#320 Genetics in Neuromuscular Disorders: Diagnosis and Treatment with Dr. Robert Bucelli

“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.