Patient Assessments

Join us in Boston this October!

We are excited to offer the opportunity to participate in upcoming patient research assessments at Boston Children’s Hospital. This event is a significant means to advancing our understanding of pathogenic variants on the MEF2C gene. We hope you will join us!

The assessments will take place on October 17 & 18, 2024 at Boston Children’s Hospital.

Why participate?

We are coordinating closely with the hospital to ensure a comprehensive and supportive experience for all participants. The assessment will include various evaluations which are crucial in enhancing our research and understanding of MEF2C. These assessments are a very important piece of clinical trial readiness, and will help us to create the biomarkers necessary for efficient clinical trials of our patients.

Your participation is not only valuable in taking treatments to clinical trial for our patients but also offers the chance to connect with specialists who are deeply committed to improving care for our patients.

Please let us know if you are interested in participating or if you have any questions. Email us and we’ll help you get involved:

Hear from Wendy Chung, M.D., Ph.D., clinical and molecular geneticist, chief of the Department of Pediatrics at Boston Children’s Hospital and professor at Harvard Medical School, about the importance of this research.

More on Patient Research Assessments

Patient research assessments form the backbone of effective healthcare for individuals with rare diseases, guiding every step from diagnosis to treatment and ongoing management.

  • Many rare diseases have complex symptoms that can mimic more common diseases, making them challenging to diagnose. A clinical assessment helps to characterize the disease, which aids in the creation of biomarkers to assess the efficacy of treatments.

  • Patient assessments help track the progression of a disease over time. This is particularly important for rare diseases, which often have variable and unpredictable courses. Regular assessments allow healthcare providers to monitor changes in the condition and adjust treatment plans accordingly.

  • Due to the low prevalence of each specific rare disease, standardized treatment protocols may not exist, or they may be less effective. Patient assessments provide detailed information on an individual’s specific symptoms and disease manifestations, helping to establish more personalized care.

  • Patient assessments provide data that can be used to better understand rare diseases. This information is crucial for developing new treatments and can contribute to medical advances that benefit the broader community of patients with the same or similar conditions.

  • By ensuring accurate diagnoses and effective monitoring, patient assessments can improve overall patient outcomes by ensuring that clinical trials are effective.