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.
Joined August 2009
- Tweets 1,542
- Following 619
- Followers 692
- Likes 3,089
110 Photos and videos
Pinned Tweet
14 Jan 2025
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)...
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Today June 9th is International Batten Disease Awareness Day. As a lab we work for all families who live the reality of Batten disease each and every day. They always inspire our efforts to help them. #battendiseaseawareness #battenday2026
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29 Oct 2025
Very nice presentation this morning by Grace Kick, the PSDL’s newest recruit on brainstem pathology and how treatable this is @NCL2025BDSRA
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27 Oct 2025
You can catch up with everything at NCL2025 via @NCL2025BDSRA and also on Facebook
facebook.com/share/1DZn6yaDX…
27 Oct 2025
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
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27 Oct 2025
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
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10 Oct 2025
Great to see our CLN2 interneuron paper appear today in @JCI_insight This work was driven forward by 1st author @keigotakahashi6 and also provides a powerful tool for addressing cellular autonomy in CLN2 disease. @noahs_hope1 @NINDSfunding @washumedicine
10 Oct 2025
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: insight.jci.org/articles/vie…
The image shows widespread SCMAS accumulation (green) in Cln2R207X/R207X mice at 15 weeks.
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4 Sep 2025
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: rdcu.be/eEaGr @BDSRA @BattenDiseaseuk
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19 Jul 2025
Some positive news! @BDSRA
18 Jul 2025
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: ow.ly/798p50Ws62t
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9 Jun 2025
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
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2 May 2025
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
2 May 2025
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.
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1 May 2025
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
Check out the May Newsletter where we spotlight #WashUPhysicianScientist Dr. Patricia Dickson. She tells a great story!
wustl.box.com/s/6mxo8t0jmogc…
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1 Apr 2025
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
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25 Mar 2025
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
25 Mar 2025
🧬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: battenresearch.org/funded-pr…
#BattenResearch
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18 Mar 2025
We are honored and delighted to be among the recipients of the inaugural BDGRI Research Grant round! Very grateful to all including funding partners @tonykatie drewshope.com @noahs_hope1 @BDSRA @BattenDiseaseuk #BattenResearch
18 Mar 2025
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: ow.ly/380m50VjYlH
#BattenResearch #BattenDisease #RareDisease #Science #Research #Grant
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28 Feb 2025
Today is #RareDiseaseDay2025 This is important for raising awareness of these conditions, but the families we work to help all live the reality of a rare disease every day #battendisease #mps @bdsra @BattenDiseaseuk @NationalMps
19 Feb 2025
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!)
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Jonathan Cooper retweeted
27 Feb 2025
A fantastic way to start Rare Disease day at Otago with the launch of a new theme RARITY and a celebration of RDNZ 25th anniversary. #RDNZ
27 Feb 2025
Launching today on #RareDiseaseDay – RARITY (Research Alliance for Rare Illness Translational Pathways), a new research theme focused on translating rare disease research into real-world impact! Follow us to stay connected.
#TogetherForRare #RARITYResearch
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19 Feb 2025
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!)
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17 Feb 2025
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
17 Feb 2025
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 worldsymposia.org/worldsympo…
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5 Feb 2025
Thank you @bdsra for highlighting our work
5 Feb 2025
RESEARCH UPDATES: Our Dr. Ineka Whiteman detailed two research highlights in her latest column, featuring @Batten_PSDL and @MCRI_for_kids: ow.ly/ckAe50USGJW
#BattenAdvocatesForACure #BattenDisease #Research #CLN2Disease #CLN3Disease #Speech #Language #Science @WUSTL
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4 Feb 2025
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2 Feb 2025
Pleased to share the latest pre-print from the PSDL highlighting enteric and neuromuscular disease & myopathy in CLN3 mice treated by gene therapy. From talented PSDL postdoc Ewa Ziółkowska @HeuckerothLab @DrAliSW @forebatten #battendisease biorxiv.org/content/10.1101/…
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