ACVR1 Professors and Supervisors

Foteini Mourkiotiمشاهده پروفایل

دانشیار

University of PennsylvaniaUnited States

Foteini Mourkioti is an Associate Professor at the University of Pennsylvania's Perelman School of Medicine , with a joint appointment in the Graduate Groups of Cell and Molecular Biology and Bioengineering . She co-directs the Musculoskeletal Regeneration Program at the Penn Institute of Regenerative Medicine and leads the McKay Orthopaedic Research Laboratory . Research Interests : Muscle Stem Cell Biology Mechanobiology Muscle Regeneration Telomere Biology in Muscular Diseases Fibrodysplasia Ossificans Progressiva (FOP) Cardiomyopathy and Aging Key Research Contributions : Developed the Pax7EGFP mouse model for real-time muscle stem cell tracking Discovered telomere shortening as a critical factor in Duchenne Muscular Dystrophy Elucidated the role of NF-κB in muscle stem cell dysfunction Identified Piezo1's role in stem cell morphological states Characterized fibro-adipogenic progenitor dynamics in FOP Scientific Awards : NIH/NHLBI R01 grant recipient (2019) NASA grant awardee (2020, 2017) American Heart Association grant (2017) Muscular Dystrophy Association grant (2019) University Research Foundation grant (2018) Publications & Collaborations : Over 25 publications in high-impact journals like Science Advances , Nature Protocols , and Cell Reports . Collaborates with Penn Cardiovascular Institute and Pennsylvania Muscle Institute.

پروفایل رسمی دانشگاه

Eileen M. Shoreمشاهده پروفایل

استاد

University of PennsylvaniaUnited States

Eileen M. Shore, Ph.D. is the Cali and Weldon Research Professor in FOP at the University of Pennsylvania's Perelman School of Medicine. She serves as Co-Director of the Center for Research in FOP and Related Disorders and Director of the Developmental Grants Program within the Department of Orthopaedic Surgery. Dr. Shore holds multiple prestigious affiliations including Full Member of the Institute for Human Gene Therapy, Member of the Institute for Translational Medicine and Therapeutics, Member of the Penn Center for Musculoskeletal Disorders, Full Member of the Institute for Regenerative Medicine, and Member of the Penn Medicine Center for Orphan Disease Research and Therapy. Dr. Shore received her B.S. in Biology from the University of Notre Dame (1976), her M.A. in Biology from Indiana University (1978), and her Ph.D. in Cell and Molecular Biology from the University of Pennsylvania (1987). Her research program centers on the genetic regulation of cell differentiation and tissue development through investigations of rare human genetic diseases of extra-skeletal bone formation. She has made groundbreaking contributions to understanding fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), identifying the genetic causes and exploring the cellular and molecular basis of dysregulated stem cell fates. Her work develops in vitro and in vivo models to understand mutation consequences and develop therapeutic strategies for these debilitating conditions. Analysis of Dr. Shore's publication record reveals a consistent focus on heterotopic ossification mechanisms spanning over two decades. Her research has evolved from initial genetic discovery (identifying ACVR1 mutations in FOP and GNAS mutations in POH) to detailed mechanistic studies of how these mutations alter BMP and G-protein signaling pathways. Recent work increasingly examines biomechanical signaling interactions with genetic pathways and immune cell involvement in heterotopic ossification processes, reflecting a sophisticated multi-disciplinary approach to these rare disorders. Dr. Shore maintains an active laboratory environment with numerous students, postdocs, and research specialists. Her lab personnel as of Spring 2019 included students from the Cell and Molecular Biology program, post-doctoral researchers, and research specialists. She collaborates extensively with clinicians and scientists including Frederick Kaplan MD, Rob Mauck PhD, Foteini Mourkioti PhD, Mary Mullins PhD, and Maurizio Pacifici PhD, demonstrating the translational nature of her research bridging basic science and clinical application. Her laboratory focuses on understanding how genetic mutations lead to ectopic bone formation, with particular emphasis on the cellular and molecular regulation of chondrogenesis and osteogenesis in heterotopic ossification. Current projects investigate immune cell roles in supporting heterotopic ossification, biomechanical signaling pathway interactions with ACVR1 signaling, and the regulatory cell fate 'switch' that leads to increased osteogenesis in POH.

پروفایل رسمی دانشگاه

Kelly Wentworthمشاهده پروفایل

استادیار

University of California, San FranciscoUnited States

Kelly Wentworth, MD , is an Assistant Professor in the Department of Medicine at the University of California, San Francisco (UCSF), School of Medicine. Her research is centered on Gs-protein coupled receptor signaling in skeletal development, with a specific focus on craniofacial fibrous dysplasia and McCune-Albright syndrome. Education: BA in Biology, University of Rochester (2003) MD, University of Connecticut School of Medicine (2008) Residency in Internal Medicine, University of Washington (2011) Fellowship in Diabetes, Endocrinology, and Metabolism, UCSF (2017) Non-ACGME Endocrinology Research Fellowship, UCSF (2019) Research Interests: Kelly Wentworth's research investigates the molecular mechanisms underlying rare bone disorders, particularly those involving G-protein signaling. Her work integrates human cellular models, zebrafish, and murine studies to understand disease pathogenesis and identify therapeutic targets. She has a strong interest in heterotopic ossification, fibrous dysplasia, and endocrine-related bone diseases. Her research bridges basic science and clinical applications, aiming to improve patient outcomes in rare skeletal disorders. Publication Trends: Her recent publications (2014–2025) reflect a consistent focus on rare bone diseases, signal transduction, and clinical endocrinology. Key themes include GNAS mutations, ACVR1 signaling, BMP and Wnt pathways, and the use of AI in drug discovery. Her work appears in high-impact journals such as Journal of Bone and Mineral Research , Science Reports , and Pain , demonstrating interdisciplinary collaboration and translational impact. Scientific Awards: ASBMR Rising Star Award Grants and Research Funding: Dr. Wentworth is a Principal Investigator on multiple grants, including NIH R03DE033746 (TGF-Beta signaling in craniofacial FD), NIH K08DE028946 (cellular mechanisms in FD), and a Million Dollar Bike Ride grant on GNAS mosaicism. She also served as Co-Investigator on a project to identify GNAS R201H/C selective inhibitors. Her research is further supported by the Eli and Edythe Broad Stem Cell Fellowship. Labs and Collaborations: She collaborates extensively with Dr. Edward Hsiao and other researchers at UCSF and beyond. Her work is part of a broader network focused on rare skeletal disorders, involving clinical, translational, and basic science approaches.

پروفایل رسمی دانشگاه

Jae-Hyuck Shimمشاهده پروفایل

دانشیار

University of Massachusetts Chan Medical SchoolUnited States

Jae-Hyuck Shim, PhD, is an Associate Professor at UMass Chan Medical School with multiple appointments across the T.H. Chan School of Medicine in both the Department of Genetic and Cellular Medicine and the Department of Medicine's Division of Rheumatology. He also holds a position in the Morningside Graduate School of Biomedical Sciences within the Department of Immunology and Microbiology Program. His research focuses on understanding the molecular mechanisms regulating bone formation and degradation to develop novel therapeutics for skeletal disorders. Dr. Shim received his BS and MS in Biotechnology from Yonsei University in Seoul, Korea, followed by a PhD from Yale University School of Medicine. He completed postdoctoral training and served as an Instructor in Osteoimmunology at Harvard School of Public Health. His research program centers on bone mass regulation, which reflects the coupled balance between osteoblast activity (bone synthesis) and osteoclast activity (bone degradation). His laboratory employs unbiased high-throughput screening to identify proteins controlling osteoblast and osteoclast commitment under pathological conditions, and leverages knowledge from immune system signaling to understand bone cell regulation. Dr. Shim's research has significant therapeutic implications for skeletal disorders including osteoporosis, inflammation-induced bone loss, periodontitis, and rare genetic conditions like fibrodysplasia ossificans progressiva (FOP) and osteogenesis imperfecta. His lab has developed sophisticated in vivo gene transfer technologies using nanoparticles, liposomes, exosomes, and adeno-associated virus (AAV) modified to target bone surfaces and deliver RNA interference or healthy genes to bone cells. Analysis of his 15 most recent publications reveals a strong focus on WNT signaling, MAPK pathways, gene therapy approaches for skeletal disorders, and the molecular mechanisms underlying pathological bone formation and resorption. 2014 ASBMR John Haddad Young Investigator Award 2013 ASBMR Harold M. Frost Young Investigator Award 2011-2012 NRSA Fellowship 2008-2011 Arthritis Foundation Postdoctoral Fellowship 2004-2015 Richard K. Gershon Pre-and/or Postdoctoral Fellowship Dr. Shim currently mentors numerous postdoctoral researchers and leads multiple significant research projects including NIH-funded studies developing bone-targeting AAV-mediated gene therapy for osteoporosis (R01AR078230, PI) and novel approaches to heal bone loss in inflammatory arthritis (R01AR078230, Multi-PI). His lab (Shim Lab) is actively developing gene therapeutics for bone fracture healing, fibrodysplasia ossificans progressiva, and other skeletal rare diseases through collaborations with AAVAA Therapeutics and the International FOP Foundation. His research team has established sophisticated models for studying bone biology, including trabecular bone organoids for investigating localized bone remodeling. The lab's work bridges fundamental bone biology with translational applications, particularly focusing on how to manipulate key signaling pathways (such as ERK MAPK, WNT, and SHN3) to develop novel therapeutic approaches for skeletal disorders affecting millions worldwide.

پروفایل رسمی دانشگاه

Katja Stangeمشاهده پروفایل

پژوهشگر

Research Institute for Farm Animal BiologyGermany

Katja Stange is a postdoctoral researcher at the Leibniz Institute for Farm Animal Biology (FBN) in Dummerstorf, Germany, affiliated with the Institute of Muscle Biology and Growth. Her work focuses on skeletal muscle development and myogenic cell physiology in mammalian systems. PhD in Regenerative Therapies (Charité Universitätsmedizin Berlin, 2015) Diploma in Medical Biotechnology (Technical University Berlin, 2011) Research interests include: Skeletal muscle development Physiological role of myogenic cells Differentiation of myogenic precursors Mechanisms influencing skeletal muscle growth Cell-matrix interactions in muscle biology Developmental signaling pathways (BMP/ACVR1) Recent publications highlight her work on: Low birth weight effects on muscle development Myogenic cell bioenergetics and differentiation 3D bioreactor systems for cell culture Signal transduction in skeletal disorders Comparative muscle biology across species Enzymatic and mechanical approaches to cell isolation Scientific awards include: Sonnenfeld-Stiftung doctoral fellowship (2012-2014) She has contributed to advancing understanding of muscle growth regulation in farm animals while maintaining expertise in myogenic cell isolation techniques, disease modeling, and developmental signaling pathways.

پروفایل رسمی دانشگاه

Eileen Shoreمشاهده پروفایل

استاد

University of PennsylvaniaUnited States

Eileen Shore, PhD, is a Professor of Orthopedic Surgery with a focus on bioinformatics, bone disorders, human genetics, and genomics. Her work explores the molecular mechanisms of fibrodysplasia ossificans progressiva (FOP), a rare genetic condition causing heterotopic ossification. Research interests center on dysregulated BMP signaling, genetic mutations in ACVR1, and therapeutic strategies for FOP. She has contributed to studies on palovarotene efficacy, gene delivery methods, and the role of activin A in disease progression. Her publications highlight interdisciplinary approaches combining molecular biology, genetics, and orthopedic research. Key trends include understanding mutation-driven signaling pathways, developing animal models, and investigating pharmacological interventions for heterotopic ossification.

پروفایل رسمی دانشگاه

Harry Hanمشاهده پروفایل

استادیار

Harvard UniversityUnited States

Harry Han is an Attending Physician and Assistant Professor of Medicine affiliated with Beth Israel Deaconess Medical Center and Harvard Medical School . His clinical and research activities focus on palliative care integration in oncology, medical cannabis applications, and molecular mechanisms in gliomas. Perelman School of Medicine at the University of Pennsylvania University of California San Francisco Medical Center Massachusetts General Hospital Research interests in palliative medicine and oncology are exemplified through studies on: Criteria-based palliative consultation models Opioid infusion safety at end-of-life Medical cannabis in palliative oncology Molecular characterization of pediatric gliomas Gene fusion dynamics in oncogenic pathways Neurotoxicity of transgenic models Publication trends highlight dual expertise in: Clinical palliative care optimization Translational molecular oncology Pharmacological mechanisms in gliomas Quality improvement in symptom management Neurological differential diagnosis Contact: hhan5@bidmc.harvard.edu

پروفایل رسمی دانشگاه

David Goldhamerمشاهده پروفایل

استاد

University of ConnecticutUnited States

David Goldhamer is a Professor in the Department of Molecular and Cell Biology at the University of Connecticut. His research focuses on musculoskeletal development, regeneration, and the pathophysiology of fibrodysplastic ossification. He employs mouse models and genome modification technologies to study muscle-resident stem cells, heterotopic ossification mechanisms, and muscle-bone interactions. Ph.D., Ohio State University Postdoctoral studies: University of Virginia, Fox Chase Cancer Center Research Themes: Regulatory networks in muscle stem cell differentiation, stem cell therapies for musculoskeletal repair, embryonic origins of muscle progenitors, and FOP disease modeling. His work bridges basic genetic studies with translational applications. Recent Publications (2015–2024) highlight studies on ACVR1 mutations, heterotopic ossification, MyoD transcriptional regulation, and Tie2+ progenitor differentiation. Articles span journals like J. Bone Miner. Res. , J. Clin. Invest. , and Genes & Development . Contact: david.goldhamer@uconn.edu

پروفایل رسمی دانشگاه

Elizabeth Brownمشاهده پروفایل

پژوهشگر ارشد

University of OxfordUnited Kingdom

Elizabeth Brown is a Postdoctoral Scientist at the University of Oxford, affiliated with the Centre for Medicines Discovery and the Davies Group: Genomics and Clinical Genome Editing. She is also associated with Adam Wilkinson’s and James Davies’ research groups. Education: BA and MSci from the University of Cambridge; DPhil from the University of Oxford. Her research focuses on genomics, clinical genome editing, and therapeutic target identification in cancers such as triple-negative breast cancer and ACVR1 mutant Diffuse Midline Glioma. She employs CRISPR, transcriptomics, and spheroid-based screening in her work. Elizabeth's recent publications highlight her contributions to hematopoietic stem cell differentiation (2023), Myc heterogeneity in breast cancer (2019), and open collaboration in pediatric brain tumor drug development (2019). Her work bridges molecular biology, bioengineering, and pharmacology to address rare and aggressive cancers. She is actively developing novel protocols for ex vivo expansion of haematopoietic stem cells and their differentiation into granulocytes and monocytes. No scientific awards or formal student supervisory roles are mentioned in the provided text.

پروفایل رسمی دانشگاه

Jacqueline Whitehouseمشاهده پروفایل

عضو هیئت علمی

The University of Western AustraliaAustralia

Jacqueline Whitehouse is an Adjunct Research Fellow at the UWA Medical School , affiliated with the UWA Centre for Child Health Research and The Kids Research Institute Australia . Her research focuses on pediatric brain tumors, particularly medulloblastoma and ependymoma, using preclinical models to study tumor biology and therapeutic interventions.

پروفایل رسمی دانشگاه

Caroline Hillمشاهده پروفایل

استاد پژوهشی

Francis Crick InstituteUnited Kingdom

Dr. Caroline Hill is a Principal Group Leader and Assistant Research Director at The Francis Crick Institute in London, UK, where she heads the Developmental Signalling Laboratory. She received her PhD from the University of Cambridge in 1989 and completed postdoctoral work at the Imperial Cancer Research Fund before establishing her independent research career. Her research focuses on cellular communication mechanisms, particularly the Transforming Growth Factor β (TGF-β) superfamily of signaling molecules, which play critical roles in early embryonic development and cancer progression. Dr. Hill's laboratory employs diverse approaches including zebrafish models, cell culture systems, and computational modeling to understand how these signaling pathways function and how their dysregulation contributes to disease. Her publication record demonstrates consistent high-impact research in developmental biology and signaling, with particular emphasis on NODAL and BMP signaling pathways, morphogen gradient formation, and the molecular mechanisms of TGF-β superfamily receptor activation. Her work bridges fundamental biological mechanisms with potential therapeutic applications in cancer treatment. EMBO membership (2002) Academia Europaea membership (2013) European Academy of Cancer Sciences membership (2015) Royal Society University Research Fellowship (1995) Dr. Hill's research program has evolved from fundamental studies of TGF-β signaling mechanisms to increasingly translational work examining how these pathways can be targeted for cancer therapy, as evidenced by her recent publications exploring therapeutic interventions in tumor models.

پروفایل رسمی دانشگاه