@elinnjohansson.bsky.social's latest paper is now online in Neuro-Oncology Pediatrics: ACVR1 mutations are shared by DMG and the bone disorder FOP, where hypoxia drives disease. Turns out hypoxia signaling is up in ACVR1-mutant pediatric gliomas too. Open access here: doi.org/10.1093/neup...
Hypoxia signaling is elevated downstream of mutant ACVR1 in pediatric high-grade glioma
AbstractBackground. Pediatric diffuse midline gliomas (pDMG) are lethal tumors, with approximately 80% harboring a lysine-to-methionine mutation in histone
doi.org
September 24, 2026 at 1:05 PM
@elinnjohansson.bsky.social's latest paper is now online in Neuro-Oncology Pediatrics: ACVR1 mutations are shared by DMG and the bone disorder FOP, where hypoxia drives disease. Turns out hypoxia signaling is up in ACVR1-mutant pediatric gliomas too. Open access here: doi.org/10.1093/neup...
CryoEM structure of ALK2:BMP6 reveals distinct mechanisms that allow ALK2 to interact with both BMP and Activin ligands https://www.biorxiv.org/content/10.1101/2025.02.07.637115v1
February 11, 2025 at 11:56 AM
It is still possible to sign up for the conference on Bone Morphogenetic Proteins in May! 🧬🧶🧪🩸🔬👩🔬🦴🩺🤗 #BMP #activin #SMAD #ACVR1 #BMPR2 #BMP9 #ACVRL1
www.14thbmpconference2025.com
www.14thbmpconference2025.com
University of Pennsylvania | 14th International BMP Conference
It is our great pleasure to welcome you to the 14th International Bone Morphogenetic Protein (BMP) Conference, held at the University of Pennsylvania's Smilow Center for Translational Research in Phil...
www.14thbmpconference2025.com
March 11, 2025 at 6:59 AM
No need to retrovirally fiddle with ACVR1, just make those cells proliferate the way herpes causes lymphocyte proliferation, and force em to pump out bonemaking juice.
October 11, 2023 at 5:47 AM
No need to retrovirally fiddle with ACVR1, just make those cells proliferate the way herpes causes lymphocyte proliferation, and force em to pump out bonemaking juice.
✅ FOP is an autosomal dominant disorder caused by ACVR1 gene mutations
✅ Onset typically occurs between ages 2-5
✅ Characterized by progressive formation of extra bone in soft tissues
#Rdiag #RadSky #MedSky #MSKRad
February 4, 2025 at 9:44 AM
It's #RareDiseaseDay 🧬
Fibrodysplasia Ossificans Progressiva is 1 in 2 million.
FOP's mutation ACVR1 was discovered April 23rd 2006. 2026 marks the 20th anniversary of that breakthrough! 🎉
🦴 900 known cases 🌏
🦴 4k statistically undiagnosed
🦴 Median lifespan 40s
🦴 Muscles & Tendons turn into bone
Fibrodysplasia Ossificans Progressiva is 1 in 2 million.
FOP's mutation ACVR1 was discovered April 23rd 2006. 2026 marks the 20th anniversary of that breakthrough! 🎉
🦴 900 known cases 🌏
🦴 4k statistically undiagnosed
🦴 Median lifespan 40s
🦴 Muscles & Tendons turn into bone
February 28, 2026 at 3:35 AM
It's #RareDiseaseDay 🧬
Fibrodysplasia Ossificans Progressiva is 1 in 2 million.
FOP's mutation ACVR1 was discovered April 23rd 2006. 2026 marks the 20th anniversary of that breakthrough! 🎉
🦴 900 known cases 🌏
🦴 4k statistically undiagnosed
🦴 Median lifespan 40s
🦴 Muscles & Tendons turn into bone
Fibrodysplasia Ossificans Progressiva is 1 in 2 million.
FOP's mutation ACVR1 was discovered April 23rd 2006. 2026 marks the 20th anniversary of that breakthrough! 🎉
🦴 900 known cases 🌏
🦴 4k statistically undiagnosed
🦴 Median lifespan 40s
🦴 Muscles & Tendons turn into bone
🩸Facts about Myelofibrosis:
JAK Inhibitor Therapy
#Myelofibrosis #MPN #Hematology #JAKInhibitors #Ruxolitinib #Momelotinib #ACVR1 #Hepcidin #Erythropoiesis #Splenomegaly #BoneMarrow #BloodDisorders #ClinicalHematology #MedEd #HemeOnc #HEMEHUB
@gmpnsf.bsky.social @rarediseaseadvisor.bsky.social
JAK Inhibitor Therapy
#Myelofibrosis #MPN #Hematology #JAKInhibitors #Ruxolitinib #Momelotinib #ACVR1 #Hepcidin #Erythropoiesis #Splenomegaly #BoneMarrow #BloodDisorders #ClinicalHematology #MedEd #HemeOnc #HEMEHUB
@gmpnsf.bsky.social @rarediseaseadvisor.bsky.social
March 9, 2026 at 10:46 PM
🩸Facts about Myelofibrosis:
JAK Inhibitor Therapy
#Myelofibrosis #MPN #Hematology #JAKInhibitors #Ruxolitinib #Momelotinib #ACVR1 #Hepcidin #Erythropoiesis #Splenomegaly #BoneMarrow #BloodDisorders #ClinicalHematology #MedEd #HemeOnc #HEMEHUB
@gmpnsf.bsky.social @rarediseaseadvisor.bsky.social
JAK Inhibitor Therapy
#Myelofibrosis #MPN #Hematology #JAKInhibitors #Ruxolitinib #Momelotinib #ACVR1 #Hepcidin #Erythropoiesis #Splenomegaly #BoneMarrow #BloodDisorders #ClinicalHematology #MedEd #HemeOnc #HEMEHUB
@gmpnsf.bsky.social @rarediseaseadvisor.bsky.social
• Synonym: Myositis Ossificans Progressiva
• Is a mutation of the ACVR1 gene, which repairs the skeleton
📆 First identified in the 18th century
💉No Intramuscular injections
🏃Physical therapy & surgery worsen FOP
❗️Often misdiagnosed as cancer
• Is a mutation of the ACVR1 gene, which repairs the skeleton
📆 First identified in the 18th century
💉No Intramuscular injections
🏃Physical therapy & surgery worsen FOP
❗️Often misdiagnosed as cancer
August 3, 2024 at 2:54 AM
• Synonym: Myositis Ossificans Progressiva
• Is a mutation of the ACVR1 gene, which repairs the skeleton
📆 First identified in the 18th century
💉No Intramuscular injections
🏃Physical therapy & surgery worsen FOP
❗️Often misdiagnosed as cancer
• Is a mutation of the ACVR1 gene, which repairs the skeleton
📆 First identified in the 18th century
💉No Intramuscular injections
🏃Physical therapy & surgery worsen FOP
❗️Often misdiagnosed as cancer
Lysosomal degradation of ACVR1-Activin complexes negatively regulates signaling of Activins and Bone Morphogenetic Proteins https://www.biorxiv.org/content/10.1101/2024.01.29.577837v1
Lysosomal degradation of ACVR1-Activin complexes negatively regulates signaling of Activins and Bone Morphogenetic Proteins https://www.biorxiv.org/content/10.1101/2024.01.29.577837v1
BMP/TGF{beta} family ligands have mainly been studied as factors that initiate Smad signaling. Activ
www.biorxiv.org
January 31, 2024 at 10:30 PM
Lysosomal degradation of ACVR1-Activin complexes negatively regulates signaling of Activins and Bone Morphogenetic Proteins https://www.biorxiv.org/content/10.1101/2024.01.29.577837v1
CJ: Diffuse midline glioma, H3K27 latered. ACVR1 mutations associated with pontine location, H3.1K27M and specific OPC precursors. Drug-on CRISPR-Cas9/12 screens with ALK2i in ACVR1-mutation cells hits related to MAPK signaling #AACRprecmed25
March 12, 2025 at 3:37 PM
CJ: Diffuse midline glioma, H3K27 latered. ACVR1 mutations associated with pontine location, H3.1K27M and specific OPC precursors. Drug-on CRISPR-Cas9/12 screens with ALK2i in ACVR1-mutation cells hits related to MAPK signaling #AACRprecmed25
ACVR1 gene was the culprit. Until that day, FOP was a mystery, the cause unknown.
A Alk2 Bone Morphogenetic Protein Type I receptor.
More than 95% of FOP pts carry a heterozygous recurrent mutation, but there are other rarer strains.
FOP is also found in animals: cats, dogs, livestock, whales.
A Alk2 Bone Morphogenetic Protein Type I receptor.
More than 95% of FOP pts carry a heterozygous recurrent mutation, but there are other rarer strains.
FOP is also found in animals: cats, dogs, livestock, whales.
April 22, 2024 at 10:24 PM
ACVR1 gene was the culprit. Until that day, FOP was a mystery, the cause unknown.
A Alk2 Bone Morphogenetic Protein Type I receptor.
More than 95% of FOP pts carry a heterozygous recurrent mutation, but there are other rarer strains.
FOP is also found in animals: cats, dogs, livestock, whales.
A Alk2 Bone Morphogenetic Protein Type I receptor.
More than 95% of FOP pts carry a heterozygous recurrent mutation, but there are other rarer strains.
FOP is also found in animals: cats, dogs, livestock, whales.
A paper using RRID:AB_143165 from @thermofishersci.bsky.social was just published in None. We value the author's support of reproducibility. #OpenScience #accelerateopenscience #RRID
Inhibition of ACVR1 in Cancer-Associated Fibroblasts Suppresses Colorectal Cancer Cell Growth
doi.org
August 6, 2025 at 7:01 AM
A paper using RRID:AB_143165 from @thermofishersci.bsky.social was just published in None. We value the author's support of reproducibility. #OpenScience #accelerateopenscience #RRID
Ex-bench I watch $REGN. Regeneron garetosmab-Activin A mAb blocking ACVR1 signalling; disease-modifying signal. Focus sharpens R&D exposure. https://www.biopharminternational.com/view/regeneron-advances-first-potential-therapy-for-rare-genetic-bone-disorder
March 12, 2026 at 7:03 PM
Ex-bench I watch $REGN. Regeneron garetosmab-Activin A mAb blocking ACVR1 signalling; disease-modifying signal. Focus sharpens R&D exposure. https://www.biopharminternational.com/view/regeneron-advances-first-potential-therapy-for-rare-genetic-bone-disorder
It's International #FOPAwarenessDay 🧬
April 23rd, 2006 — the day when IFOPA.org discovered the gene that causes Fibrodysplasia Ossificans Progressiva.
Until that day, FOP was a total mystery.
The ACVR1 gene mutation triggers the autoimmune system to turn muscles, tendons, & ligaments into bone.
April 23rd, 2006 — the day when IFOPA.org discovered the gene that causes Fibrodysplasia Ossificans Progressiva.
Until that day, FOP was a total mystery.
The ACVR1 gene mutation triggers the autoimmune system to turn muscles, tendons, & ligaments into bone.
April 22, 2025 at 11:04 PM
It's International #FOPAwarenessDay 🧬
April 23rd, 2006 — the day when IFOPA.org discovered the gene that causes Fibrodysplasia Ossificans Progressiva.
Until that day, FOP was a total mystery.
The ACVR1 gene mutation triggers the autoimmune system to turn muscles, tendons, & ligaments into bone.
April 23rd, 2006 — the day when IFOPA.org discovered the gene that causes Fibrodysplasia Ossificans Progressiva.
Until that day, FOP was a total mystery.
The ACVR1 gene mutation triggers the autoimmune system to turn muscles, tendons, & ligaments into bone.
It's a congenital #disability, Fibrodysplasia Ossificans Progressiva, #FOP The gene mutation ACVR1 triggers the autoimmune system to repair muscle, tendon & ligament injuries as bone.
💠 900 cases worldwide
💠 4,000 statistically undiagnosed
💠 Median lifespan 40s
💠 23 in Australia
www.ifopa.org
💠 900 cases worldwide
💠 4,000 statistically undiagnosed
💠 Median lifespan 40s
💠 23 in Australia
www.ifopa.org
IFOPA - International Fibrodysplasia Ossificans Progressiva Association
www.ifopa.org
July 21, 2025 at 11:43 PM
It's a congenital #disability, Fibrodysplasia Ossificans Progressiva, #FOP The gene mutation ACVR1 triggers the autoimmune system to repair muscle, tendon & ligament injuries as bone.
💠 900 cases worldwide
💠 4,000 statistically undiagnosed
💠 Median lifespan 40s
💠 23 in Australia
www.ifopa.org
💠 900 cases worldwide
💠 4,000 statistically undiagnosed
💠 Median lifespan 40s
💠 23 in Australia
www.ifopa.org
Until 2006, nobody understood what causes FOP. One of the rarest diseases, at a rate of 1 in 2 million births, in 3 billion identical twins (I'm one).
But the team, IFOPA.org, working since 1988, had miraculously found the cause on April 23d 2006.
The mutation protein, ACVR1.
But the team, IFOPA.org, working since 1988, had miraculously found the cause on April 23d 2006.
The mutation protein, ACVR1.
November 29, 2024 at 3:26 AM
Until 2006, nobody understood what causes FOP. One of the rarest diseases, at a rate of 1 in 2 million births, in 3 billion identical twins (I'm one).
But the team, IFOPA.org, working since 1988, had miraculously found the cause on April 23d 2006.
The mutation protein, ACVR1.
But the team, IFOPA.org, working since 1988, had miraculously found the cause on April 23d 2006.
The mutation protein, ACVR1.
Fibrodysplasia Ossificans Progressiva is ultra rare, 800 diagnosed 🌏 - statistically 4,000 undiagnosed.
▫️7 treatments in clinical trials
▫️ACVR1 gene 🔬 April 23rd, '06
▫️Cure can help cancer, heart, covid
▫️Misdiag. as cancer or child abuse
▫️FOP affects human & animal
▫️ifopa.org
▫️www.focusonfop.com
▫️7 treatments in clinical trials
▫️ACVR1 gene 🔬 April 23rd, '06
▫️Cure can help cancer, heart, covid
▫️Misdiag. as cancer or child abuse
▫️FOP affects human & animal
▫️ifopa.org
▫️www.focusonfop.com
February 18, 2024 at 9:26 AM
Fibrodysplasia Ossificans Progressiva is ultra rare, 800 diagnosed 🌏 - statistically 4,000 undiagnosed.
▫️7 treatments in clinical trials
▫️ACVR1 gene 🔬 April 23rd, '06
▫️Cure can help cancer, heart, covid
▫️Misdiag. as cancer or child abuse
▫️FOP affects human & animal
▫️ifopa.org
▫️www.focusonfop.com
▫️7 treatments in clinical trials
▫️ACVR1 gene 🔬 April 23rd, '06
▫️Cure can help cancer, heart, covid
▫️Misdiag. as cancer or child abuse
▫️FOP affects human & animal
▫️ifopa.org
▫️www.focusonfop.com
Hot off the press from the RTI: Precision RNAi for Fibrodysplasia Ossificans Progressiva: a combinatorial, unimolecular, allele selective approach
pubmed.ncbi.nlm.nih.gov/42370290/?ut... #RNA #RNATherapeutics
pubmed.ncbi.nlm.nih.gov/42370290/?ut... #RNA #RNATherapeutics
Precision RNAi for Fibrodysplasia Ossificans Progressiva: a combinatorial, unimolecular, allele selective approach - PubMed
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder caused by a dominant mutation in the <i>ACVR1</i> gene (R206H, 97% of cases), leading to debilitating heterotopic ossification (HO)...
pubmed.ncbi.nlm.nih.gov
July 9, 2026 at 10:32 AM
Hot off the press from the RTI: Precision RNAi for Fibrodysplasia Ossificans Progressiva: a combinatorial, unimolecular, allele selective approach
pubmed.ncbi.nlm.nih.gov/42370290/?ut... #RNA #RNATherapeutics
pubmed.ncbi.nlm.nih.gov/42370290/?ut... #RNA #RNATherapeutics
It is a mutation of the ACVR1 gene, which helps the embryo & repairs the skeleton after birth. The body mistakenly repairs injured muscle with new bone, called heterotopic ossification.
Present at birth as bent big toes, it is so rare it is often misdiagnosed as cancer.
Present at birth as bent big toes, it is so rare it is often misdiagnosed as cancer.
October 2, 2023 at 11:40 AM
It is a mutation of the ACVR1 gene, which helps the embryo & repairs the skeleton after birth. The body mistakenly repairs injured muscle with new bone, called heterotopic ossification.
Present at birth as bent big toes, it is so rare it is often misdiagnosed as cancer.
Present at birth as bent big toes, it is so rare it is often misdiagnosed as cancer.
An inducible knock-in mouse model of fibrodysplasia ossificans progressiva shows spontaneous formation of heterotopic ossification also. SA Chakkalakal et al. JBMR Plus 9 October 2025 shorturl.at/vapd3 …novel inducible Acvr1R206H knock-in mouse model …looks promising
An inducible knock-in mouse model of fibrodysplasia ossificans progressiva shows spontaneous formation of heterotopic ossification
Abstract. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder caused by mutations in ACVR1, most commonly the R206H variant. Thes
shorturl.at
September 30, 2025 at 6:50 AM
An inducible knock-in mouse model of fibrodysplasia ossificans progressiva shows spontaneous formation of heterotopic ossification also. SA Chakkalakal et al. JBMR Plus 9 October 2025 shorturl.at/vapd3 …novel inducible Acvr1R206H knock-in mouse model …looks promising
The FDA has approved Pasatru for fibrodysplasia ossificans progressiva. Trial data demonstrated up to 94% reduction in new heterotopic ossification lesions in adults receiving monthly infusions. https://www.empr.com/news/fda-approves-pasatru-garetosmab-fop/
Pasatru Earns FDA Approval to Target Heterotopic Ossification in FOP
The approval was supported by data from the phase 3 OPTIMA trial, which enrolled 63 adults with FOP confirmed by an ACVR1 FOP-causing mutation.
www.empr.com
August 19, 2026 at 10:50 PM
The FDA has approved Pasatru for fibrodysplasia ossificans progressiva. Trial data demonstrated up to 94% reduction in new heterotopic ossification lesions in adults receiving monthly infusions. https://www.empr.com/news/fda-approves-pasatru-garetosmab-fop/
什麼會調高或調低 hepcidin
調高：發炎（IL-6 經 STAT3）、肝臟鐵儲存增加（BMP-SMAD 路徑）—— 這也是慢性病貧血的機轉。
調低：缺鐵、缺氧、紅血球生成活躍（erythroferrone 由紅系前驅細胞分泌）。
Momelotinib 改善 thalassemia 與 myelofibrosis 貧血，靠的就是抑制 ACVR1 而降低 hepcidin。
#血液專科
https://hema-2026.hsiehting.com/q/113-073
調高：發炎（IL-6 經 STAT3）、肝臟鐵儲存增加（BMP-SMAD 路徑）—— 這也是慢性病貧血的機轉。
調低：缺鐵、缺氧、紅血球生成活躍（erythroferrone 由紅系前驅細胞分泌）。
Momelotinib 改善 thalassemia 與 myelofibrosis 貧血，靠的就是抑制 ACVR1 而降低 hepcidin。
#血液專科
https://hema-2026.hsiehting.com/q/113-073
August 3, 2026 at 2:02 PM
什麼會調高或調低 hepcidin
調高：發炎（IL-6 經 STAT3）、肝臟鐵儲存增加（BMP-SMAD 路徑）—— 這也是慢性病貧血的機轉。
調低：缺鐵、缺氧、紅血球生成活躍（erythroferrone 由紅系前驅細胞分泌）。
Momelotinib 改善 thalassemia 與 myelofibrosis 貧血，靠的就是抑制 ACVR1 而降低 hepcidin。
#血液專科
https://hema-2026.hsiehting.com/q/113-073
調高：發炎（IL-6 經 STAT3）、肝臟鐵儲存增加（BMP-SMAD 路徑）—— 這也是慢性病貧血的機轉。
調低：缺鐵、缺氧、紅血球生成活躍（erythroferrone 由紅系前驅細胞分泌）。
Momelotinib 改善 thalassemia 與 myelofibrosis 貧血，靠的就是抑制 ACVR1 而降低 hepcidin。
#血液專科
https://hema-2026.hsiehting.com/q/113-073
Fedratinib 的黑框警語
Wernicke's encephalopathy —— 它會影響 thiamine 吸收，用藥前與用藥中都要監測並補充 thiamine。
另一個要記的機轉：momelotinib 抑制 ACVR1（ALK2）→ 降低 hepcidin → 改善貧血，這是它和其他 JAKi 最大的差別。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Wernicke's encephalopathy —— 它會影響 thiamine 吸收，用藥前與用藥中都要監測並補充 thiamine。
另一個要記的機轉：momelotinib 抑制 ACVR1（ALK2）→ 降低 hepcidin → 改善貧血，這是它和其他 JAKi 最大的差別。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
August 3, 2026 at 11:48 AM
Fedratinib 的黑框警語
Wernicke's encephalopathy —— 它會影響 thiamine 吸收，用藥前與用藥中都要監測並補充 thiamine。
另一個要記的機轉：momelotinib 抑制 ACVR1（ALK2）→ 降低 hepcidin → 改善貧血，這是它和其他 JAKi 最大的差別。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Wernicke's encephalopathy —— 它會影響 thiamine 吸收，用藥前與用藥中都要監測並補充 thiamine。
另一個要記的機轉：momelotinib 抑制 ACVR1（ALK2）→ 降低 hepcidin → 改善貧血，這是它和其他 JAKi 最大的差別。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Myelofibrosis 四支 JAK 抑制劑怎麼選
Ruxolitinib（JAK1/2）：縮脾與症狀改善佳，但劑量相關貧血與血小板低下。
Fedratinib（JAK2/FLT3）：縮脾也顯著，二線用於 ruxolitinib 失敗。
Pacritinib：JAK1-sparing，專為血小板 <50K 設計。
Momelotinib：多抑制 ACVR1，是唯一真能改善貧血的。
記法：Ru-Fe 縮脾王，Pac 救血小板，Mo 補血。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Ruxolitinib（JAK1/2）：縮脾與症狀改善佳，但劑量相關貧血與血小板低下。
Fedratinib（JAK2/FLT3）：縮脾也顯著，二線用於 ruxolitinib 失敗。
Pacritinib：JAK1-sparing，專為血小板 <50K 設計。
Momelotinib：多抑制 ACVR1，是唯一真能改善貧血的。
記法：Ru-Fe 縮脾王，Pac 救血小板，Mo 補血。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
August 3, 2026 at 11:47 AM
Myelofibrosis 四支 JAK 抑制劑怎麼選
Ruxolitinib（JAK1/2）：縮脾與症狀改善佳，但劑量相關貧血與血小板低下。
Fedratinib（JAK2/FLT3）：縮脾也顯著，二線用於 ruxolitinib 失敗。
Pacritinib：JAK1-sparing，專為血小板 <50K 設計。
Momelotinib：多抑制 ACVR1，是唯一真能改善貧血的。
記法：Ru-Fe 縮脾王，Pac 救血小板，Mo 補血。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Ruxolitinib（JAK1/2）：縮脾與症狀改善佳，但劑量相關貧血與血小板低下。
Fedratinib（JAK2/FLT3）：縮脾也顯著，二線用於 ruxolitinib 失敗。
Pacritinib：JAK1-sparing，專為血小板 <50K 設計。
Momelotinib：多抑制 ACVR1，是唯一真能改善貧血的。
記法：Ru-Fe 縮脾王，Pac 救血小板，Mo 補血。
#血液專科
https://hema-2026.hsiehting.com/q/113-011
Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1
#Drosophila
#Drosophila
Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1
#Drosophila
PubMed link
pubmed.ncbi.nlm.nih.gov
July 17, 2026 at 5:23 PM
Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1
#Drosophila
#Drosophila