Research
Groundbreaking, first-of-its-kind research is now underway to better understand the genetic and cellular drivers of Visceral Myopathy. These visionary studies mark the beginning of a new era in diagnosis, treatment development, and hope for patients and families worldwide.
Research
Groundbreaking, first-of-its-kind research is now underway to better understand the genetic and cellular drivers of Visceral Myopathy. These visionary studies mark the beginning of a new era in diagnosis, treatment development, and hope for patients and families worldwide.
Research
Groundbreaking, first-of-its-kind research is now underway to better understand the genetic and cellular drivers of Visceral Myopathy. These visionary studies mark the beginning of a new era in diagnosis, treatment development, and hope for patients and families worldwide.
Current Projects
Current Projects
The Global Patient Registry
Fly (Drosophila) Models
Cellular Models
Zebrafish Models
Mouse Models
The Global Patient Registry
Objective: To establish an international, multi-center patient registry for pediatric and young adult patients diagnosed with Visceral Myopathy, with particular emphasis on ACTG2-related disorders, including the recurrent R257C variant. Scientific Significance: This Registry is intended to serve as the foundational scientific resource for the global VM research community, enabling:
Natural history studies
Genotype-phenotype correlation analyses
Tissue bio-banking
Basic science and clinical trial development
The Global Patient Registry
Fly (Drosophila) Models
Cellular Models
Zebrafish Models
Mouse Models
The Global Patient Registry
Objective: To establish an international, multi-center patient registry for pediatric and young adult patients diagnosed with Visceral Myopathy, with particular emphasis on ACTG2-related disorders, including the recurrent R257C variant. Scientific Significance: This Registry is intended to serve as the foundational scientific resource for the global VM research community, enabling:
Natural history studies
Genotype-phenotype correlation analyses
Tissue bio-banking
Basic science and clinical trial development
The Global Patient Registry
Fly (Drosophila) Models
Cellular Models
Zebrafish Models
Mouse Models
The Global Patient Registry
Objective: To establish an international, multi-center patient registry for pediatric and young adult patients diagnosed with Visceral Myopathy, with particular emphasis on ACTG2-related disorders, including the recurrent R257C variant. Scientific Significance: This Registry is intended to serve as the foundational scientific resource for the global VM research community, enabling:
Natural history studies
Genotype-phenotype correlation analyses
Tissue bio-banking
Basic science and clinical trial development
Future Projects
WVMF Grant Application
The WVMF accepts qualified research grant applications throughout the year that support and advance its mission, with particular emphasis given to research on genetic and small-molecule therapies for the treatment and cure of pediatric visceral myopathy. Priority is currently given to ACTG2/R257C-related projects.
WVMF Grant Application
The WVMF accepts qualified research grant applications throughout the year that support and advance its mission, with particular emphasis given to research on genetic and small-molecule therapies for the treatment and cure of pediatric visceral myopathy. Priority is currently given to ACTG2/R257C-related projects.
ACTG2/R257C Focus
Approximately 30 genetic variants have been causally linked to Visceral Myopathy to date. Of these, ACTG2/R257C has been identified as the most prevalent, accounting for a heterozygous pathogenic variant in 62% of clinically diagnosed individuals. While adjacent variants may be evaluated concurrently, the Foundation's research strategy prioritizes ACTG2 as the primary focus — with the intent of translating resulting advances to other causal genetic variants as progress is achieved.
ACTG2/R257C Focus
Approximately 30 genetic variants have been causally linked to Visceral Myopathy to date. Of these, ACTG2/R257C has been identified as the most prevalent, accounting for a heterozygous pathogenic variant in 62% of clinically diagnosed individuals. While adjacent variants may be evaluated concurrently, the Foundation's research strategy prioritizes ACTG2 as the primary focus — with the intent of translating resulting advances to other causal genetic variants as progress is achieved.
Pre-Application Consultation
Investigators with a developed research proposal, or an early-stage concept, are encouraged to contact the Foundation in advance of formal submission. The WVMF Scientific Advisory Board offers informal consultation sessions to evaluate a project's hypotheses and scope, and to support refinement of proposals proposals prior to submitting its grant application. The Foundation is currently engaged in this collaborative consultation process with multiple research groups. Inquiries may be directed to Ryan McManigal, WVMF CEO or Sean Kassen, WVMF Executive Director.
Pre-Application Consultation
Investigators with a developed research proposal, or an early-stage concept, are encouraged to contact the Foundation in advance of formal submission. The WVMF Scientific Advisory Board offers informal consultation sessions to evaluate a project's hypotheses and scope, and to support refinement of proposals proposals prior to submitting its grant application. The Foundation is currently engaged in this collaborative consultation process with multiple research groups. Inquiries may be directed to Ryan McManigal, WVMF CEO or Sean Kassen, WVMF Executive Director.