Syngap Research Fund

Research

• The Role of CRISPR-Cas9 in Treating Myhre SyndromeDr. Jane Smith, Dr. John Doe, Dr. Emily Clark

  July 29, 2022

  This study explores the potential of CRISPR-Cas9 gene editing technology in treating Myhre Syndrome. The findings indicate significant improvements in genetic correction and symptom management.

• Innovative Approaches to Managing SMOC1-Related DisordersDr. Michael Brown, Dr. Sarah Johnson, Dr. Lisa White

  October 21, 2023

  This research focuses on novel therapeutic strategies for SMOC1-related disorders. The results highlight the efficacy of targeted treatments in improving patient outcomes and quality of life.

• GPX4 Deficiency and its Impact on Neuromuscular FunctionDr. Robert Green, Dr. Patricia Lewis, Dr. David Harris

  July 4, 2022

  The study investigates the effects of GPX4 deficiency on neuromuscular function. Findings suggest that supplementation with specific antioxidants can mitigate the impact of GPX4 mutations.

Organization members

• 

  Michael Brown

  Executive Director

• 

  Robert Garcia

  Fundraising Director

• 

  Emily Davis

  Research Scientist

• 

  Patricia Brown

  Community Engagement Manager

Patient stories

Mar 16, 2021Patient Stories

Living with Myhre Syndrome: Sarah's Journey

Sarah was diagnosed with Myhre Syndrome at a young age. Despite the challenges, she has shown remarkable resilience. This is her story of overcoming obstacles and raising awareness about this rare condition.

Sarah Johnson

Advocate and Speaker

Apr 22, 2021Patient Stories

Michael's Fight Against Gorham-Stout Disease

Michael was diagnosed with Gorham-Stout Disease, a rare skeletal disorder, in his twenties. His journey has been marked by determination and the support of his loved ones. Learn how he continues to fight every day.

Michael Brown

Advocate and Mentor

May 10, 2021Patient 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