Primary Immunodeficiency Pediatric Research and Clinical Trials

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Research & Innovation

Children’s Hospital Boston is home to the world’s most extensive research enterprise at a pediatric hospital, and our research informs our treatments.

Children’s researcher Narayanaswamy Ramesh, PhD, conducts molecular studies on primary immunodeficiencies. Eventually his studies may lead to the development of a molecular framework for testing chemicals as potential therapeutic drugs. The immediate goals of his research are to:

  • Identify the molecular basis of novel immune deficiencies that affect cytoskeletal functions.
  • Delineate mechanisms that couple T-cell receptor signaling to the remodeling of the actin cytoskeleton.
  • Understand the role of cytoskelton remodeling in T cell function(s).

His recent investigations have focused on Wiskott-Aldrich syndrome (WAS), which is caused by mutation in the gene encoding for the WAS protein (WASP). Dr. Ramesh and colleagues have been interested in the role of WASP on the cytoskeleton—the cell's dynamic structural framework—which is composed of the protein actin and non muscle myosin. WASP is known to have a role in cytoskeletal remodeling, which is essential to immune-cell functions, such as activation and motion.

Recently, his laboratory identified a novel cellular protein that acts as a negative regulator of WASP. The researchers have demonstrated that the protein, which they have named WIP, acts with WASP to regulate cytoskeletal remodeling during immune-cell activation. WIP is multifunctional, acting as a molecular scaffold and linking a cellular signaling pathway(s) to actin in cytoskeletal remodeling. They are now studying the role of WASP and WIP in immune cell functions that require active cytoskeletal remodeling, such as chemotaxis, homing, and molecular events triggered by cell-cell and cell-matrix interaction.

Transatlantic research cooperation

Wiskott Aldrich Syndrome (WAS) is a rare primary immune deficiency disease causing significant bleeding due to low platelet count and increased incidence of serious infections.Platelet cells are cells found in the blood that help control bleeding. Read more on how Children's has partnered with Genethon of France, to get FDA approval for a Wiskott Aldrich gene therapy trial.

 

A fishy solution for genetics research
Zebrafish are important for biomedical research because they are genetically similar to humans, can grow from an embryo to an adult within a few days and can lay more than 1,000 eggs a week. Learn how Children’s developed the iSpawn to help harvest the zebrafish eggs. See for yourself, and join the conversation on Children’s Vector blog.
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