All proceeds go to the Dr. Alan Beggs research project

Lab: Beggs Laboratory – Independent Research lab

Division: Genetics and Genomics Research

Hospital Title: Director, The Manton Centerfor Orphan Disease Research at Children’s Hospital in Boston.

Research Focus Area: Genetics of neuromuscular disease.

Alan Received an AB biology at Cornell U. and PhD in human genetics at John Hopkins University. He completed postdoctoral fellowships in medical genetics at John Hopkins U. and in clinical molecular genetics at Harvard Medical School.

Funding proceeds will go directly to support Dr. Alan Beggs research project on Nemaline Myopathy.

  • Funding proceeds will go directly to support Dr. Alan Beggs research project on Nemaline Myopathy.
  • Research aims to understand the structures and functions of proteins that make up muscle fibers. Identifying new skeletal muscle genes (ACTA1, NEB, etc.) and proteins that we think are important for normal muscle function.
  • Examination of these genes for mutations that cause neuromuscular disease and how these lead to weakness in individuals. Understanding the basis of variability of patient’s symptoms and determination of how these mutations affect muscle function and lead to weakness.
  • Funding for Current Major Project: Working to create Zebra Fish Models with specific genetic mutations that cause myopathies. Why Zebra Fish? Zebra fish hatch within 48hrs after fertilization and are comprised mostly of muscle. Researchers can view the weakness and survival rate of fish testing new therapies. In addition, team is working to develop therapies that target underlying defect responsible for muscle weakness.