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Myhre Syndrome Foundation

150+ patients
$2M raised
Joined on Sun Jan 15 2023

About

Milestones

  • Natural history study ongoing
  • Identified biomarkers 2 years ago
  • Mouse model created
  • FDA orphan drug status approved

Relevant topics

Monogenic
Basic science
Gene replacement

Description

The Myhre Syndrome Foundation is dedicated to improving the lives of individuals affected by Myhre Syndrome, a rare genetic disorder characterized by distinctive facial features, skeletal anomalies, and developmental delays. The foundation provides support to families, promotes awareness, and funds critical research to uncover potential treatments.

Research Roadmap

Path to a Treatment

  • Identify biomarkers: grants available

  • Fund basic research: grants available

  • Launch natural history study: completed with Ciitizen

  • Construct iPSC lines: completed with Huberman Lab at Cornell

  • Construct mouse models: completed with the Jackson Laboratory

  • Design gene therapies

  • Drug screening 2025

  • Toxicology study 2026

Research

See more

Organization members

  • Michael Brown

    Executive Director

  • Robert Garcia

    Fundraising Director

  • Emily Davis

    Research Scientist

  • Patricia Brown

    Community Engagement Manager

Patient stories

Patient Stories

Emily's Battle with Alkaptonuria

Emily, diagnosed with Alkaptonuria, faces unique challenges every day. Her story is one of perseverance and hope as she navigates life with this rare metabolic disorder. Discover her journey and how she’s making a difference.

Emily Davis

Patient Advocate