#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy.

In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease.

Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen.

Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com.

The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life.

On This Episode We Discuss:

Susannah’s journey to a diagnosis

Kif1A – and what a pathogenic variant (mutation) in this gene means

Living with a nano-rare disease

Susannah’s courage and joy

Finding a treatment for Susannah

To hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org.

Stay tuned for the next new episode of DNA Today on June 3rd! New episodes are released on Fridays. In the meantime, you can binge over 185 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)