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Thanks to everyone who joined us for the 2022 #NDChallengeNetwork annual meeting! It was a great opportunity to gather and hear from our grantees and partners about their amazing work 🧬

So honored that Alan Finglas and Amber Olsen traveled all the way to California to share their powerful stories. Thank you! #RareDiseases

Excited to share our newest work!

Want to work with the best cardiovascular genetics team EVER?! Come be our new cardiovascular genetic counselor! #GCChat #CVGenetics careers.iuhealth.org/jobs/10328864-…

Congrats Emily on a great summer in the lab! Also, so proud of her fabulous mentor Vi Pham! One step closer to an answer for #MSD.

So excited to see our work (and Luis’ beautiful images!!) in print.

So thrilled to be part of this exceptional network with best nextdoor collaborator ever Rebecca Ahrens-Nicklas!! Thanks CZI Science for the opportunity!

At last week's ASGCT annual meeting, the NIH announced 8 #rarediseases receiving grant support in the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium. Children's Hospital is the lead site for #multiplesulfatasedeficiency. For more: ms.spr.ly/6011gbJeJ

2 years on the JIMD Podcast has over 80 ‘full’ podcasts and 34 ‘Shortcasts’. We’ve discussed #CDG #alkaptonuria #mitodisease #GSD #MMA #PA #GA1 #MSUD #galactosemia #porphyria #PKU #screening #genetherapy and more. It’s the no. 1 IMD podcast (of 1!)

Cute lab outing with the best lab ever Rebecca Ahrens-Nicklas

Very well deserved Alan Finglas !!!! worldsymposia.org/worldsymposium…

I am very honoured to be awarded with the WORLDSymposium 2024 Patient Advocate Leader (PAL) Award. More here: tinyurl.com/PAL24award Its the largest Lysosomal conference in the World with approx 3K attending annually. To all that have helped on our journey so far, thank you 😊

Laura Ohl from the Ahrens-Nicklas lab Rebecca Ahrens-Nicklas defends tomorrow!!

Congratulations to Dr. Laura Ohl who successfully defended her PhD thesis yesterday!

When I started working on #CRISPR to fight heart disease >10 years ago, I never imagined it might lead to cures for rare inborn errors of metabolism. Here’s how it’s happening! Presented/published today #ASHG23 #ASHG2023 ASHG plenary + AJHG + Human Genetics and Genomics Advances 🧵

ASHG AJHG Human Genetics and Genomics Advances Verve Therapeutics Children's Hospital Komor Lab Nicole M. Gaudelli David R. Liu liugroup Dominique L. Brooks Madelynn Whittaker Xiao Wang Rebecca Ahrens-Nicklas Penn Medicine Ben Kleinstiver Jessie Davis Samagya Banskota Somatic Cell Genome Editing (SCGE) Outreach @NINDSnews NCATS William Peranteau 28/ If we’re successful, here’s our vision for addressing mutational discrimination, for enabling equitable treatment of inborn errors of metabolisms. Much, much more to come. Stay tuned! #TranslationalJustice

An exciting first step towards transformative therapies for our patients with rare inherited metabolic disease! @domi_niqueb, Madelynn Whittaker, Xiao Wang, Kiran Musunuru & Mohamad-Gabriel Alameh medicalxpress.com/news/2023-11-g… via Medical Xpress

Vi Pham presents some amazing results on ex vivo gene therapy for MSD. This was co-funded by HealthResearchBoard & MSD Action Foundation @ the Rebecca Ahrens-Nicklas & Rivella labs at Children's Hospital of Philadelphia. Vi was awarded with a very prestigious young investigators award also👏

Dr Mariko Bennett and Dr Laura Adang discuss inborn errors in nucleotide metabolism, exemplified by Aicardi Goutières syndrome. Soundcloud: soundcloud.com/user-109006120… Apple: podcasts.apple.com/gb/podcast/aic… Spotify: open.spotify.com/episode/0aOOX9… #AGS #podcast

So proud of Livia! Congratulations!!!