Myhre Syndrome Foundation (MSF) is committed to the advancement of Myhre syndrome clinics across the world. Clinics provide vital on-the-ground community support and contribute to ongoing global research.

MSF will fund between $15,000-25,000 per institution up to $60,000 in total per year* for staff funding that meet a detailed criteria and engage in activities that support the global Myhre community.

The outcome of funding includes;

Engaging in Myhre syndrome research that benefits the global community;
Interacting with non-center health care providers of Myhre patients to educate the wider medical community; and
Educating patients, families, and health care providers about Myhre, by having staff take part in live and pre-recorded events.

MSF is pleased to announce that the Massachusetts General Hospital (MGH) in Boston, home to the Myhre Syndrome Clinic has been awarded $24,227 to fund part of the yearly salary for a Clinical Research Coordinator (CRC).

The CRC is a fundamental part of the clinic team, assisting in tasks including, but not limited to;

Collecting and analyzing patient information that contributes to the Myhre Syndrome Natural History Study

Designing research studies using data gathered in clinic
Recruiting patients for research studies
The submission of research protocols and research data preparation
Patient liaison and representation at global Myhre events
Collecting biologic samples from patient encounters and physical transport to laboratory
Performing work on the Myhre syndrome mouse model research including genotyping, data collection and organization, maintenance of laboratory records, and animal phenotyping.

Alec has been visiting the clinic regularly since his diagnosis.

The MGH Myhre Syndrome Clinic has now seen close to 50 patients. For a rare disorder, with only approximately 200 people diagnosed globally, this is an outstanding achievement and we thank the clinic for their dedication, but also the members of the community who have attended. We acknowledge the expense and time required to make the trip and your contribution to research is truly appreciated.

Not only does the clinic provide personalized care but the information gathered at a clinic visit allows the team to monitor the progression of Myhre and gives Dr Lin and her team the information needed to publish research findings. Research papers mean that the global community can understand more about Myhre, which can directly impact the care they receive with their local care teams.

Dr Lin, also serves as a volunteer educator for families and providers around the world. Despite not being able to provide care outside of Massachusetts (due to legal and ethical practices) the clinic team offers considerable education and support across the world.

The MGH Myhre Syndrome Clinic has established itself as a leader in Myhre syndrome clinical research, including the development of Dr. Lindsay’s mouse research (supported in large part by funding from MSF). Articles about Myhre syndrome which included the MGH Myhre Syndrome Clinic Team:

2016 Lin et al. AJMG. (CV phenotypes)
2017 Starr et al., GeneReviews
2019 Lin et al. AJMG (Neoplasia)
2019 Lin. NORD review
2019 Lin. POSSUM.
2022 Lin et al., GeneReviews
2022 Cappuccio et al., AJMG (Tetralogy of Fallot)
2022 Starr et al. Pediatric Developmental Path (Exhaustive review of pathologic features)
2022 Gheewalla et al. AJMG (SMAD4 JP-HHT, comparison Myhre syndrome)

Abstracts

2017 Lin et al. David Smith Workshop (vasculopathy in Myhre syndrome)
2021 Scimone et al. MGH Pediatric Research Day (brain and spine anomalies)
2022 Scimone et al. MGH Clinical Research Day poster (white matter hyperintensities and the mouse model)
2022 Scimone et al. ACMG Clinical Conference (brain and spine anomalies).
2022 Lin, Scimone et al. David Smith Workshop (Strategies to therapy for Myhre syndrome)
2022 Lawton, Scimone et al. CVRC Research Day (Development of a Mouse Model of Myhre Syndrome)
2023 Scimone et al. UC Irvine, CHOC. (White Matter Hyperintensities)
2023. Hartono et al., AAAAI (immunologic phenotype)
2023 Scimone et al. Submitted to the David Smith Workshop (Hearing loss)
2023 Gottlieb et al. To be submitted to the National Society Genetics Counseling (journal writing to help cope)

If you are an institution for Myhre syndrome patients and would like more information on the clinic funding, please email kwears@myhresyndrome.org

*Annual funding is at the MSF Board discretion based on need/other funding priorities.