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Strategic Research Priorities

Values

  • Data produced during research should be shared openly to enable collaboration
  • Research that is synergistic across the family of MAST genes is preferred over single-gene research
  • Patients/caregivers should be directly involved in the research plan

Current Priorities

Jumpstart Program Logo 02JumpStart Program with the Orphan Disease Center

We are proud to announce that we have joined the JumpStart program with the Orphan Disease Center. The Orphan Disease center, a center within the Perelman School of Medicine at the University of Pennsylvania, works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.

As part of this program, our first two research goals are:

  1. Raise $100,000 for potential research grants
  2. Identify 250 patients for potential future research

Network with other rare disease groups

Create a packet for families

  • Resources that can be helpful in the present
  • How to contribute to the long-term research plan

Future Research Priorities

Partner with other research organizations

Explore drug repurposing studies

Develop a clinical symptom questionnaire

Determine which symptoms are most challenging to determine which treatments might have the most daily life impact for patients and caregivers.

Explore biobanking

Explore a natural history study

Host patient/caregiver meet-up meetings

Establish a clinical center of excellence

Explore research grant opportunities