Jordan @JordanAMitchell

Agents can be AI, but agency is human. It is every individual’s responsibility to empower our own agency, with the help of tools. But the North Star should always remain human centered.

Today, the @US_FDA approved the first treatment for ataxia-telangiectasia (A-T) in adults and pediatric patients weighing at least 15 kg, reflecting an important milestone for families facing this progressive condition and our continued commitment to patients with rare diseases. fda.gov/drugs/news-eve…

Beren Therapeutics launched Test for NPC: disease education plus NPC GenomeComplete — no-charge whole-genome sequencing (GeneDx), family testing, and genetic counseling for eligible patients. Preliminary results in about 48 hours for children in rapid neurological decline. They say roughly two-thirds of people with NPC in the U.S. are still undiagnosed. If a clinician is thinking NPC, this is one path to answers. testfornpc.com

Check out our recent publication, also Ellen made the cover image!: Codon-optimized Npc1 mRNA corrects Niemann-Pick type C1 disease phenotypes in vitro and in vivo: Molecular Therapy Nucleic Acids cell.com/molecular-ther…

Find the paper from Schultz Lab here: cell.com/molecular-ther…

The September issue of Molecular Therapy Nucleic Acids is out, and the cover is ours to celebrate: Ellen Koufer’s art, Schultz lab science, work @Life4Liam helped fund.

Life 4 Liam & Friends @Life4Liam

2 weeks ago

The September issue is here. Our Iowa gene-therapy paper is in Molecular Therapy Nucleic Acids, Vol 37 Issue 3. Codon-optimized Npc1 mRNA in lipid nanoparticles. First in-vivo validated mRNA/LNP path for NPC1. Open access: doi.org/10.1016/j.omtn… #NPC #NiemannPickDisease

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In mice missing NPC1, one IV dose got the liver making the protein again. Autophagy came back toward normal. Lipid and liver-injury markers improved. Keep dosing, keep the protein. A functional-cure path. Not the finish line. cell.com/molecular-ther… #CureNPC #NiemannPickDisease

The September issue is here. Our Iowa gene-therapy paper is in Molecular Therapy Nucleic Acids, Vol 37 Issue 3. Codon-optimized Npc1 mRNA in lipid nanoparticles. First in-vivo validated mRNA/LNP path for NPC1. Open access: doi.org/10.1016/j.omtn… #NPC #NiemannPickDisease

Excited this work is finally published. The effectiveness of this gives us so much hope that we will save our son and children with NPC. Very grateful and proud of everyone who played a part and helped prove this is a path to a cure. There has been a lot of great developments since this initial phase completed as we prepare for the next phase of testing it in the brain.

Life 4 Liam & Friends @Life4Liam

3 weeks ago

We have been waiting to share to this. The first phase of gene-therapy work our families helped fund at Schultz Lab and the University of Iowa Stead Family Children’s Hospital is published. In mice with NPC, they delivered the instructions for the missing protein. The liver

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We have been waiting to share to this. The first phase of gene-therapy work our families helped fund at Schultz Lab and the University of Iowa Stead Family Children’s Hospital is published. In mice with NPC, they delivered the instructions for the missing protein. The liver started making NPC1 again. Keep giving the doses, keep the protein. A functional-cure path. The start of the right road to a true cure. Read it here: pmc.ncbi.nlm.nih.gov/articles/PMC13…

BREAKING An officer-involved shooting occurred on August 4th, in the 4500 block of East Tropicana Avenue. This shooting left a suspect deceased at the scene. An LVMPD officer was transported to a local hospital, where, despite all life-saving efforts, he passed away. The officer had been with LVMPD since November 2023. Additional details will be released as they become available. Our condolences go out to the officer's family. We will support them in every way we can in the days ahead. This incident highlights the dangers law enforcement officers face in the line of duty.

Now published in Molecular Genetics and Metabolism Reports: “Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy.” Read our press release to learn more investors.zevra.com/news-releases/…

🚨: The most important sky events of this decade is occurring on February 28th. 🌌 ✨ Six planets will align and put on a show of our lifetime. Mercury, Venus, Jupiter and Saturn will be visible to the naked eye from almost anywhere. Uranus and Neptune will be visible to naked eye if seen from dark places. MARK YOUR CALENDERS; February 28th. 📅✨

Mark Your Calendars ! FEBRUARY 28, 2026 Don't forget to look up the planets will drift quietly across the sky, reminding us how beautifully the universe can align.

!!

Tim Pool @Timcast

a year ago

I was SWATted 15 times in one year. I had the bomb squad at my studio twice. We had to evacuate for 3 hours during our show. Last year a man in a dress attacked one of my employees at our old location. We have armed guards. This is how its been because of the Left

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Niemann-Pick is a rare, inherited lysosomal storage disorder impacting both children and adults. Discover how we’re striving to develop potential treatments for this critical unmet need. bit.ly/44t6U5P $RFL #NiemannPick #NPC

Our fight for Liam and others with Niemann-Pick Type C is at risk due to proposed $18B NIH cuts. Research is our hope for a cure. Read our story and join us to advocate for funding! #NPC #RareDisease #SaveResearch lasvegassun.com/news/2025/aug/…

Prime Editing for Chronic Granulomatous Disease (CGD) Prime Editing restored 66% immune function in a CGD patient—3x above curative threshold. Insights like this could inspire treatments for lysosomal disorders like NPC. Hope for rare diseases! #RareDisease #GeneTherapy #NPC

Exciting new review on advancing mass spectrometry in lipidomics for Niemann-Pick type C (NPC) disease! Explores MS tools, biomarkers like oxysterols & sphingolipids, and future integration with AI & omics for better diagnosis & therapies. A must-read for rare disease research!

FDA Regulatory Shift Key regulatory news for the #RareDisease community. The FDA is signaling more flexibility on accelerated approval for gene therapies, potentially making it the "norm". Using surrogate endpoints in small trials could significantly shorten the path from lab to clinic for #NiemannPick therapies. #FDA #GeneTherapy #DrugDevelopment