logo
episode-header-image
Dec 2024
43m 1s

#320 Genetics in Neuromuscular Disorders...

Kira Dineen
About this episode

“DNA Today” isn’t the only podcast that Kira Dineen produces. She also is involved on the production of other genetics shows like the Journal of Genetic Counseling’s new podcast “DNA Dialogues”, n-Lorem’s “Patient Empowerment Program”, Know Rare’s “Rare Insights”, The PhenoTips’ Speaker Series, and relevant to this episode, she is the Executive Producer of “It Happened To Me” explores rare diseases and medical challenges. 

One of the other shows is called “It Happened To Me” which explores rare diseases and medical challenges. This week the show released its 50th episode and wrapped its second year of episodes; to celebrate we are releasing this special interview on DNA Today’s feed! 

This milestone episode of “It Happened To Me” features Dr. Robert Bucelli who explores neuromuscular neurology including the role of genetics in diagnosing and treating neuromuscular disorders. 

Over the last two years and 50 episodes, “It Happened To Me” co-hosts Cathy Gildenhorn and Beth Glassman draw on their own health challenges as they interview patient advocates and experts who share stories and knowledge to help listeners succeed in the face of difficult health obstacles.

In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:

  • What neuromuscular neurology entails and who is affected.
  • The role of genetics in diagnosing and treating neuromuscular disorders.
  • Common symptoms, risk factors, and diagnostic approaches.
  • How therapies like physical and occupational therapy play a role in management.
  • Lifestyle modifications, including diet and exercise, to minimize risk.
  • The latest advancements in research and treatment, including ASO therapy.
  • Strategies for coping with the challenges of living with neuromuscular conditions.

Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.

After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology’s Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.

Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli’s clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli’s and Washington University’s leadership in trials using to turn off the production of harmful genes that cause ALS.

Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.

Loved this episode? Make sure you follow this show on Apple Podcasts, Spotify, streaming on their website, or any other podcast player by searching, “It Happened To Me”. The next new episode will drop on January 6th, 2025, but don’t wait, you can listen to 50 other episodes in the meantime. 

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Stay tuned for the next new episode of DNA Today on December 27th! New episodes are released every Friday. In the meantime, you can binge over 320 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

Up next
Oct 3
#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut. Our host Kira Dineen resides in Connecticut and has been luc ... Show More
1h 2m
Sep 26
#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”
What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mut ... Show More
31m 28s
Sep 19
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today. Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the M ... Show More
39m 54s
Recommended Episodes
Oct 2024
452: Women's Health, Hormones + The Patriarchy - With Dr. Rachel Rubin
Welcome back to Therapy Chat! This week's guest is known internationally for her advocacy and expertise in women's health. I was so grateful to speak to Dr. Rachel Rubin about hormones, menopause, pelvic health and much more. If you identify as female or love someone who does, yo ... Show More
52m 36s
May 2024
Ep 37: Talking with patients about sad, bad and difficult things
This is Episode 37 of PsychCrunch, the podcast of the British Psychological Society’s Research Digest, sponsored by Routledge Psychology. [Content warning: This episode centres around cancer. As such, it makes references to medical events and themes that some listeners may find d ... Show More
42m 8s
Jul 2024
Brian McFerron - EI in GI: Emotional Intelligence in Training and Your Career
Are you emotionally intelligent? In this new episode Drs. Temara Hajjat and Jason Silverman sit down with Dr. Brian McFerron to review what emotional intelligence is, and how it applies to medical training, healthcare practitioners and everyone as individuals. We also discuss way ... Show More
1h 5m
Nov 2023
131| Consciousness in Epilepsy – A Conversation With Dr. Hal Blumenfeld
Today we give you our conversation about consciousness in epilepsy with Dr. Hal Blumenfeld, Professor of Neurology, Neuroscience, and Neurosurgery at Yale University. In addition to being a well-regarded teacher of neuroanatomy, Hal is also a researcher, with his primary focus be ... Show More
24m 45s
Aug 2024
444: Sandtray, Brainspotting + Expressive Therapies For Trauma with Dr. Julia Knach
This week's episode of Therapy Chat features Trauma Therapist Network member Dr. Julia Knach. Julia has worked for years with survivors of child abuse and is now the owner of a group practice North of Baltimore, Maryland as well as a training institute. In our conversation, Julia ... Show More
52m 40s
Jul 2024
Episode 285: Digital Data Collection with Caitlin Beltran, BCBA
In this episode learn how to simplify and streamline your data collection process using Google Sheets. Caitlin Beltran joins the podcast to give an overview of why digital data collection is helpful, how to get started with this setup, and tips for staff training and organization ... Show More
13m 37s
Apr 2025
Ep 40: Kink, community, and transformation
The massive variety of human sexual interests is a little mind-boggling. As what we consider to be sexually typical continues to be expanded and shaped by the internet and popular culture, psychologists are making efforts to research kinks and members of the kink community like n ... Show More
38m 12s
Jun 2024
484 - Compersion is a Spectrum with Dr. Marie Thouin
Today, Dr. Marie Thouin is back to talk about compersion and her new book on the subject.Dr. Marie Thouin is a Mindful Dating & Relationship Coach who supports people of all backgrounds and relational orientations to create intentional and vibrant love lives. She is a leading exp ... Show More
1h 4m