Joined November 2018
Want to be the first to find out about all things #PittHopkins? We share important information about our conference, upcoming trials, research updates, and more via our email list! JOIN THE PARENT LIST: pitthopkins.org/parent-e-mai… JOIN THE GENERAL EMAIL LIST: pitthopkins.org/about-us/joi…
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We can't thank you enough for your support in 2023, which has been a year of growth for the PHRF! facebook.com/photo/?fbid=774… #PittHopkins #research #happynewyear24 #hope #raredisease
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Thank you @lajollalabs for this great blog summarizing #PittHopkins and for your work to move toward a treatment!
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Maher Lab retweeted
Replying to @LabMaher
@LabMaher's first grad student gonna represent!
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Don't miss learning about her amazing work!
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Happy #SfN23! Catch Gina Shim's poster session "Investigating the impact of common genetic risk variants for schizophrenia on neuronal function elucidates relationships between cellular phenotypes, clinical status and cognitive performance" Sunday!
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I am beyond excited to share our new paper on massively parallel reporter assays on schizophrenia-associated variants. This is in collaboration with @jsteinlab, @srikosuri, @mikelove, @_josedavila, @brad_ruzicka, @AP_Boyle. 🧵 follows.
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants dlvr.it/SwBgpY
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So thrilled to share this incredible work from @LabMaher at @LieberInstitute. Thank you @bradymaherPhD and team! biologicalpsychiatryjournal.…
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Maher Lab retweeted
Bohlen et al. show that promyelinating drugs reduce myelination defects and rescue behavioural and electrophysiological deficits in a mouse model of Pitt -Hopkins syndrome, an autism spectrum disorder caused by autosomal dominant mutations in TCF4. tinyurl.com/vbnmfs2e
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Yay 🎉🎉🎉! I'm so excited to be able to do science with such a supportive team! Thank you @LabMaher @bradymaherPhD and @MD_Stem_Cell 😊
Maher lab had some fun celebrating @ARomeroMorales postdoctoral fellowship funding by the @MD_Stem_Cell Congrats Ale!!!! mscrf.org/awardees
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The current issue of Science is out online with a lot of evolutionary genomics from zoonomiaproject.org and the @apfenning lab, a massive effort! On mammals: science.org/doi/10.1126/scie… On humans: science.org/doi/10.1126/scie… On regulatory evolution: science.org/doi/10.1126/scie…
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"In this study, we demonstrate that pharmacological enhancement of myelination with clemastine or sobetirome/Sob-AM2 are beneficial rescue approaches in a" Pitt–Hopkins syndrome mouse model, the authors of a study in Brain write: bit.ly/3GWUjOR.
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Results from this study in @molpsychiatry begin to reveal how mutations in the autism-linked gene MYT1L lead to developmental delays and autism, says lead investigator @MoritzMall: bit.ly/3YQ6Km0. By @LauraLauraDat. @joeddoughert @bradymaherPhD bit.ly/3YNtQcL
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Really please to share our @LabMaher recent preprint, where we use a 2D differentiation protocol developed by @UPenn_SongMing to achieve a transcriptional profile approximating dorsolateral prefrontal cortex in human late fetal-postnatal stages thanks to help from @andrewjaffe.
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Maher Lab retweeted
Happy holidays! Introducing RTutor.ai, an AI-powered app that lets you chat with your data in English! RTutor uses Davinci (#ChatGPT’s sibling) to turn requests into R code, which is executed & results are shown instantly, available as a HTML report in seconds. 1/8
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At #ACNP2022, @LabMaher and Matt MacDonald chairing a session on understanding the biology of schizophrenia genetic risk. Leading off, @Fede_Farinelli describes ePhys studies showing altered excitability in iPSC-derived neurons.
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Maher Lab retweeted
Need high quality AAV, lenti-, or rabies-virus for neuro applications? Look no further than the UNC Neuroscience Center and the BRAIN Initiative Viral Vector Core!!! unc-neurotools.org/ @KimRitola @uncneuro
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CIRM has awarded a $4 million grant to Mahzi Therapeutics to support the work of developing a gene therapy treatment for #PittHopkins syndrome. Incredible news! cirm.ca.gov/our-progress/awa…
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