Research participation

Why participate?
Research gives us the tools to improve quality of life for people with a rare disease, from diagnosis, to clinical management, to treatments, and even a cure. Researchers rely on community involvement. Your participation enables you to do more than wait for change – you can drive research forward with us. 

How can I help?
There are several ways individuals can participate in Beck-Fahrner syndrome research, from completing questionnaires to donating a biological sample. To learn more about research opportunities and the research process, view our webinar about the research that is underway here.

Current research opportunities

Principal Investigator: Dr. Jill Fahrner
Principal Institution: Johns Hopkins Medical Institution

Research Study Titles:
Development of Patient iPSC-derived Organic Models for Beck-Fahrner Syndrome: Probing DNA Methylation and Advancing Treatment

Generation of a Cerebral Organoid Model of Beck-Fahrner Syndrome: Toward an Understanding of Disease Mechanism and Amelioration with Target-based Therapies

If you are interested in participating or need additional information, please contact the principle investigator, Dr. Jill Fahrner at:

Principal Investigator: Dr. Rowena Ng
Principal Institution: Kennedy Krieger Institute

About the research study:
This research study aims to identify the unique cognitive profile of Beck Fahrner syndrome (BEFAHRS).

Before clinical trials can be constructed to treat cognitive impairment in genetic diseases like BEFAHRS, scientists must first understand the cognitive phenotype of the disease in order to identify potential outcome measures.

More information about eligibility and study details can be found here.

If you are interested in participating or need additional information, please contact the principle investigator, Dr. Rowena Ng at:

Traveling for research

Where can I stay while visiting the Johns Hopkins Medical Campus?
The Beck-Fahrner Syndrome Foundation has compiled a list of recommended accommodation options based on affordability and proximity to the Johns Hopkins Hospital and Medical Campus. View our recommended accommodations here.

Where can I find a map of the area?
View the Johns Hopkins Medical Campus map and visitor guide here.

What kind of financial support programs are available?
Families affected by Beck-Fahrner syndrome can apply for our travel support grant available on our website here.

Miracle Flights provides free commercial flights to those in need of medical care far from home. To find out if your family is eligible, visit their website here.

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