Current Research

Launch of Xcelerate RARE








Calling All Researchers

This collaborative event starts May 17, 2023 and features researchers and data scientists to explore key questions using patient-reported data on WSS and other rare pediatric neurodevelopmental diseases. 

Learn more & Join this Data Challenge

Research Studies Recruiting WSS Patients and Families

Share Your Data and Enroll in the WSS Data Collection Program

To accelerate the path for more research and treatment options, the WSS Foundation has partnered with RARE-X, a not-for-profit organization with expertise in curating the best surveys for drug development and clinical trials. Learn more and enroll at

Pilot Study to Develop a Cognitive Profile on WSS (ages 7 - 18)

Dr. Rowena Ng with Kennedy Krieger Institue and Dr. Jacqueline Harris with Johns Hopkins University are recruiting participants for their pilot study on cognitive functioning in individuals with Wiedemann-Steiner syndrome. This study involves your child (age 7 to 18) completing a battery of cognitive measures that takes about 1.5-2 hours at the Kennedy Krieger Institute in Baltimore, Maryland USA, and for caregivers to complete remote questionnaires about their child’s day to day behaviors. To enroll in the study, a copy of your child’s genetic test results is needed to confirm the diagnosis.

Please feel free to contact Dr. Ng at This study is being developed with financial support by the WSS Foundation.


Interest to Expand Study on Cognitive Functioning for Children Younger than 7 years old

Dr. Rowena Ng with Kennedy Krieger Institute is willing to expand upon her study in developing a cognitive profile on WSS to assess these younger children to determine if there are early patterns of behavior/cognitive functioning unique to WSS (which can also inform clinicians of features to more clinically assess and offer therapies).

If you’re interested, please contact Dr. Ng at The WSS Foundation is providing financial support for this study. 

Behavioural and Emotional Outcomes in Neurodevelopmental Disorders (BEOND)

Through mid-April 2023, researchers in the United Kingdom are recuriting families of people diagnosed with Wiedemann-Steiner Syndrome for a new study to collect information about changes in behavior, emotion, physical, and mental health for people with genetic syndromes, neurodevelopmental disorders and intellectual disabilities. Any parent or carer of an individual diagnosed with either a genetic syndrome, autism, and/or intellectual disability can participate. 

For more information and to participate, please visit

First Grant Awarded

Our first grant, in the amount of $200,000 has been awarded to Dr. Hans Bjornsson of the University of Iceland. Dr. Bjornsson’s project, Creation of a Specialized WSS Mouse Model to Establish Postnatal Malleability of the Neurological Phenotype in WSS, will take place over the next two years.

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Exciting WSS Study in Italy!

If you are interested in participating in the study being completed by Dr. Livia Garavelli in Italy on C-2/C-3 vertebrae fusion in WSS patients, please download the 4 files below (instructions, purpose of the study, a medical history, and consent). Dr. Garavelli also...

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