DNA Today: A Genetics Podcast

#315 Cardiac Sudden Death: Prevention via Genetics with Drs. Liebman & McNally

We explore a remarkable story of genetics, family history, and groundbreaking research with Dr. Susan Liebman and Dr. Elizabeth McNally. Together, they’ve identified a genetic mutation with life-saving implications for families affected by inherited heart conditions, like Dr. Liebman’s own.
 
Meet Our Guests:
Dr. Susan Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.
 
Dr. Elizabeth McNally directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago and is the Elizabeth J. Ward Professor of Genetic Medicine. She is a practicing cardiologist with expertise in cardiovascular genetics. As a clinician, she developed practices for integrating genetic information into cardiovascular care. She has a special interest in neuromuscular diseases like muscular dystrophy and their accompanying cardiovascular complications.
 
Episode Highlights:
- Family Medical History: Dr. Liebman shares the powerful backstory behind “The Dressmaker’s Mirror” and how a century-old family secret shaped her journey in genetic research and advocacy.
- Discovering the FLNC Mutation: Dr. McNally discusses the process of uncovering this mutation in Dr. Liebman’s family, highlighting the challenges and breakthroughs in genetic testing and the importance of tracking family medical history.
- Genetic Screening and Personalized Medicine: The guests examine the future of genetic testing, including the ethical complexities and benefits of population screening for high-risk groups, like Ashkenazi Jews, who have a higher frequency of the FLNC mutation.
- Preventive Care in Cardiology: Dr. McNally shares insights on integrating genetic data into cardiology, from identifying cardiomyopathy risks to offering personalized care for patients.
- Barriers to Genetic Testing: They address why only a small percentage of cardiomyopathy cases are referred for genetic testing and discuss ways to increase access and education around genetic testing’s role in heart health.
- The Future of Gene Therapy: Hear Dr. McNally’s outlook on gene therapy advancements for actionable genes, including the latest on FLNC’s addition to the ACMG list of actionable genes.
 
Enter Book Giveaway!
You can win a free copy of “The Dressmaker’s Mirror”! Head over to DNA Today’s social media to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon. 
 
More Info
You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent! 
 
Keep up with Dr. Elizabeth McNally on X @EMMcNally. 
References
Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, Pytel P, McNally EM. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Cardiovasc Genet. 2014 Dec;7(6):751-759. doi: 10.1161/CIRCGENETICS.113.000578. Epub 2014 Sep 1. PMID: 25179549; PMCID: PMC4270910. 
 
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370; PMCID: PMC9366660.
 
DNA Today Episode #175 Hereditary Cancer Variant Network with Brian Shirts. And our next episode will be featuring Connect My Variant’s founder Dr. Brian Shirts again! 
 
DNA Today Episode #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
 
DNA Today Episode #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
 
SecuriGene - a company that will bank your DNA. 
 
Jackson Laboratories and Northwestern Medicine’s Course “Implementing Cardiogenomics in Clinical Practice” 
 
American Heart Association 
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#314 ASHG 2024 Recap

We’re back from the American Society of Human Genetics (ASHG) 2024 Annual Meeting in beautiful Denver, Colorado! This episode recaps the highlights, discussions, and discoveries from five packed days of cutting-edge genetics and genomics science. Every year, ASHG brings together researchers, clinicians, students, and industry leaders to share advancements, and this year was no exception.
 
In this recap, our Kira Dineen reflects on the vibrant atmosphere at ASHG and shares conversations with conference attendees, each offering unique perspectives on the sessions and workshops they found most impactful. We had the chance to connect with some familiar faces, including previous podcast guests and sponsors, as well as meet new colleagues who shared inspiring insights into the future of genetics.
 
You might notice some background chatter—it captures the energy and dynamism of ASHG’s bustling exhibit hall and session rooms!
Presentations Recapped
“Mendel’s Peas as Exemplar or Exception” by Dr. Gregory Radick 
“Sickle Cell Disease: A Journey Through the Complexitites of Genetics” by Dr. Athena Starland-Davenport 
Resources
Disputed Inheritance: The Battle over Mendel and the Future of Biology By Dr. Gregory Radick
“The Genetics Podcast” By Sano Genetics (Hear Kira’s most recent appearance on Ep 134)
Science Geek Games’ Variation – A DNA Matching Card Game
NIH Small Business Funding/Grants
Episode Referrenced
#157 NSGC 2021 Recap
#191 Overturning Roe v. Wade with Laura Hercher
#284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”
#307 NSGC 2024 Recap
Fact Check
Kira estimated that Mendel was studying genetics through peas in the 1800s, and she was right. For eight years, starting in 1857, Medel studied the peas he grew in the garden of his monastery.
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#313 Becker Muscular Dystrophy Clinical Trials with Edgewise Therapeutics

Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, join the show to discuss Becker Muscular Dystrophy (Becker) and emerging treatments.
 
We dive into Dr. Donovan’s role at Edgewise and the company’s research into treatments for Becker and Duchenne Muscular Dystrophy. At the forefront of this research is sevasemten, an investigational fast myosin inhibitor designed to combat contraction-induced muscle injury, which plays a significant role in muscle deterioration for those living with Becker. 
 
Please note that sevasemten is an investigational agent that is not approved for use by any regulatory authority in any territory. All information shared in this podcast episode is intended for healthcare providers only. This episode is for informational purposes only and should not be considered professional medical advice. Always consult your doctor or qualified medical professional for any questions that you may have regarding a medical condition, procedure, treatment or trial.
 
Joanne M. Donovan, M.D., Ph.D., has served as Chief Medical Officer at Edgewise Therapeutics since 2021. Most recently, Dr. Donovan served as Chief Medical Officer and Senior Vice President, Clinical Development at Catabasis Pharmaceuticals. Since 1989, she has been a staff physician at the VA Boston Healthcare System, where she was formerly Chief of Gastroenterology. Dr. Donovan has held an appointment at Harvard Medical School since 1990, most recently as associate clinical professor of medicine. From 1998 to 2011, Dr. Donovan served in positions of increasing responsibility, ultimately as vice president of clinical development, at Genzyme, a biotechnology company, which she joined through its acquisition of GelTex Pharmaceuticals. Dr. Donovan holds a Ph.D. in medical engineering and medical physics from the Massachusetts Institute of Technology, an M.D. from Harvard Medical School and an S.B. from the Massachusetts Institute of Technology. She completed residency training in internal medicine and a fellowship in gastroenterology at the Brigham and Women's Hospital.'
Key Discussion Points:
 
Becker Muscular Dystrophy Overview: Becker is a genetic, progressive disease that leads to muscle degeneration and weakness. Symptom onset varies and can be debilitating, with patients losing muscle function over time.
The Science Behind Becker: Muscle breakdown in Becker is driven by dysfunctional dystrophin, a protein that supports muscle fibers during contraction. Without proper dystrophin function, repeated contraction-induced injury leads to muscle fiber loss and replacement by fibrosis and fat.
Edgewise Therapeutics’ Research: The investigational therapy sevasemten has shown promising results in recent trials, including stabilization of functional assessments and reductions in muscle damage biomarkers. Dr. Donovan shares how Edgewise is progressing to the pivotal Phase 2 GRAND CANYON study, which is now enrolling ambulatory adults with Becker.
 
If you are a healthcare provider with patients who may benefit from this research, you can refer them to the study through the information below. 
 
1) Contact our Edgewise team by email at studies@edgewisetx.com.
2) Have your patient go to beckergcstudy.com, where they can contact someone from patient support.
3) Or submit your contact information via beckergcstudy.com/hcp and someone will reach out to you.
 
More DNA Today Episodes on Muscular Dystrophies:
#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
  
Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program

We are learning about an exciting, newer career in the genomics field: genome health analyst. This role is rapidly gaining importance as the demand for interpreting personal genomic data continues to grow, and healthcare systems need more professionals trained to make this data clinically actionable. 
 
Joining us are Dr. Claire Davis and Anna Cantor, Co-Directors of the new Master's of Science in Genome Health Analysis program, which is a collaboration between NYU Grossman School of Medicine and Sarah Lawrence College. 
 
Claire Davis has worked with the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College for nine years in various capacities. She is now Director of Curriculum for the genetic counseling program and the Institute for Genomics, as well as co-director of the Genome Health Analysis master's program created in collaboration with NYU Langone's School of Medicine. Claire previously worked as a cancer counselor and assistant director of the genetic counseling training program at Mount Sinai. She earned her doctorate in adult education and leadership from Teachers College, Columbia University, completing a dissertation on the professional learning of genetic counselors. She continues to volunteer for initiatives related to genetic counselors' learning and development.
 
Anna Cantor is the Program Director of Genetics Education at the Center for Human Genetics and Genomics at NYU Grossman School of Medicine and co-director of the Genome Health Analysis Master’s program.. She is a board-certified genetic counselor with clinical experience in cancer and autoinflammatory genetics. . Throughout her career, Anna has trained genetic counseling students and  is now creating  education initiatives for graduate and medical students, as well as  healthcare professionals that aim to increase access to accurate genetics information throughout NYU Langone Health. Anna received her MS in Human Genetics from Sarah Lawrence College and her MA in Behavioral Neuroscience from the University of British Columbia in Vancouver, Canada. She completed her BA Hons in Psychology from Concordia University in Montreal, Canada.
 
In This Episode, We Discuss:
What motivated the creation of the MS in Genome Health Analysis program
Career opportunities for graduates in healthcare and genomics
The integration of bioinformatics, data science, and patient care in the role of a genome health analyst
How the collaboration between NYU and Sarah Lawrence College shapes the curriculum
Key courses that prepare students for real-world applications
Handling and interpreting vast amounts of genomic data
The significance of emerging ‘omics technologies and genome variant interpretation
Application tips for prospective students, including types of experiences to prepare them
Going to be at ASHG 2024? Come find Anna Cantor on November 7th with her poster from 2:30-4:30pmMT! Our host Kira Dineen will also be at the conference. So be sure to say hi if you see her. And she is recording sound bites on what you learned at the conference.
 
You can learn more about the Master's of Science in Genome Health Analysis program here. You can contact Anna Cantor directly at Anna.Cantor@NYULangone.org and Dr. Claire Davis at CDavis@SarahLawrence.edu. 
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#311 Mock Cancer Genetic Counseling Session

We're excited to announce the launch of our new Mock Genetic Counseling Session series! In our first installment, genetic counselor Catherine Mayo and student Ariel Modeste perform a mock cancer genetic counseling session, offering insight into how genetic testing for cancer risks is discussed with patients. This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 
 
We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.
 
Catherine Mayo (she/her), is a Genomic Science Liaison at a genetic testing company. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. 
 
Check out Catherine’s two other appearances on DNA Today. In Episode #110 we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. Catherine more recently shared insight in Episode #259, which was a recap and reflection on the 2023 National Society of Genetic Counselors’ (NSGC) Annual Conference. 
 
Ariel Modeste (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ariel is a graduate of LaGrange College with a B.S. in Biology and a double minor in psychological science and chemistry. The premise of this mock case was Ariel’s work as part of her internship with DNA Today. 
 
Specialty: Cancer
 
Indication: A 26-year-old unaffected female is seen due to a family history of cancer.
 
Patient Name: Estelle Woods
 
Outline:
Contracting 
Introduction to each other
Why were they referred to genetic counseling?
Explain what the session will entail
Ask if patient has any questions
Medical Intake
Family History 
Take a pedigree
Patient Education
The purpose of all the questions that were asked
Genetics overview
Hereditary cancer risk factors and signs
Risk Assessment 
Review the patient’s pedigree and explain what is suspicious and what isn’t and why. 
What you would test for in the patient
Who the best person in the family is to be tested 
Decision Making
Explain genetic testing
Explain the 3 possible results
Explain what each result would mean for the individual and their family members
Ask patient if they would like to pursue the genetic testing
Insurance and cost 
NCCN criteria
Potential insurance coverage
Cash option without insurance
GINA
Consenting
Signing consent forms
Results
Turn around time
How results are provided
Recap information and final questions
 
Stay tuned for the continuation of our mock genetic counseling session series! Over the next year we will be bringing you more mock sessions inspired by a cumulation of cases. 
Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com.
The next new episode of DNA Today will drop on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#310 Father Founded: DNA Reuniting Amerasians with Their American Bio Fathers

We explore the powerful work of Father Founded, an organization dedicated to reuniting Amerasian families separated by war. It shares the heartwarming story of Scott McMullen, a retired firefighter and veteran, who discovered his long-lost daughter through the group's efforts. Marny Klump, a dedicated volunteer, uses her skills in genetic genealogy to help Amerasians locate their biological fathers across continents.
 
I do want to offer a warning that our conversation includes sensitive topics like young adult death, sexual assault, and childhood abuse. These topics may not be suitable for children or people who have had these experiences themselves. 
 
Scott's journey involves fathering a son in the Philippines, marrying the mother to bring him to the U.S., and later learning he had another child in the Philippines and connecting with his daughter Sherlyn, who was adopted and raised in another country. Despite challenges, Scott and Sherilyn have formed a close bond, united by their shared Amerasian experience. Scott Mcmullen is a father of 6, who retired in 2020 after 40 years as a Firefighter/EMT. He served 26 years in The Air Force Reserves as a Firefighter. He was elected to and served eight years on the Mount Vernon Washington city Council. He then recruited and helped the first three Hispanic people get elected to the Mount Vernon, Washington City Council. I thought it was unfair to have no Hispanic representation when his city’s population was 36% Hispanic. He and his brother flew to the Philippines to meet his biological daughter and her family. He lives part time in Angeles city, Philippines and was honored to have attended his grandchild's wedding!
 
Marny Klump, a Father Founded volunteer, shares how she became involved in reuniting families through genealogy and DNA testing, driven by the belief that everyone has the right to know their origins. The discussion emphasizes the importance of accessing biological family history and the challenges faced in the process. Marny was born in Toronto, Canada and moved to the United States when she was 16. She and her family currently live outside of Richmond, Virginia. Marny started doing her husband’s family tree in 2014. In early 2016, she started working with a group to help people put the pieces of their puzzles together. In August 2016, she learned how to use DNA to help those with misattributed parentage locate their biological family members. In April 2020, one of those cases led her to Father Founded, where she has been volunteering to help Amerasians with their quest to know their birth fathers.
 
You can learn more about Father Founded on their website here and donate here.
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship”

Two-time Emmy-winning celebrity chef Sandra Lee joins the show. Known for her innovative “Semi-Homemade” cooking style that revolutionized how millions approach the kitchen, Sandra is not just a culinary icon but also a dedicated advocate for health and wellness. 
 
In honor or breast cancer awareness month, we chat about her courage and openness in sharing her personal battle with breast cancer, most notably through her raw and impactful HBO documentary “RX: Early Detection – A Cancer Journey with Sandra Lee,” have made her a powerful voice in the fight for early detection and cancer awareness. 
 
As if that wasn’t enough, Sandra is the creator and co-host of the new hit Netflix show, “Blue Ribbon Baking Championship”. The show has already cracked a “Top 10” list on Netflix. 
 
In this conversation, we’re diving into Sandra’s incredible journey—from her rise to fame as a beloved television personality to her deeply personal fight against cancer and her ongoing efforts to champion health causes. 
 
A note on the audio quality: As Sandra Lee mentions during the show, she was on vacation when we recorded this and her only option was to call in for the interview. So we did our best to improve her audio file, but it’s not our typical sound. 
 
During the episode we couldn’t recall the name of the dog show on Thanksgiving, it’s The National Dog Show. 
 
We also mentioned Sandra Lee’s first podcast appearance was on this episode of The Kim Gravel Show. 
 
And Sandra Lee was close, it was a 7 year old who won a blue ribbon at a county fair this summer, here’s the story. 
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#308 Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller

After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller. 
 
Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine. 
 
CMS is a group of rare inherited neuromuscular conditions caused by defects at the neuromuscular junction. While CMS shares similarities with Myasthenia Gravis (MG), it has distinct genetic causes and onset patterns that make diagnosis and treatment challenging.
Dr. Lochmüller walks us through the evolution of CMS research, highlighting the advances made possible by new sequencing technologies. Thirty years ago, only two genes were known to cause CMS; now, there are 35 identified genetic causes. This episode offers a comprehensive look at CMS symptoms, diagnostic approaches, and treatment strategies, as well as the important role genetic testing plays in accurately diagnosing and managing CMS.
Topics Covered in This Episode:
Dr. Lochmüller’s Background and Expertise: How his work in CMS has evolved over the past 30 years.
Key Differences Between CMS and Myasthenia Gravis (MG): The autoimmune vs. genetic origins, age of onset, and differences in symptoms between the two conditions.
Genetic Testing for CMS: How advancements in genetic testing have transformed the diagnosis of CMS and allowed clinicians to better differentiate it from other neuromuscular disorders.
Challenges in Diagnosing CMS: Why some patients are misdiagnosed with muscular dystrophies or unspecific myopathies, and how larger neuromuscular panels and exome sequencing are improving diagnosis.
Common Symptoms of CMS: Ptosis, muscle weakness, and fatigue are key indicators, often seen in the absence of muscle degeneration.
Treatment Approaches for CMS: How treatment depends on the genetic mutation, with drugs like Mestinon benefiting some patients but worsening symptoms in others, such as those with DOK7-related CMS.
The Role of Repetitive Nerve Stimulation Tests: How this diagnostic tool helps identify neuromuscular transmission defects.
Importance of Genetic Diagnosis: How a full genetic diagnosis can provide clarity for patients and improve quality of life by guiding targeted treatment options.
Treatabolome Database: A resource that links specific genetic mutations to the most effective treatments for CMS.
Dr. Lochmüller also shares insights into the variability of CMS symptoms and the resilience of patients living with the condition. He highlights the importance of a genetic diagnosis, as it often brings relief and provides a roadmap for effective management of the disease.
Learn more about ongoing research in CMS  here and specifically for the CMS Natural History Study here. 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#307 NSGC 2024 Recap

We’re recapping and reflecting on the 43rd National Society of Genetic Counselors (NSGC) Annual Conference that took place in vibrant New Orleans. As always, the sense of community was incredible, and this year was no exception. 
 
I had the privilege of reconnecting with past guests, sponsors of the show, classmates, and meeting new people. It’s always surreal to meet so many listeners in person—thank you for all your kind words and support! Producing a weekly episode since 2022 has been a labor of love, and this conference gave me the extra boost of motivation to keep going strong.
 
In this recap episode, I had the chance to chat with attendees about their favorite moments from the conference. All these mini interviews were with genetic counseling students who shared what they learned at the conference. Students were from three programs: University of Pittsburgh, Baylor College of Medicine, and Sarah Lawrence College. 
 
We also took a deeper dive into one of the standout sessions, “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” which was moderated by Courtney Studwell, MS, CGC. I caught up with another friend, Jovanni Cuevas, MS, CGC, to debrief on what we learned from the session. 
 
All these interviews were recorded in person at the conference, so you might hear a little background noise, but it adds to the ambiance of the lively event!
Sessions References During The Episode:
- “NSGC 2024 State of the Society Address” 
- Breakfast with Biomarin “A Deeper Look Into Achondroplasia”
- “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability”
- Professional Issues Panel “Genetic Counseling around the Globe” Insights, Lessons, and Collaboration for a Future-Proof Profession”
- “Take it at Faith Value: A Look at the Needs of Genetic Counseling in the Hindu, Pakistani Muslim, Church of Jesus Christ of Latter-day Saints (Mormon), and Orthodox Jewish Communities” 
- “Beverly Rollnick Memorial Lecture: Ordering “The Cure” with a Side of Trepidation: The Challenges of Gene Therapy for Sickle Gene Disease”
DNA Today Podcast Episodes Mentioned:
#110 Gattaca, 22 Years Later
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
#301 Dwarfism with Colleen Gioffreda
#302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care
#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”
#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
 
Curious about other NSGC conferences? We have recapped the last six years of conferences including 2019, 2020, 2021, 2022, and 2023. 
Other References During The Episode:
- Little People of America (LPA)
- Metabolic NSGC Special Interest Group (SIG)
- DNA Dialogues, Journal of Genetic Counseling’s Podcast
- The Road to Wisdom By Dr. Francis Collins 
 
It was such a meaningful experience to be part of the NSGC 43rd Annual Conference. Whether you joined us in New Orleans or attended virtually, I hope you found the sessions, panels, and networking just as inspiring as we did.
 
Don't forget to mark your calendars! The 44th NSGC Annual Conference is happening next year in Seattle, WA from November 7-10, 2025. We are already excited to drink lots of Seattle coffee with fellow genetic counselors. 
 
Are you going to the American Society of Human Genetics (ASHG) Annual Conference in Denver, CO in November? Keep your eye out for our host Kira Dineen, who will mostly be in the exhibit hall. Just like this episode, she would be excited to record with you about what you learned at the conference. She also might give you DNA Today merch!
 
Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

In this special episode of DNA Today, we are honored to be joined by one of the most influential figures in modern science, Dr. Francis Collins. 
 
Dr. Collins served as the Director of the National Institutes of Health (NIH) during one of the most critical periods in modern history, including the height of the COVID-19 pandemic. He is also renowned for leading the monumental Human Genome Project, a landmark achievement that revolutionized genetics. Dr. Collins's groundbreaking work includes the discovery of the CFTR gene, which has been crucial in advancing treatments for cystic fibrosis. He is the author of several books, including his brand new book, The Road to Wisdom. Don't forget to enter our giveaway for a copy, links further down. 
In this episode, we dive into this new book, which releases on September 17th, 2024. We discuss the insights he has gained throughout his remarkable career, the challenges of bridging science and spirituality, and his reflections on moments of triumph and failure. Dr. Collins also shares personal stories, including his discovery of faith, the difficulties faced during the Human Genome Project, and the challenges of transitioning between political administrations as NIH Director.
Key topics discussed include:
Dr. Collins's experience discovering the CFTR gene and its impact on cystic fibrosis research
The most critical moments of the Human Genome Project and how it reshaped our understanding of genetics
Reflections on his tenure as NIH Director, serving under three U.S. presidents
His response to the COVID-19 pandemic and lessons learned for future public health crises
The role of trust between scientists and the public, and how we can combat misinformation
His thoughts on the intersection of faith and science, and how his beliefs have shaped his career
A special call to action from Dr. Collins’s book: a pledge to reduce animosity, be generous in spirit, and commit to sharing objective truths
Stay tuned until the end for details on our exciting giveaway! We’re offering listeners the chance to win copies of Dr. Collins’s new book, The Road to Wisdom.
Links Mentioned in the Episode:
Enter our giveaway for a chance to win The Road to Wisdom on Instagram, LinkedIn and Twitter/X. 
Sign Dr. Collins's Pledge hosted on Braver Angels for a kinder, more understanding world 
Check out the organization Dr. Collins’ mentioned: Biologos 
 
Our episode next week will be a tad delayed; it will be a recap of the National Society of Genetic Counselors Annual Conference, which doesn’t wrap up until Saturday, September 21st. But don’t worry we are quick with edits and will have the episode to you after the conference ends. 
In the meantime, you can binge over 300 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.