two episodes, we are discussing an important topic in genetic counseling that definitely is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.
Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 
Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 
On This Episode We Discuss:
Tiana’s and Nira’s journeys to becoming genetic counselors and the most rewarding aspects of their roles  
Factors that can contribute to GC burnout
Challenges our guests faced while working in clinic and non-direct patient setting and how did they impacted their mental health
Strategies and resources to help cope with burnout and support to address mental health concerns in the GC field
How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 
Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles
While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into info@DNAtoday.com and we will forward your message to them directly.
Be sure to check out our social media channels for details to enter our giveaway of artwork from Nira! 
Stay tuned for the next new episode of DNA Today on September 29th, 2023 where we’ll be continuing our conversation with Tiana and Nira on genetic counseling burnout! New episodes are released every Friday. In the meantime, you can binge over 255 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. 

#254 Bardet Biedl Syndrome with The Alms

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. 
It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles.
In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder.  People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. 
We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. 
This interview explores…
Basics of Bardet Biedl Syndrome (BBS)
What their OB/GYN discovered 
Meeting with prenatal genetic counselor
Testing during pregnancy and after birth
Sequence of tests leading to BBS diagnosis
When and how they learned about the condition
Coping with the diagnosis news
Timing of Everett's BBS diagnosis
Outlook for quality and length of Everett's life
Everett's current quality of life and symptoms
Experience with seizures, onset, and medication
Vision loss, adaptation, and legal blindness
Dealing with obesity or insatiable hunger
Participation, goal and outcome of the clinical trial
Surgeries for extra fingers and toes
Everett's current status as a teenager
Additional symptoms developed since childhood
Remaining BBS symptoms not experienced by Everett
BBS community, connections, and resources
Advice for parents of undiagnosed diseases
 
This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website. 
 
Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 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. 
 

#253 Inborn Errors of Immunity with Felicia Morton and Torry Howell

In this episode we are discussing inborn errors of immunity, with a particular focus on chronic granulomatous disease (CGD). Joining us for this episode is rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell. 
 
Felicia Morton, is the Founder and Executive Director of the CGD Association of America. Felicia has been a well-known advocate for the CGD community for more than a decade armed with her family’s personal experience. 
 
Torry Howell, is a clinical genomic liaison at Blueprint Genetics. She received her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas.
On This Episode We Discuss:
Inborn errors of immunity (IEIs) and types of conditions that fall under this umbrella term
Genetic testing for IEIs and how earlier diagnosis can impact a patient’s treatment decisions
Chronic granulomatous disease (CGD)
Felicia’s personal experience as a carrier of CGD and parent of a son with CGD
Stem cell treatment for CGD
The importance of collaboration between patients, caregivers, advocacy groups, and medical experts in improving the lives of those affected by CGD and IEIs
 
Important links and resources mentioned during the episode:
NIH’s Division of Allergy, Immunology, and Transplantation
CGD Association of America
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee 
 
Stay tuned for the next new episode of DNA Today on September 15th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 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. 

#252 Pierre Robin Syndrome with Corinne Merlino

This episode was originally recorded for It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins this podcast as a guest host especially when there will be genetic topics, like in this episode. 
 
This episode was extra special as DNA Today’s Communications Lead Corinne Merlino was the guest! Corinne was also a guest on Episodes 245 and 246 where we answered listener’s questions about the genetic counseling graduate school application process. This was recorded in NBC Universal’s Stamford Studios so we recommend watching it on YouTube! 
 
Corinne was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling.
 
Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients. 
 
In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania.
 
During the episode we mentioned Philly Phaces and the book and film Wonder. 
 
Stay tuned for the next new episode of DNA Today on September 8th where we will discuss inborn errors of immunity with a Blueprint Genetics clinical genomic liaison, Torry Howell and the Founder and Executive Director of the CGD Association of America, Felicia Morton. 
 
New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Episodes in the last three years have also been recorded with video which you can watch on our YouTube channel.  
 
DNA Today is hosted and produced by Kira Dineen. Our Communications 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 is Ashlyn Enokian.
 

#251 Diversifying Genetic Research with 23andMe

Currently, an overwhelming number of DNA samples used for research are from people of European ancestry, making many populations from across the globe underrepresented in genomics research. (NHGRI) In this episode, we explore an important issue in healthcare, diversifying genetic research, with two experts from 23andMe
 
Dr. Ruth Tennen is a product scientist at 23andMe. In this role Dr. Tennen develops new genetic health reports with the goal of helping 23andMe customers access, understand, and benefit from the human genome. Before joining 23andMe, she served as a science policy fellow at the State Department, helping promote science education and entrepreneurship in Africa, and as a lecturer at Stanford, teaching courses on experimental design, bioethics, and cancer. Ruth loves learning about and talking about science, and throughout her career, she has worked to inspire budding scientists by mentoring and teaching students at local schools, hospitals, and museums. Ruth received her bachelor's degree in molecular biology from Princeton and her Ph.D. in cancer biology from Stanford.
 
Dr. Anjali Shastri is a Senior Program Manager at 23andMe. A research scientist by training, she manages programs that increase access to genetic testing, improve representation in genomic studies, and further impactful genetics research (like 23andMe's 1 million-participant COVID-19 Study), so that more people can benefit from 23andMe's health and ancestry products, services, and research. Previously she worked at the U.S. Department of State, Department of Health and Human Services, and the National Academy of Sciences, advancing science-based policies and coordinating global health projects. Anjali received her PhD in Immunology from Stanford University where she was a Diversifying Academia and Recruiting Excellence fellow and National Science Foundation graduate research fellow. Throughout her training and career, Dr. Shastri has led efforts to improve representation and health outcomes for all people.
On This Episode We Discuss:
Changes in recent years with the diversity in genetic research
The importance of increasing the amount of diversity in genetic research and the impact it can have on improving healthcare outcomes 
Roles that genetic testing and personalized medicine can play in addressing health disparities among different populations
23andMe’s collaboration with Morehouse School of Medicine, the first such collaboration between a genetic testing company and a Historically Black Medical College (HBMC), and how it aims to improve diversity in genetic research specifically for sickle cell disease
Challenges faced in expanding diversity in genetic research, and how is 23andMe working to overcome them
Goals of the African American Sequencing Project
Information included in 23andMe’s sickle cell screening report and challenges and considerations when it comes to providing genetic information related to sickle cell disease when it’s direct-to-consumer 
23andMe’s goals and initiatives for diversifying genetic research and improving healthcare outcomes for all populations
 
Links to studies, websites, and press-releases mentioned in this episode:
Press release: Morehouse School of Medicine, Sickle Cell Foundation of Georgia and 23andMe Launch Sickle Cell Carrier Status Awareness Program 
The U.S. Public Health Service Syphilis Study at Tuskegee
Low LDL and PSK9 study
Georgia Sickle Cell Disease Foundation
 
DNA Today Episodes related to diversifying genetic research and mentioned in episode:
#214 2022 Genetics Wrapped with Eric Green
#117 Dr. Janina Jeff on African Genomes
#34 Henrietta Lacks (HeLa cells)
 
Stay tuned for the next new episode of DNA Today on September 1st, 2023 where we’ll be sharing an episode of It Happened to Me podcast featuring our Communications Lead Corinne Merlino, who shares her experience of having Pierre Robin Syndrome, just in time to in honor of the condition’s awareness day! 
 
New episodes of DNA Today are released every Friday. In the meantime, you can binge over 250 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. 
 

#250 Orphan Black: The Next Chapter with Madeline Ashby

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter. In our conversation we will dive into some of the genetic concepts explored in the show. Warning there will be spoilers for both the TV show and the podcast!!!
 
Madeline Ashby (she/her) is an author among many other creative roles and talents. She graduated from the first cohort of the M.Des. in Strategic Foresight and Innovation programme at OCADU in 2011. It was her second Masters degree. (Her first, in Interdisciplinary Studies, focused on cyborg theory, fan culture, and Japanese animation!) Since 2011, she has been a freelance consulting futurist specializing in scenario development and science fiction prototypes. Her work has appeared in BoingBoing, Slate, MIT Technology Review, WIRED, The Atlantic, and many other notable places. She penned a trilogy of novels starting with vN: The First Machine Dynasty along with other books. Check out her IMDb profile for more info.
 
She is also a writer on our host Kira Dineen’s favorite science fiction podcast of all time: Orphan Black: The Next Chapter. Orphan Black is a thought-provoking sci-fi thriller that explores a world of clones. The main character Sarah runs into someone who looks like her twin, and Sarah figures out she is actually her clone. The story takes off from there of Sarah discovering she is just one of many genetically identical clones, each with their own unique personality and skills. They all navigate a treacherous web of deceit, corporate intrigue, and scientific experimentation. The show ran for 5 years between 2013-2017 before the podcast spinoff was announced. 
On This Episode We Discuss:
The motivation behind continuing the Orphan Black story in podcast format
How the show explores the issue of genetic privacy and the downstream effects on relatives of the clones and real-world considerations in genetic data sharing and data privacy
How plausible the idea of bio weapons and designing viruses to attack specific individuals based on SNPs, touched on in the show, is in reality and the ethical implications
Ethical violations explored in the podcast including uninformed, forced vaccination, and how they parallel real-world bioethical concerns
Storing genetic data in the podcast and tv show versus the real-world
 
We talked a lot about science fiction on this episode, but we wanted to share some exciting developments in the real-world of genetic research that could allow same-sex couples to share biological children someday:
TIME: Get Ready for Embryos From Two Men or Two Women
NPR: Startup aims to make lab-grown human eggs, transforming options for creating families 
 
Stay tuned for the next new episode of DNA Today on August 25th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 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.

#249 Men in Genetic Counseling

In this episode we are joined by two genetic counselors to explore the experience of being a male in our field. 
 
John Zimmerman, MS, CGC, is a certified genetic counselor at UT Southwestern Medical Center. John completed his genetic counseling training at the University of Minnesota in 2017 and has since worked as a clinical genetic counselor with the UT Southwestern Cancer Genetics Program. Recently, he has taken on the additional role of Director of Fieldwork for the UT Southwestern Genetic Counseling Program.  John is an active member of the National Society of Genetic Counselors, serving on the Access and Service Delivery Committee. He is also the current president of the Texas Society of Genetic Counselors. 
 
Daniel Riconda, MS, CGC, (he/him) is a certified genetic counselor and Associate Professor at Baylor College of Medicine (BCM) in Houston, Texas who received his M.S. in Genetic Counseling from Sarah Lawrence College in 1988. He obtained certification by the American Board of Medical Genetics in 1990 and became certified as a founding member of the American Board of Genetic Counseling in 1993. He is also a certified Resolve Through Sharing (RTS) bereavement counselor. In 2016 he joined the Department of Molecular and Human Genetics at BCM and School of Health Professions to lead the coordination, design, and development of a Master of Science Genetic Counseling program and is now serving as the Program Director. He has been serving as a project manager of Consultagene, an online tele-genetic counseling and educational resource at BCM, since 2016. He currently sees patients for cancer genetic counseling in the Adult Genetics Clinic at BCM. He has served as an At-Large Board member for the NSGC BOD (2015-2016) and has previously served as a member of that organization’s ethics committee, public affairs committee and co-chair of their subcommittee on licensure. He served a 5 year term (2002-2006) as an (elected) board member of the American Board of Genetic Counseling (and as chair of the Accreditation committee for 3 years), served as the program services committee chairperson for the Florida March of Dimes, and has served on both the Florida & Texas public affairs committees for the March of Dimes. In 2010, he was selected as one of nine-videotaped “Master Genetic Counselor’s” for training videos that were distributed to all of the Genetic Counseling training programs across North America. He has been actively involved in genetics education and licensure activities at the local, state and national level. He is currently an invited member of the ASHG Membership Engagement Committee, is a member of the ACGC Standards Committee, and served on the Association of Genetic Counseling Program Directors (AGCPD) DEI Committee. In 2022 he received a Norton-Rose-Fulbright Faculty Excellence Award for Educational Leadership. Prior to joining Baylor, he developed and coordinated prenatal, pediatric, specialty clinics and oncology related genetic counseling services at Winnie Palmer and Arnold Palmer Hospitals in Orlando, Florida for more than 2 decades.
On This Episode We Discuss:
Navigating a profession that is predominantly female as male genetic counselors
Unique perspectives and contributions that male genetic counselors bring to the field, and how it benefits patients and the overall genetic counseling profession
Challenges and stereotypes our guests have faced as male genetic counselors and how they’ve addressed or overcome them
How the percentage of male genetic counselors has changed over the years
Steps that can be taken to encourage more men to enter the genetic counseling field and to support their growth and success once they are part of the profession
Advice for men considering a career in genetic counseling or those who have recently entered the profession
How male GCs are impacting the average salary
How our guests see the role of male genetic counselors evolving and contributing to the advancement of the genetic counseling field
 
Links to resources and references we mentioned in this episode:
Minority Genetics Professional Network (MGPN)
NSGC's Professional Status Survey
Chen A, Veach PM, Schoonveld C, Zierhut H. Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession. J Genet Couns. 2017 Oct;26(5):948-962. doi: 10.1007/s10897-017-0071-1. Epub 2017 Mar 14. PMID: 28289854.
Kopesky JW, Veach PM, Lian F, Leroy BS. Where are the males? Gender differences in undergraduates' interest in and perceptions of the genetic counseling profession. J Genet Couns. 2011 Aug;20(4):341-54. doi: 10.1007/s10897-011-9365-x. Epub 2011 Apr 20. PMID: 21505919.
Barnett, C., Myers, M. F., Spaeth, C. G., Pilipenko, V., & Bucheit, L. A. (2020). The gendered pay gap in genetic counseling. Journal of genetic counseling, 29(2), 182–191. https://doi.org/10.1002/jgc4.1236.
 
Stay tuned for the next new episode of DNA Today on August 18th, 2023 for our 250th episode featuring a writer from Kira’ favorite tv show/podcast! New episodes are released every Friday. In the meantime, you can binge 250 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. 

#248 Ornithine Transcarbamylase (OTC) Deficiency

In this episode we are learning about Ornithine transcarbamylase (OTC) deficiency, an X-linked genetic disorder that prevents the breakdown and excretion of ammonia. 
When ammonia builds up in the body, it can rise to toxic levels where it affects the central nervous system. This allows ammonia to accumulate in the bloodstream, rising to toxic levels where it affects the central nervous system. OTC is the most common of the urea cycle disorders.
We are joined by three OTC experts with professional and lived experience! Dr. Aimée Dudley is a Senior Investigator at the Pacific Northwest Research Institute (PNRI). Her laboratory performs genetic research that is used to aid variant interpretation. Dr. Andrea Gropman is the Principle Investigator of the Urea Cycle Rare Disease Consortium (UCDC) and the Division Chief of Neurodevelopmental Pediatrics and Neurogenetics at Children’s National Hospital. Tresa Warner provides her personal experience and shares her insight as the mother of a child with OTC deficiency. She also serves as the president of the National Urea Cycle Disorders Foundation. 
 
Aimée Dudley, PhD, is a Senior Investigator and the Director of Educational Outreach at PNRI. She earned her BS in biochemistry and molecular biology from the University of Massachusetts at Amherst and her PhD in genetics from Harvard Medical School. Dr. Dudley was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School. In addition to her roles at PNRI, Dr. Dudley is a scientific advisor to FenoLogica Biosciences, a scientific instrumentation company founded based on technology developed in her lab. She serves as an Associate Editor at PLoS Genetics. Dr. Dudley also co-chairs the Washington Research Foundation’s Postdoctoral Fellowship Selection Committee. As PNRI’s Director of Educational Outreach, she partners with community groups to bring high school and undergraduate students from underrepresented communities to PNRI to explore science as a career. She also mentors graduate students through her affiliate appointment in the University of Washington’s Department of Genome Sciences, and as a faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program.
 
Andrea Gropman, M.D., FAAP, FACMG, FANA, is Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital and a Professor of Pediatrics, Neurology, Genomics and Personalized Medicine at George Washington University. Dr. Gropman is the Principal Investigator of the Urea Cycle Disorders Consortium (UCDC) and serves leadership roles on the Rare Disease Clinical Research Network and in genetic, metabolic and neurology societies. She has published over 200 articles and reviews and contributed chapters to classic textbooks in genetics and neurology. Dr. Gropman is one of the associate editors of the classic textbook, Swaiman’s Pediatric Neurology and co-author of the textbook, X & Y Chromosomal Variations. She received her M.D. from the University of Massachusetts School of Medicine, completed a residency in Pediatrics at Johns Hopkins Hospital in Baltimore, MD and subsequent fellowships in neurology/child neurology at George Washington University and Children’s National, Washington, D.C., clinical and biochemical genetics at the National Institutes of Health, and a mini fellowship in neuroimaging and magnetic resonance spectroscopy at the Huntington Medical Research Institute in Pasadena, CA. She is board certified in neurology/child neurology, genetics, biochemical genetics and neurodevelopmental disabilities.
 
Tresa Warner is a parent of a child living with OTC and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, a non-profit organization dedicated to the identification, treatment, and cure of urea cycle disorders. The foundation was formed in 1988 by a handful of parents whose children were affected by urea cycle disorders and has since become a nationally recognized resource of information and education for families and healthcare professionals.
On This Episode We Discuss:
Urea Cycle disorders, commonalities and symptoms
OTC deficiency overview
Diagnosis and treatment of OTC deficiency
OTC deficiency and newborn screening panels
Variants of uncertain significance in the OTC gene
New potential treatments and cures of OTC deficiency
Challenges faced by people with OTC deficiency and their families and actions that people with OTC deficiency and their families can do to cope with the challenges of the disease
The role of the Urea Cycle Rare Disease Consortium in research and the National Urea Cycle Disorders Foundation in supporting people and families with OTC deficiency
 
Links we mention in the episode:
Article: The functional impact of 1,570 individual amino acid substitutions in human OTC
Press release: Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder
Website: The Dudley Lab
Website: Urea Cycle Disorders Consortium
Website: National Urea Cycle Disorders Foundation
Stay tuned for the next new episode of DNA Today on August 11th, 2023 where we’ll be joined by Dan Riconda and John Zimmerman to discuss men in genetic counseling in the third installment of our GC history series! New episodes are released every Friday. In the meantime, you can binge over 245 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.

#247 Duchenne Muscular Dystrophy: Exon Skipping

This week we are exploring Duchenne Muscular Dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. Joining us for this conversation is Dr. John Day, the director of the Neuromuscular Medicine Division at Stanford University and Carly Siskind, a board certified genetic counselor currently working with Dr. Day at Stanford. Shoutout to Sarepta for sponsoring this episode and introducing us to Carly Siskind and Dr. Day! 
 
We’re focusing on the background of DMD and exon skipping. In the near future we will continue our DMD conversation by diving into gene therapy including the newly FDA approved drug!
 
John Day, MD, PhD, is a professor of neurology and pediatrics and the director of the Division of Neuromuscular Medicine at Stanford University School of Medicine. After receiving a BA in Physics at Oberlin College, an MD at the University of Minnesota, and then a PhD in Neuroscience at Einstein College of Medicine, Dr. Day completed his clinical training in Neurology, Neuromuscular Medicine and Clinical Neurophysiology at the University of California, San Francisco.  He then became Professor of Neurology; Pediatrics; and Genetics, Cell Biology and Development at the University of Minnesota, where he also founded and directed the Paul and Sheila Wellstone Muscular Dystrophy Center.  Dr. Day has more than 35 years of experience in diagnosing and caring for patients with Duchenne Muscular Dystrophy (DMD) and related neuromuscular disorders, and in 2011, was recruited to Stanford University to establish a new comprehensive neuromuscular program.  At Stanford, Dr. Day and the neuromuscular team have been extensively involved in developing oligonucleotide treatments for DMD and Spinal Muscular Atrophy (SMA), as well as AAV Gene replacement for both disorders.  Going forward, the Stanford Neuromuscular program will build on the lessons learned in treating DMD and SMA to launch this new era of caring for patients with neuromuscular disorders.
 
Carly Siskind is a Board certified genetic counselor, working in the neurological disorders space  for almost 20 years. She received her BS in Biology, along with a teaching certificate, from the University of Michigan and her MS in genetic counseling from Northwestern University. She worked for a number of years in Detroit before following Dr. Day to Stanford in 2011 to work in the new comprehensive neuromuscular program. Carly is a Senior Genetic Counselor and Clinical Associate Professor at Stanford. She sees both adults and kids, and has been honored to be able to help people with neuromuscular disorders and watch treatments for these previously untreatable conditions come to fruition.
 
In this episode you will learn…
Background on DMD including symptoms, cause, the gene and more
How exon skipping works and how to determine patient amenability to exon skipping
About the years of post-approval studies to demonstrate the safety and efficacy of exon skipping genetic medicines
The critical role that genetic counselors can play in helping patients identify a potential therapy
The treatment option landscape for DMD has changed dramatically and now there are several precision genetic medicines (on the market or in development)!
 
For more information on how exon skipping works and to find resources like the exon map check out Duchenne.com.
 
Stay tuned for the next new episode of DNA Today on August 4th, 2023, where we’ll be discussing urea cycle disorders and specifically OTC deficiency New episodes are released every Friday. In the meantime, you can binge over 245 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.  
 
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