Once Upon A Gene

ONCE UPON A GENE - EPISODE 189 Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jeff Milton is the CEO of La Jolla Labs, a cutting edge RNA therapeutics company that's developing personalized therapeutics for ultra-rare patients. They combine AI, next generation sequencing and RNA biology to generate therapeutics faster.  EPISODE HIGHLIGHTS Can you te...

ONCE UPON A GENE - EPISODE 188 How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger Dr. Kim Aldinger is a Seattle Children's scientist that studies how genes influence brain development and how those processes malfunction to cause neurodevelopmental disorders. She's also a mom to rar...

Intro Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020...

ONCE UPON A GENE - EPISODE 186 The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu Manmeet Maggu is the Founder & CEO of Tréxō Robotics. Manmeet’s commitment to helping children with cerebral palsy walk drove the vision for Tréxō. An engineer and MBA by training, Manmeet has previously worked in several technical and project ma...

ONCE UPON A GENE - EPISODE 185 The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy Chris Anselmo is an avid writer and communicator living with Limb-Girdle Muscular Dystrophy, which has undoubtedly contributed to how adaptable, resilient and compassionate he is.  EPISODE HIGHLIGHTS What h...

ONCE UPON A GENE - EPISODE 183 A Rare Collection - Wishing Well There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Wendy Erler It's my privilege to work in patient advocacy within the rare disease community. The people who have come into...

Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 182 Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy with Dadvocate Dr. Justin West Dadvocate Dr. Justin West is the father to Andrew, who has a devastating disease called KCNT1, a rare infant-onset seizure disorder. Justin serves as President and Co-Founder of the KCNT1 Epilepsy Foundation. EP...

ONCE UPON A GENE - EPISODE 181 Helping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of Weeks with Probably Genetic CEO Lukas Lange Lukas Lange is the CEO and Founder of Probably Genetic. They seek to give genetic testing to families who are experiencing symptoms of a rare genetic disorder. Go to probablygenetic.com, fill out a sur...

Intro music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 180 Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael Wes Michael is the Founder of Rare Patient Voice, which connects families and caregivers of rare and non-rare diseases with opportunities to share their stories and their opinions with companies and researchers by par...

ONCE UPON A GENE - EPISODE 179 Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados Matt and Maria Granados are the parents of 4-year-old Natalie, who suffers from a rare form of muscular dystrophy called PYROXD-1. They are the founders of the Take Part Foundation which helps to fund research for rare pediatric conditions.  EPISODE HIGHLIGHTS Can you tell us a little bit about yoursel...

Intro music by Scott Holmes Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 178 A Rare Collection - Exhausted and Energized There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Annie Kennedy, Rare disease advocate with the EveryLife Foundation I have a quote in my office that says "she t...

ONCE UPON A GENE - EPISODE 177 Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom Alyssa Poskarbiewicz is a mom to a daughter Lenny, who has CHARGE syndrome. I actually got to meet her in person last spring and she's beautiful inside and out. I think you'll enjoy our conversation,...

Background music by: Title: Living Life Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 175 Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke Stan Crooke is the Founder and CEO of the n-Lorem Foundation. He's also the Founder and former CEO of Ionis Pharmaceuticals, the leader in RNA-targeted therapeutics. Under his leadership at Ionis, he pionee...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 174 A Rare Collection - To the Moon and Back There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Nicole Wright After many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, s...

ONCE UPON A GENE - EPISODE 173 Honoring a Husband’s Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter Sarah Potter's husband Scott got sick and passed away while he was in the middle of creating a documentary about a rare disease called Acute Flaccid Myelitis and the families affected by it. Sarah has immersed...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 172 From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts Madeleine Oudin is a scientist and Tiampo Family Assistant Professor at Tufts University. Her daughter Margo has two de novo mutations in the SCN8A gene, which causes epilepsy. She's navigating life as a...

ONCE UPON A GENE - EPISODE 171 Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella Julia Taravella is a mom to two adult children, Alexander and Daniel, and she's the founder of the Rare Trait Hope Fund. Julia's sons didn't have a diagnosis for 16 years until she went above and beyond to seek...

Intro music by Scott Holmes