A touching insight into the origin of Dr. Hans' interest in rare diseases and how it touches his family.
Hello! I’m a rare disease Dad and doctor who can’t help himself to talk about rare diseases. Hopefully I touch upon a topic of your interest but please feel free to drop me a line.
In covering goals I have more on my son and Syngap1. Finding a balance between managing expectations and aiming for a cure! Hope you enjoy the listen
Podcast #3 takes trip down memory lane with ICD-10. Keep fighting for your code! You deserve it! Hope you enjoy the listen and please feel free to reach out!
ICD-11 will be the worldwide standard in coming years so get in now-- it’ll be easier than you think! While Syngap is indexed to LD90.Y, we have a permanent Unique Identifier (URI) here: https://id.who.int/icd/entity/1830660574 which will be of use in collecting data specific to Syngap1. Also ICD-11 plans on allowing extension coding to denote the affected gene in a condition. Hopefully this Chromosomal and Gene Axis rolls out soon so that docs can add Syngap1 as an extension code to LD90.Y!
Deep dives here: https://youtu.be/oZ0PhXv8pVg?si=CZJMT2eXQ3SlFTJL
And
At some point, you and the pediatrician need to plan transferring care of your ‘little’ loved one to an healthcare provider who manages adults. This can be a challenge and an event where something could fall through the cracks. Talk about it, plan it, and passing your care from one provider to the next shouldn’t let you down.
Resources here:
https://together.stjude.org/en-us/emotional-support-daily-life/transition-to-adult-health-care.html
Background:
https://www.nejm.org/doi/full/10.1056/NEJMsr2412784?logout=true
https://www.aarp.org/benefits-discounts/members-only-access/info-2025/where-are-all-the-doctors.html
Todays podcast is about learning lessons from the saddest outcomes.
Just over 3 weeks ago, Sarepta reported that a young man passed away after receiving their gene therapy for Duchenne Muscular Dystrophy. As a rare disease Dad, physician, and teammate in drug development, I want to share my 2 cents in the hopes it helps.
Resources here:
investorrelations.sarepta.com
Committee Recommends EU Trials of Sarepta's Elevidys Continue, Day After Holds
biospace.com
https://www.nejm.org/doi/full/10.1056/NEJMoa2307798?logout=true
https://cureduchenne.org/all-news/pfizer-ciffreo-webinar/
https://www.nature.com/articles/s41586-023-05949-1
https://www.nature.com/articles/s41586-023-05948-2?fromPaywallRec=false
Podcast #7 Todays podcast is about how impressive the ASGCT conference was this year! How great is it to hear KJ’s story and how everyone moved heaven and earth to treat him. What a huge win all around and an absolute dunk on NIH detractors. And beyond the huge news, there was also 4 abstracts on Syngap1: 1. An AAV effort by Biomarin and the Allen Brain Institute 2. A regRNA effort by Camp4 3. A deep phenotyping of a Syngap1 mouse by Jax Labs 4. A Syngap1 (and Rett) lentiviral therapy update from UC Davis The Syngap1 space is heating up and has the First-in-Human milestone insight!
RESOURCES LINKS: https://www.nejm.org/doi/full/10.1056/NEJMoa2504747?logout=true https://www.nejm.org/doi/full/10.1056/NEJMe2505721 https://annualmeeting.asgct.org/abstracts
Podcast #8 Todays podcast is about the Elevidys rollercoaster of the past 2 weeks. Risk: Benefit analysis is a bear the rare disease community, regulators, and the pharmaceutical industry constantly wrestle with. The best analysis happens when all the data is disclosed and discussed. The last thing anyone should do is make a premature judgment that takes away a therapy for a severely debilitating, life-threatening disease.
For the sake of the patients, Sarepta, Roche, and the FDA need to put their backs into disclosure, discussion, analysis, and patient-centered guidance!
RESOURCES LINKS: https://www.sarepta.com/community-letter-elevidys-safety-update
RWE starting point
https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2835400?resultClick=1
On October 1st, Camp4 Therapeutics reached a pivotal milestone: they dosed their first non-human primate in a Good Laboratory Practice study—typically the final research hurdle before filing an IND and opening human trials. For our community, this isn't just another press release. It's the moment we've been fighting toward.
In today's podcast, I walk you through the drug development process using Syngap1 as our lens. You'll gain a deeper understanding of the rigorous science, regulatory gauntlet, and sheer determination required to bring a therapy from concept to our loved ones. This journey is neither quick nor easy, but Camp4's progress proves it's possible.
If this study succeeds, we could see the first Syngap1 gene-targeting therapeutic tested in patients within reach. The next milestone isn't just approaching—it's tangible.
Stay hopeful. Stay realistic. And keep those fingers crossed, because the hard work of researchers, advocates, and families is bringing us closer than ever before.
I hope these podcasts help and if you have a topic you would like for me to address, please just drop me a note! Please note that these opinions are my own and should not reflect on my employer! And if I mention medical care, please talk to your doctor! 😊
RESOURCES LINKS:
Camp4 Press Release:
Resources:
Drug Development- https://ijlbpr.com/uploadfiles/22vol13issue1pp118-134.20240117085619.pdf
Syngap1 Discovery-
https://www.sciencedirect.com/science/article/pii/S0896627300804717
Human Target Validation-
https://pubmed.ncbi.nlm.nih.gov/30482795/
Syngap1 linked to human illness- https://www.nejm.org/doi/pdf/10.1056/NEJMoa0805392
Critical Syngap1 mouse work-
https://www.biologicalpsychiatryjournal.com/article/S0006-3223(14)00593-9/abstract
https://elifesciences.org/articles/46752
Stoke leading the way
Identifying hits to raise Syngap1
https://www.biorxiv.org/content/10.1101/2025.03.13.643156v1
Dr David Altshuler on science decision-making in pharma
Today's rare disease discussion focuses on severe adverse events following vaccination—a truly rare occurrence! While serious reactions to vaccines do exist and warrant medical attention when they occur, their rarity stands in stark contrast to the widespread harm caused by vaccine-preventable diseases themselves. Unfortunately, anti-vaccine rhetoric has reached alarming heights, particularly around autism, despite decades of rigorous scientific research consistently demonstrating that vaccines do not cause autism. Multiple large-scale studies involving millions of children across different countries have found no link between vaccination and autism spectrum disorder. The increase in autism diagnoses over recent decades largely reflects greater awareness among parents and healthcare providers, expanded definitions of the autism spectrum, and better access to diagnostic services—not a true increase in underlying prevalence linked to vaccination. Research shows that autism develops in utero, long before any vaccines are administered, with genetic and prenatal factors playing crucial roles.
While no one enjoys a needlestick, and it's natural for parents to feel anxious about their child's temporary discomfort, these brief moments are crucial to protecting ourselves, our loved ones, and our community from significant diseases. The slight soreness or low-grade fever that sometimes follows vaccination pales in comparison to the serious complications of the diseases themselves—permanent disability from polio, brain damage from measles encephalitis, or death from pertussis in infants too young to be fully vaccinated. Vaccination is ultimately an act of both personal protection and community care, and this success story depends on continued high vaccination rates to maintain community immunity and protect those who genuinely cannot be vaccinated due to medical conditions.
I hope these podcasts help and if you have a topic you would like for me to address, please just drop me a note! Please note that these opinions are my own and should not reflect on my employer! And if I mention medical care, please talk to your doctor! 😊
https://www.youtube.com/watch?v=FIg48OQJNps&t=1s
https://www.britannica.com/science/immunization#/media/1/283675/337082
https://pmc.ncbi.nlm.nih.gov/articles/PMC7482790/
Narcolepsy with Pandemrix
https://pmc.ncbi.nlm.nih.gov/articles/PMC9601309/
Long vax
Patches of disorganization in the brains of patients with autism
https://www.nejm.org/doi/full/10.1056/NEJMoa1307491
Parental health and fetal effects
Neurotoxins in pregnancy
https://www.science.org/doi/10.1126/science.adq0336
The triumph of HBV vaccination
https://pubmed.ncbi.nlm.nih.gov/21618565/
CDC vaccine childhood immunization fact sheet
https://www.hhs.gov/press-room/fact-sheet-cdc-childhood-immunization-recommendations.html
Rare diseases are often framed as modern medical mysteries, but the story of Romito Cave in Italy reminds us that they have been part of the human experience for millennia. Archaeologists discovered a unique prehistoric burial there and the story had an amazing update recently in the New England Journal of Medicine. This discovery proves that even 12,000 years ago, our ancestors didn't just survive; they made the conscious choice to support and protect those who moved differently through the world.
On this Rare Disease Day, we honor the 300 million people worldwide living with a rare condition. The "Index of Care" seen at Romito Cave shows us that "accommodation of difference" is one of our oldest human traditions. In a world where many still face diagnostic odysseys and limited access to treatment, we can take inspiration from our ancestors. They didn't just see a "patient" or a "disability"; they saw a vital member of their tribe who deserved protection and love. Let’s continue to build a society that, like the community at Romito Cave, ensures no one has to walk their path alone.
#RareDiseaseDay #RareDiseaseAwareness #RomitoCave #HumanHistory #BioarchaeologyOfCare
Romito Cave
1995
https://www.persee.fr/doc/bmsap_0037-8984_1995_num_7_3_2413
2026
https://www.nejm.org/doi/full/10.1056/NEJMc2513616?logout=true
Copyright © 2025 Rare Diseases with Dr.Hans - All Rights Reserved. Disclaimer: The views expressed in these videos are those of Dr. Hans alone and do not reflect the views of his employer. Also any medical advice is for entertainment purposes only and people needing medical advice should seek their own medical professionals.
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