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Current Research Projects

CCM research comes in all shapes and sizes – it includes multiple academic and medical specialties all addressing different questions related to the illness. Below is a summary of some of the many ongoing research projects at laboratories throughout the world. Members from of these labs have attended the CCM Scientific Meeting in recent years. This group includes researchers in the fields of genetics, vascular biology, pharmacology, neurology, radiology, neurosurgery, proteomics, cell biology as well as biology of zebrafish, mouse and C.elegans (worm) animal models.

  • To learn more about current research results, visit our Facebook pages, facebook.com/AngiomaAlliance and facebook.com/AmyAkersPhD,  and read our newsletters. 
  • To learn more about participating in research, please visit www.angioma.org/registry and consider joining the Cavernous Angioma Patient Registry. By signing up for the patient registry you will be notified about future studies for which you may be eligible to participate.

 

North America

EASTERN US

Angioma Alliance - Angioma Alliance’s research program includes our CCM DNA & Tissue Bank. This program collects biological samples and medical records from CCM patients and provides these important resources to our researchers. To learn more, please visit: www.angioma.org/dna 

Angioma Alliance is also a study site for the Brain Vascular Malformations Consortium (BVMC) research study. The goal of this study is to understand better the genetic factors that influence disease severity. 

BioAxone BioSciences, Inc. – BioAxone is a biopharmaceutical company working to develop a kinase inhibitor drug, BA-1049, for the treatment of CCM. 

Duke University - At genetics lab at Duke studies both the human genetics of CCM uses mouse models of CCM for preclinical drug treatment studies. This group works in collaboration with the University of Chicago to use MRI on the mouse brains to assess the effects of drug treatment.

Hampton University – Researchers at Hampton use zebrafish to study cardiovascular development. It was this team that discovered the CCM1 and CCM2 genes in fish. In fish these genes are called santa and valentine. 

National Institutes of Health - One of the labs at NIH focuses on studying blood vessel systems using a zebrafish model. Zebrafish are an excellent tool when studying the effects of genetic mutations in the vasculature.

University of North Carolina at Chapel Hill- Focusing on pharmacology and chemical interactions, this research group aims to better understand the chemical relay systems that regulate how cells respond to environmental stimuli. Using this strategy this group has discovered unique roles for the CCM proteins.

University of Pennsylvania - A lab at UPenn is very interested in investigating the signaling (molecular) pathways that regulate blood vessel growth. They are studying the CCM molecules, and how they relate to this process and CCM disease. 

University of Rochester - Mutations in the CCM1 gene cause onset of CCM.  A laboratory at the University of Rochester is focused on investigating the function of un-mutated CCM1 protein and how if functions in non-diseased cells.

Yale University - Multiple labs at Yale are studying CCM from different aspects – these include analyzing the molecular structure of the CCM proteins as well as using mouse models to study the function of the CCM proteins in different parts of the brain and throughout the development of the blood vessel system.

 

Mid-West

University of Chicago - The group a the University of Chicago is very interested in understanding the role of inflammation and how it relates to CCM disease. Additionally, this group is using advanced magnetic resonance imaging (MRI) techniques to examine the effects of drug treatment on mice with CCM.

Mayo Clinic - Researchers at the Mayo Clinic are interested in better understanding the natural course of CCM disease and how lesion behavior affects patients with this illness.  This group is currently studying risks associated with bleeding, seizure and pregnancy in individuals with CCM.

Medical College of Wisconsin – This research team investigates the molecules and signaling that regulated blood vessel formation relating to development and tumor growth in cancer, and how these signals may impact CCM disease biology.

University of Michigan - The blood vessels of the brain are unique because the form especially tight junctions between neighboring cells to ensure that the blood they carry does not leak into the brain. This unique junction is termed the ‘blood-brain barrier’ and is the topic of investigation at one U of M laboratory.

 

WESTERN US

Recursion Pharmaceuticals – This biotech start-up is investigating the use of Tempol to treat CCM disease.

University of New Mexico, University of California at San Francisco & the Barrow Neurological Institute - UNM, UCSF and BNI have teamed up with Angioma Alliance to run a genetic research project to investigate the causes of clinical variability between individuals with CCM. This project is part of the Brain Vascular Malformations Consortium and is described at length, HERE

University of California Los Angeles Brain Research Institute – Researchers at this institute study the molecular pathobiology of CCM and are working in collaboration with Duke, University of Chicago and BioAxone to develop BA-1049 drug for CCM.

University of California San Diego - A vascular biology lab at UCSD focuses its work on investigating the molecules the bind blood vessel cells to one another and how these molecules are disrupted in the disease state. 

University of Utah - The research group at the University of Utah uses multiple systems, including mice, to investigate the molecular cause of leak from CCM lesions. This group was the first to discover that statin drugs may have future use as a CCM treatment.

 

CANADA

Samuel Lunenfeld Research Institute - This Canadian research group focuses on the protein level and investiages CCM by learning about it’s interacting partners. By uncovering with which other molecules the CCM proteins interact, these researchers are able to better understand the CCM proteins themselves.

Sick Kids Children’s Hospital - Both zebrafish and C.elegans (worm) models for CCM are being used here to investigate how the three genetic forms of CCM are similar to and different from one another. 

 

EUROPE

FRANCE

INSERM – Grenoble - This French research team focuses its research on how blood vessels interact with extra cellular matrix (surrounding tissue) to provide structure as wells as signals that are essential for proper growth, development and directionality. 

INSERM – Paris - The Parisian group is a leader in developing animal models to better understand the pathogenesis and development process of the familial forms of CCM.

 

GERMANY

Heidelberg University - A vascular biology research team at Heidelberg University studies angiogenesis (blood vessel growth) and uses their expertise in this field to investigate how CCM lesions grow.

University of Duisburg-Essen - Among other things, the research team in Essen is interested in investigating the differences in the blood vessels cells comparing both sporadic and familial CCM.

 

ITALY

IFOM, FIRC Institute of Molecular Oncology – The team at this institute investigates the cellular properties that make CCM blood vessel unique from other blood vessels. 

Niguarda Hospital Genetics Unit - Milan - Researchers in the Genetics Unit investigate causative mutations for CCM disease and are interested in the question of whether or not there are additional genes that cause this illness.

University of Torino & University of Siena - Researchers at these Italian Universities have teamed up to investigate the effects of reactive oxygen species and how the CCM signaling complexes are involved in neutralizing these molecules.

 

SPAIN

University of Santiago de Compostela - This Spanish research team focuses its studies on CCM3 and how this protein is involved in cellular proliferation and signaling complexes.

 

UNITED KINGDOM

University of Edinburgh - This group focuses in the epidemiological aspects of CCM, questions including – how many people are affected?  What are the clinical outcomes for individuals who under surgery compared to those who follow conservative management? 

 

 

 

 Last Updated 3.4.16