New paper alert! Rare DNA changes in the SETBP1 gene are linked to speech problems & diverse syndromes affecting brain development. Work led by ace postdoc @maggiemkwong.bsky.social uncovered impact of different gene variants, coupling clinical/speech evaluation to molecular & cellular readouts.🧬🗣️🔬🧪
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder - Nature Communications
Different types of SETBP1 variants cause variable developmental syndromes with only partial clinical and functional overlaps. Here, the authors report that SETBP1 variants outside the degron region impair DNA-binding, transcription, and neuronal differentiation capacity and morphologies.
www.nature.com
October 10, 2025 at 5:36 PM
New paper alert! Rare DNA changes in the SETBP1 gene are linked to speech problems & diverse syndromes affecting brain development. Work led by ace postdoc @maggiemkwong.bsky.social uncovered impact of different gene variants, coupling clinical/speech evaluation to molecular & cellular readouts.🧬🗣️🔬🧪
My new paper is out! Delineated complexity of SETBP1-related disorders by combining clinical/speech evaluations with molecular and cellular profiling. Thanks everyone for contributing and special thanks to @profsimonfisher.bsky.social 😆
New paper alert! Rare DNA changes in the SETBP1 gene are linked to speech problems & diverse syndromes affecting brain development. Work led by ace postdoc @maggiemkwong.bsky.social uncovered impact of different gene variants, coupling clinical/speech evaluation to molecular & cellular readouts.🧬🗣️🔬🧪
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder - Nature Communications
Different types of SETBP1 variants cause variable developmental syndromes with only partial clinical and functional overlaps. Here, the authors report that SETBP1 variants outside the degron region impair DNA-binding, transcription, and neuronal differentiation capacity and morphologies.
www.nature.com
October 10, 2025 at 6:35 PM
My new paper is out! Delineated complexity of SETBP1-related disorders by combining clinical/speech evaluations with molecular and cellular profiling. Thanks everyone for contributing and special thanks to @profsimonfisher.bsky.social 😆
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. New publication by Maggie Wong & al. @maggiemkwong.bsky.social & al. with @profsimonfisher.bsky.social . doi.org/10.1038/s414....
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder - Nature Communications
Different types of SETBP1 variants cause variable developmental syndromes with only partial clinical and functional overlaps. Here, the authors report that SETBP1 variants outside the degron region impair DNA-binding, transcription, and neuronal differentiation capacity and morphologies.
doi.org
October 11, 2025 at 2:26 PM
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. New publication by Maggie Wong & al. @maggiemkwong.bsky.social & al. with @profsimonfisher.bsky.social . doi.org/10.1038/s414....
Exited to share data from super talented team Drs Carlson and Tauchmann on SETBP1-associated epigenetic complexes! Stop by to see if I can remember how to present a poster 😉. #ash2024 Poster 3143. @samtau19.bsky.social
December 8, 2024 at 8:34 PM
Exited to share data from super talented team Drs Carlson and Tauchmann on SETBP1-associated epigenetic complexes! Stop by to see if I can remember how to present a poster 😉. #ash2024 Poster 3143. @samtau19.bsky.social
New research led by Maggie Wong (@MPI_NL) reveals that SETBP1 variants outside the degron can disrupt transcription & neuron development - redefining the disease spectrum. Largest cohort to date (n=18). Nature Comms: www.nature.com/articles/s41...
#genetics #SETBP1
#genetics #SETBP1
Client Challenge
www.nature.com
October 14, 2025 at 8:35 AM
New research led by Maggie Wong (@MPI_NL) reveals that SETBP1 variants outside the degron can disrupt transcription & neuron development - redefining the disease spectrum. Largest cohort to date (n=18). Nature Comms: www.nature.com/articles/s41...
#genetics #SETBP1
#genetics #SETBP1
SETBP1 protein dosage critically influences brain development, impacting signaling pathways and gene expression in neurodevelopmental disorders.
by Antonyan L, Zhang X (...) Ernst C et 10 al. in Hum Mol Genet #MedSky
👉 get more here
📖 read the article:
by Antonyan L, Zhang X (...) Ernst C et 10 al. in Hum Mol Genet #MedSky
👉 get more here
📖 read the article:
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes
Abstract. Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly e
academic.oup.com
April 15, 2025 at 12:56 PM
If you are at #EHA2025 I hope you can catch Dr. Samantha Tauchmann's talk on the role of KAT7 in SETBP1-driven epigenetic dysregulation on Sunday!
Session: s441 Novel and experimental approaches to study and treat MPN
@samtau19.bsky.social
Session: s441 Novel and experimental approaches to study and treat MPN
@samtau19.bsky.social
June 13, 2025 at 7:01 PM
If you are at #EHA2025 I hope you can catch Dr. Samantha Tauchmann's talk on the role of KAT7 in SETBP1-driven epigenetic dysregulation on Sunday!
Session: s441 Novel and experimental approaches to study and treat MPN
@samtau19.bsky.social
Session: s441 Novel and experimental approaches to study and treat MPN
@samtau19.bsky.social
SETBP1 missense variants outside the canonical degron region have been shown to disrupt DNA binding, transcriptional regulation, and neuronal differentiation, resulting in a distinct neurodevelopmental disorder. doi.org/g97j2r
New insights into SETBP1 variants reveal mechanisms behind neurodevelopmental disorders
An international research team led by Maggie Wong at the Max Planck Institute for Psycholinguistics (MPI) has discovered that SETBP1 missense variants outside the canonical degron region can disrupt DNA binding, transcriptional regulation, and neuronal differentiation—giving rise to a distinct, clinically heterogeneous neurodevelopmental disorder.
medicalxpress.com
October 21, 2025 at 8:56 PM
SETBP1 missense variants outside the canonical degron region have been shown to disrupt DNA binding, transcriptional regulation, and neuronal differentiation, resulting in a distinct neurodevelopmental disorder. doi.org/g97j2r
Have you read this recent article from Blood Cancer Discovery?
MYST Acetyltransferases Interact with SETBP1 and Are a Targetable Therapeutic Vulnerability in SETBP1-Mutant Leukemia buff.ly/41RJSrQ
MYST Acetyltransferases Interact with SETBP1 and Are a Targetable Therapeutic Vulnerability in SETBP1-Mutant Leukemia buff.ly/41RJSrQ
August 12, 2026 at 1:08 PM
Have you read this recent article from Blood Cancer Discovery?
MYST Acetyltransferases Interact with SETBP1 and Are a Targetable Therapeutic Vulnerability in SETBP1-Mutant Leukemia buff.ly/41RJSrQ
MYST Acetyltransferases Interact with SETBP1 and Are a Targetable Therapeutic Vulnerability in SETBP1-Mutant Leukemia buff.ly/41RJSrQ
Our study on SETBP1 variants outside the degron just got featured on Scienmag! 🧠✨
Read the coverage here 👉 scienmag.com/setbp1-varia...
#Genetics #Neurodevelopment #SETBP1
@profsimonfisher.bsky.social @mpi-nl.bsky.social
Read the coverage here 👉 scienmag.com/setbp1-varia...
#Genetics #Neurodevelopment #SETBP1
@profsimonfisher.bsky.social @mpi-nl.bsky.social
SETBP1 Variants Outside Degron Cause Neurodevelopmental Disorder
In the ever-evolving field of neurodevelopmental genetics, groundbreaking research continues to unveil the intricate mechanisms behind complex disorders. A recent landmark study published in Nature
scienmag.com
October 14, 2025 at 11:13 AM
Our study on SETBP1 variants outside the degron just got featured on Scienmag! 🧠✨
Read the coverage here 👉 scienmag.com/setbp1-varia...
#Genetics #Neurodevelopment #SETBP1
@profsimonfisher.bsky.social @mpi-nl.bsky.social
Read the coverage here 👉 scienmag.com/setbp1-varia...
#Genetics #Neurodevelopment #SETBP1
@profsimonfisher.bsky.social @mpi-nl.bsky.social
Big thanks to #SFARI for supporting our research through a 2024 Pilot Award. This funding will help us explore how mutations in chromatin regulators ASH1L and SETBP1 impact the development of inhibitory neurons and contribute to autism spectrum disorders.
www.sfari.org/2025/04/08/a...
www.sfari.org/2025/04/08/a...
SFARI | Announcing the Recipients of the 2024 Pilot and Pilot Progression Awards
The Simons Foundation Autism Research Initiative is pleased to announce funding for 23 projects as part of its 2024 Pilot and Pilot Progression awards.
www.sfari.org
April 23, 2025 at 8:26 AM
Big thanks to #SFARI for supporting our research through a 2024 Pilot Award. This funding will help us explore how mutations in chromatin regulators ASH1L and SETBP1 impact the development of inhibitory neurons and contribute to autism spectrum disorders.
www.sfari.org/2025/04/08/a...
www.sfari.org/2025/04/08/a...
👉Don't miss the related commentary: KATs in the MYST: A New Therapeutic Vulnerability for SETBP1-Mutated Myeloid Malignancies buff.ly/EDeGq55
KATs in the MYST: A New Therapeutic Vulnerability for SETBP1-Mutated Myeloid Malignancies
Summary:. Carlson and colleagues demonstrate that SETBP1 mutations promote leukemic self-renewal by recruiting MYST acetyltransferase complexes (KAT7/KAT6A) to chromatin, where H3K14ac and H3K23ac…
buff.ly
August 12, 2026 at 1:08 PM
👉Don't miss the related commentary: KATs in the MYST: A New Therapeutic Vulnerability for SETBP1-Mutated Myeloid Malignancies buff.ly/EDeGq55
Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing. New paper by Grönberg & al.
doi.org/10.1038/s415....
doi.org/10.1038/s415....
Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing - Scientific Reports
Scientific Reports - Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing
doi.org
December 13, 2024 at 9:02 AM
Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing. New paper by Grönberg & al.
doi.org/10.1038/s415....
doi.org/10.1038/s415....
RRIDs were included in this paper. RRIDs improve reproducibility in scientific research. #STMpublishing #accelerateopenscience #ReproducibleResearch
MYST acetyltransferases are a targetable therapeutic vulnerability in SETBP1-mutant leukemia
doi.org
January 28, 2026 at 11:02 PM
RRIDs were included in this paper. RRIDs improve reproducibility in scientific research. #STMpublishing #accelerateopenscience #ReproducibleResearch
The authors included RRIDs in their paper! RRIDs improve reproducibility in scientific research. #OpenScience #ReproducibleResearch #reproducibility
Behavioral and prefrontal circuit deficits in a newly-developed Setbp1 haploinsufficiency mouse model
doi.org
December 14, 2025 at 8:00 AM
The authors included RRIDs in their paper! RRIDs improve reproducibility in scientific research. #OpenScience #ReproducibleResearch #reproducibility
A preprint using: C57BL/6J-Setbp1 (RRID:IMSR_JAX:033235) was published.
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #methodsmatter #reproducibility
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #methodsmatter #reproducibility
www.biorxiv.org
January 1, 2026 at 5:53 PM
A preprint using: C57BL/6J-Setbp1 (RRID:IMSR_JAX:033235) was published.
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #methodsmatter #reproducibility
SciScore made a table with this resource, see “Automated Services” module (download as csv, xml or #jats) #methodsmatter #reproducibility
C'est aujourd'hui ! 🚴
Je ne peux pas être à Dorval pour pédaler mais je peux aider la recherche sur SETBP1 💪
Bon ride à Antoine 🚴
charity.pledgeit.org/MillionDolla...
Je ne peux pas être à Dorval pour pédaler mais je peux aider la recherche sur SETBP1 💪
Bon ride à Antoine 🚴
charity.pledgeit.org/MillionDolla...
Support Elisabeth Fiquet - 2026 Million Dollar Bike Ride
The Penn Medicine Orphan Disease Center hosts this event to raise money for research in rare diseases and I'm excited to participate. Please consider donating to our cause and being a part of transfor...
charity.pledgeit.org
June 13, 2026 at 7:29 AM
C'est aujourd'hui ! 🚴
Je ne peux pas être à Dorval pour pédaler mais je peux aider la recherche sur SETBP1 💪
Bon ride à Antoine 🚴
charity.pledgeit.org/MillionDolla...
Je ne peux pas être à Dorval pour pédaler mais je peux aider la recherche sur SETBP1 💪
Bon ride à Antoine 🚴
charity.pledgeit.org/MillionDolla...
See for example our works of Schinzel-Giedion syndrome www.nature.com/articles/s41... and www.nature.com/articles/s41.... 3/n
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome - Nature Communications
Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome characterized by severe intellectual and physical deficits due, at least in part, to early neurodegeneration. Here the authors introdu...
www.nature.com
December 2, 2024 at 3:37 PM
See for example our works of Schinzel-Giedion syndrome www.nature.com/articles/s41... and www.nature.com/articles/s41.... 3/n
CMML 的分子標記不是 CSF3R
CMML 常見的是 TET2（約 60%）、SRSF2（約 50%）、ASXL1（約 40%）以及 RAS pathway 突變；CSF3R 是 CNL 的標誌（T618I，見於 >80%）。
aCML（WHO-5 改稱 MDS/MPN with neutrophilia）則富含 SETBP1 與 ETNK1，各約三分之一。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
CMML 常見的是 TET2（約 60%）、SRSF2（約 50%）、ASXL1（約 40%）以及 RAS pathway 突變；CSF3R 是 CNL 的標誌（T618I，見於 >80%）。
aCML（WHO-5 改稱 MDS/MPN with neutrophilia）則富含 SETBP1 與 ETNK1，各約三分之一。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
August 4, 2026 at 2:51 AM
CMML 的分子標記不是 CSF3R
CMML 常見的是 TET2（約 60%）、SRSF2（約 50%）、ASXL1（約 40%）以及 RAS pathway 突變；CSF3R 是 CNL 的標誌（T618I，見於 >80%）。
aCML（WHO-5 改稱 MDS/MPN with neutrophilia）則富含 SETBP1 與 ETNK1，各約三分之一。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
CMML 常見的是 TET2（約 60%）、SRSF2（約 50%）、ASXL1（約 40%）以及 RAS pathway 突變；CSF3R 是 CNL 的標誌（T618I，見於 >80%）。
aCML（WHO-5 改稱 MDS/MPN with neutrophilia）則富含 SETBP1 與 ETNK1，各約三分之一。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
CNL 的診斷條件
白血球 ≥25×10⁹/L、成熟嗜中性球 ≥80%、循環前驅細胞 <10%、無明顯 dysplasia，並排除 BCR::ABL1 與其他 MPN，再加上 CSF3R 突變。
常伴隨的次要突變是 ASXL1 與 SETBP1 —— 後者出現代表預後較差。
記法：CNL 是嗜中性，受器出問題 → CSF3R。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
白血球 ≥25×10⁹/L、成熟嗜中性球 ≥80%、循環前驅細胞 <10%、無明顯 dysplasia，並排除 BCR::ABL1 與其他 MPN，再加上 CSF3R 突變。
常伴隨的次要突變是 ASXL1 與 SETBP1 —— 後者出現代表預後較差。
記法：CNL 是嗜中性，受器出問題 → CSF3R。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
August 4, 2026 at 2:52 AM
CNL 的診斷條件
白血球 ≥25×10⁹/L、成熟嗜中性球 ≥80%、循環前驅細胞 <10%、無明顯 dysplasia，並排除 BCR::ABL1 與其他 MPN，再加上 CSF3R 突變。
常伴隨的次要突變是 ASXL1 與 SETBP1 —— 後者出現代表預後較差。
記法：CNL 是嗜中性，受器出問題 → CSF3R。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
白血球 ≥25×10⁹/L、成熟嗜中性球 ≥80%、循環前驅細胞 <10%、無明顯 dysplasia，並排除 BCR::ABL1 與其他 MPN，再加上 CSF3R 突變。
常伴隨的次要突變是 ASXL1 與 SETBP1 —— 後者出現代表預後較差。
記法：CNL 是嗜中性，受器出問題 → CSF3R。
#血液專科
https://hema-2026.hsiehting.com/q/111-013
MDS/MPN-SF3B1-T 的定義基因
是 SF3B1（約九成以上），常合併 JAK2 V617F（約三分之一），加上血小板 ≥450K 與環狀鐵粒幼細胞。
SETBP1 只出現在約 6.6%，不是定義基因 —— 它的代表疾病是 aCML 與 CMML。
WHO-5 已把此病名從 MDS/MPN-RS-T 改為 MDS/MPN with SF3B1 mutation and thrombocytosis。
#血液專科
https://hema-2026.hsiehting.com/q/112-077
是 SF3B1（約九成以上），常合併 JAK2 V617F（約三分之一），加上血小板 ≥450K 與環狀鐵粒幼細胞。
SETBP1 只出現在約 6.6%，不是定義基因 —— 它的代表疾病是 aCML 與 CMML。
WHO-5 已把此病名從 MDS/MPN-RS-T 改為 MDS/MPN with SF3B1 mutation and thrombocytosis。
#血液專科
https://hema-2026.hsiehting.com/q/112-077
August 3, 2026 at 5:49 PM
MDS/MPN-SF3B1-T 的定義基因
是 SF3B1（約九成以上），常合併 JAK2 V617F（約三分之一），加上血小板 ≥450K 與環狀鐵粒幼細胞。
SETBP1 只出現在約 6.6%，不是定義基因 —— 它的代表疾病是 aCML 與 CMML。
WHO-5 已把此病名從 MDS/MPN-RS-T 改為 MDS/MPN with SF3B1 mutation and thrombocytosis。
#血液專科
https://hema-2026.hsiehting.com/q/112-077
是 SF3B1（約九成以上），常合併 JAK2 V617F（約三分之一），加上血小板 ≥450K 與環狀鐵粒幼細胞。
SETBP1 只出現在約 6.6%，不是定義基因 —— 它的代表疾病是 aCML 與 CMML。
WHO-5 已把此病名從 MDS/MPN-RS-T 改為 MDS/MPN with SF3B1 mutation and thrombocytosis。
#血液專科
https://hema-2026.hsiehting.com/q/112-077
SETBP1 突變出現在哪
它的代表疾病是非典型 CML（aCML）與 CMML，屬不良預後。
MDS/MPN-RS-T 的招牌不是 SETBP1，而是 SF3B1 加上 JAK2 V617F —— ring sideroblasts 加血小板增多的組合。
#血液專科
https://hema-2026.hsiehting.com/q/114-019
它的代表疾病是非典型 CML（aCML）與 CMML，屬不良預後。
MDS/MPN-RS-T 的招牌不是 SETBP1，而是 SF3B1 加上 JAK2 V617F —— ring sideroblasts 加血小板增多的組合。
#血液專科
https://hema-2026.hsiehting.com/q/114-019
August 3, 2026 at 8:06 AM
SETBP1 突變出現在哪
它的代表疾病是非典型 CML（aCML）與 CMML，屬不良預後。
MDS/MPN-RS-T 的招牌不是 SETBP1，而是 SF3B1 加上 JAK2 V617F —— ring sideroblasts 加血小板增多的組合。
#血液專科
https://hema-2026.hsiehting.com/q/114-019
它的代表疾病是非典型 CML（aCML）與 CMML，屬不良預後。
MDS/MPN-RS-T 的招牌不是 SETBP1，而是 SF3B1 加上 JAK2 V617F —— ring sideroblasts 加血小板增多的組合。
#血液專科
https://hema-2026.hsiehting.com/q/114-019
Too much or too little of the SETBP1 protein can disrupt important brain cell signals, linked to disorders like Schinzel-Giedion Syndrome. SETBP1 might help organize genetic material in cells, influencing gene activity. This highlights its crucial role in brain development and related conditions.
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Published in Human molecular genetics
doi.org
January 19, 2025 at 2:00 PM
Too much or too little of the SETBP1 protein can disrupt important brain cell signals, linked to disorders like Schinzel-Giedion Syndrome. SETBP1 might help organize genetic material in cells, influencing gene activity. This highlights its crucial role in brain development and related conditions.
Intersection of Regulatory Analysis and Signature Reversion Uncovers Therapeutic Drugs and Targets for SETBP1-HD https://www.biorxiv.org/content/10.64898/2026.05.21.726884v1
May 26, 2026 at 3:34 PM
Intersection of Regulatory Analysis and Signature Reversion Uncovers Therapeutic Drugs and Targets for SETBP1-HD https://www.biorxiv.org/content/10.64898/2026.05.21.726884v1