Once Upon A Gene
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Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin West
47 mins; April 13, 2023
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
42 mins; April 06, 2023
Effisode - There's No Crying In Baseball
4 mins; April 04, 2023
Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael
20 mins; March 30, 2023
Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados
47 mins; March 23, 2023
Effisode - Wheelchairs and Walls
4 mins; March 21, 2023
A Rare Collection - Exhausted and Energized
12 mins; March 16, 2023
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
38 mins; March 09, 2023
Love, Hope and Cure SYNGAP
107 hours 34 mins; February 28, 2023
Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke
39 mins; February 23, 2023
Effisode - Rare Disease Day Events
4 mins; February 21, 2023
A Rare Collection - To the Moon and Back
22 mins; February 16, 2023
Honoring a Husbands Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter
26 mins; February 09, 2023
Effisode - Barbara Is Real
4 mins; February 07, 2023
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
28 mins; February 02, 2023
Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella
53 mins; January 26, 2023
Effisode - Seizures Are Stupid
5 mins; January 24, 2023
A Rare Collection - New Beginnings
17 mins; January 19, 2023
Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO Dadvocate Andrés Treviño
57 mins; January 12, 2023
Effisode - The Friendship Circle
5 mins; January 10, 2023
Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel
30 mins; January 05, 2023
Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer
28 mins; December 29, 2022
Effisode - Rare Disease Day 2023
2 mins; December 27, 2022
A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD
36 mins; December 22, 2022
A Rare Collection - Holiday Cheer
18 mins; December 15, 2022
Effisode - Presents, Portraits and Beyond the Diagnosis
3 mins; December 13, 2022
The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann
38 mins; December 08, 2022
How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson
44 mins; December 01, 2022
Effisode - Fire and Ice
9 mins; November 29, 2022
Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi
38 mins; November 24, 2022
A Rare Collection - Beep, Beep, Beep
21 mins; November 17, 2022
Effisode - The List
7 mins; November 15, 2022
A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson
36 mins; November 10, 2022
Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins
52 mins; November 03, 2022
Effisode - Chasing Greenlights
4 mins; November 01, 2022
Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler
22 mins; October 27, 2022
The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette
42 mins; October 20, 2022
Effisode - Gravity
4 mins; October 18, 2022
A Rare Collection - Batten Down the Hatches
15 mins; October 13, 2022
CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy
49 mins; October 06, 2022
Effisode - Gilmore Girls, Pumpkin Spice, and Baja
3 mins; October 04, 2022
A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis
30 mins; September 29, 2022
Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi
37 mins; September 22, 2022
Effisode - Shake It Off
6 mins; September 20, 2022
A Rare Collection - Underestimated
18 mins; September 15, 2022
Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson
39 mins; September 08, 2022
Effisode - Inclusion Revolution
2 mins; September 06, 2022
Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi
38 mins; September 01, 2022
Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman
42 mins; August 25, 2022
Effisode - Montana or Bust
3 mins; August 23, 2022
Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman
41 mins; August 18, 2022
A Rare Collection - Easier Said Than Done
16 mins; August 11, 2022
Effisode - The Lunchboxes
2 mins; August 09, 2022
When Your Career and Personal Life Collide - VP of Medical and Science Strategy and Head of Syneos Health's Rare Disease Consortium FSHD Rare Dad - Raymond Huml
34 mins; August 04, 2022
Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad
29 mins; July 28, 2022
Effisode - CTNNB1 Awareness Day - Rare Disease Family Meet-Up
3 mins; July 26, 2022
Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman
49 mins; July 21, 2022
A Rare Collection - I Will Never Forget
16 mins; July 14, 2022
Effisode - Back on Track - All Aboard the Inclusion Train
5 mins; July 12, 2022
Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza
35 mins; July 07, 2022
A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa
27 mins; June 30, 2022
Effisode - Global Genes RARE Disease Patient Advocacy Summit
5 mins; June 28, 2022
Picking the Brain of a Rare Disease Dad - With CTNNB1 Dadvocate - Casey Parks
27 mins; June 23, 2022
A Rare Collection - Remember Who You Are
24 mins; June 16, 2022
Effisode - Find Your Fairy Godmother
5 mins; June 14, 2022
Episode 138 - When Your Child is Facing the Most Severe Form of Human Epilepsy You fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam
36 mins; June 09, 2022
Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals
31 mins; June 02, 2022
Effisode - Guilt - Ain't Nobody Got Time for That
3 mins; May 31, 2022
The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy
35 mins; May 26, 2022
A Rare Collection - Up At Night
25 mins; May 19, 2022
Effisode - RARE Entrepreneur Bootcamp Warriors
4 mins; May 17, 2022
The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
37 mins; May 12, 2022
Effisode - I Don't Like That
4 mins; May 03, 2022
Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwen
40 mins; April 28, 2022
Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents
34 mins; April 21, 2022
Effisode - Gimme a Break, Spring Break
4 mins; April 19, 2022
A Rare Collection - Penny For Your Thoughts
18 mins; April 14, 2022
Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins
36 mins; April 07, 2022
Effisode - A Perfect Day for a Walk
5 mins; April 05, 2022
Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing
33 mins; March 31, 2022
Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop
40 mins; March 24, 2022
Effisode - Grocery Store Answers
4 mins; March 22, 2022
A Rare Collection - Unexpected Findings
17 mins; March 17, 2022
A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd
34 mins; March 10, 2022
Effisode - Moments
5 mins; March 08, 2022
Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere
38 mins; March 03, 2022
Effisode - The Unicorns - Random Acts of Kindness in the Rare Community
5 mins; February 22, 2022
A Rare Collection - This Is Us
22 mins; February 17, 2022
How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor Ali
32 mins; February 10, 2022
Effisode - Bathroom Floor Moments
6 mins; February 08, 2022
What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander
34 mins; February 03, 2022
One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander
54 mins; January 27, 2022
Effisode - Oh Goody - Anxiety is Visiting
3 mins; January 25, 2022
Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan
50 mins; January 20, 2022
A Rare Collection - New Beginnings
23 mins; January 13, 2022
Effisode - Rare Disease Day
3 mins; January 11, 2022
A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen
49 mins; January 06, 2022
Create Conversation, Community, and Change with Author of Loving You Big - Leah Moore
42 mins; December 30, 2021
Effisode - The Kindness of Strangers
6 mins; December 28, 2021
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
46 mins; December 23, 2021