Leads the PSDL at Washington University School of Medicine, in St Louis working to understand and devise therapies for Batten Disease. Views are my own.
Not so active on Twitter/X recently. I may still post here every so often, but will be heading over to LinkedIn and Bluesky (@battenpsdl.bsky.social). Please follow me there. Meanwhile, look out for exciting publication news tomorrow (1/15/25)...
After a great trip to New Zealand visiting @NclSteph the @BDSRA 's Ineka Whiteman and Nadia Mitchell, today sees the start of NCL 2025. Plenty of PSDL presentations on our latest work, looking forward to seeing many colleagues & families #battendisease
After a great trip to New Zealand visiting @NclSteph the @BDSRA 's Ineka Whiteman and Nadia Mitchell, today sees the start of NCL 2025. Plenty of PSDL presentations on our latest work, looking forward to seeing many colleagues & families #battendisease
CLN2 disease is a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of TPP1, but little is known about the cellular etiology.
@Batten_PSDL@keigotakahashi6@noahs_hope1@washumedicine now reveal GABAergic interneurons contribute to the fatal seizure phenotype in CLN2 disease mice: https://t.co/hWMGQtbKkK
The image shows widespread SCMAS accumulation (green) in Cln2R207X/R207X mice at 15 weeks.
@PatrickKotnik When you're a Giants fan ... That 1-15 run at home put paid to any chance of the postseason. I promise not to root for the @CleGuardians as that will curse them, but I will cheer (very loudly) for whoever plays the D*dg*rs...
Delighted to see our review article on the neuronal ceroid lipofuscinoses (NCLs, or Batten disease) appear on-line today @NatRevNeurol which can be accessed at: https://t.co/S6KHuvrAyQ @BDSRA@BattenDiseaseuk
BDSRA Canada, the BDSRA Foundation, and its Batten Disease Clinical Centers of Excellence applaud the British Columbia Government’s decision to reinstate funding for Charleigh Pollock’s life-sustaining enzyme replacement therapy, Brineura, to treat CLN2: https://t.co/wcGuvR1ckh
Today is International Batten Disease Awareness Day! This year's T-shirt wisely says: No One Battles Batten Alone! Doing our best to fight the battle for all Batten families, today and EVERY day! #BattenDay2025@BDSRA@BattenDiseaseuk
Great to see Erika here @washumedicine today & have the chance to discuss all things Batten disease with her this afternoon. There's great value in combining pre-clinical & clinical perspectives to learn from each other to better help affected families #battendisease#NCL
In today's #GrandRounds, Kennedy Krieger Institute's Erica Augustine, MD, MS, gave the 39th Annual Philip R. Dodge Lecture on neuronal ceroid lipofuscinoses or Batten disease. She discussed the history of Batten, disease onset timeline and the need for therapeutic innovations.
I can confirm that @PattiDickson is indeed a VERY fine scientist. Her work, insight and expertise speak far louder than any mere qualification! Delighted to work with you Patti! @WashUMedPeds@WashUMedGen
Today its 25 years since the PSDL began! A massive thanks to everyone who has contributed so much to our #Battendisease research over the years, and the Batten families for inspiring it! @BDSRA@BattenDiseaseuk
Thanks for featuring our work @BattenDiseaseuk@BDSRA Ewa and I are looking forward to starting on this Batten family inspired project! We're even (unintentionally) color coordinated for this video! #BattenResearch
🧬RESEARCH SPOTLIGHT 🧬
Dr. Jonathan Cooper and Dr. Ewa Ziółkowska will utilize their BDGRI research grant to explore why children with Batten disease have difficulty swallowing. Learn more about this project at the BDGRI website: https://t.co/v3lRSvBsfi
#BattenResearch
BREAKING: We are proud to announce the recipients of the Batten Disease Global Research Initiative inaugural Research Grant round. Learn more about the recipients and their research: https://t.co/9T2Pnj2KUt
#BattenResearch#BattenDisease#RareDisease#Science#Research#Grant
Greatly looking forward @washumedicine 's Rare Disease Day Symposium tomorrow. Some great speakers covering pre-clinical, translational and clinical research, but most importantly advocacy groups too #RareDiseaseDay (but a week earlier!)
Greatly looking forward @washumedicine 's Rare Disease Day Symposium tomorrow. Some great speakers covering pre-clinical, translational and clinical research, but most importantly advocacy groups too #RareDiseaseDay (but a week earlier!)
Congratulations to all these talented Young Investigators. A special mention for Dr. Ewa Ziółkowska (PSDL). She won this award for a project she devised herself, inspired by Batten families telling her of the swallowing problems their children have @BDSRA family conference
Congratulations to the 2025 #WORLDSymposia Young Investigator Award rcpts: Pratikshya Adhikari, Aimee Donald, Allan Feng, Angelica Maria Herreno Pachon, Andres Felipe Leal, Connor Lewis, Anna Reinelt, Krystyna Noelle Rytel, Roselena Schuh & Ewa Ziolkowska https://t.co/pf5Zg38i4i