Researchers are working across the globe to study DeSanto-Shinawi Syndrome. Animal models currently include research on zebra fish and mouse models. Preliminary results indicate that a multidisciplinary setting is a successful model for evaluating and managing the complex needs of patients with DESSH syndrome. The recent collection of biospecimens will provide a platform to establish a large repository that can serve researchers interested in the condition.
Patient Research Opportunities
Reach researchers worldwide by sharing your patient data, allowing for a better understanding of DESSH. You are the owner of your data and you will have the ability to change or remove it at anytime.
DESSH Patient Registry powered by RARE-X
Contribute to the research at Washington University
Opportunities exist to advance our knowledge and understanding of DeSanto-Shinawi Syndrome. The clinic at Washington University is collecting data for their research and The DESSH Foundation supports their work. We have created a form for patients to seamlessly share their information with these researchers. We hope you will consider contributing by providing your patient medical information.
A guide for DESSH families
Dr. Amanda Smith, a member of The DESSH Foundation's Medical Advisory Board and researcher at Washington University, authored this guide with helpful information about how patient data is used in clinical and pre-clinical research.
A consent to release your medical information
Should you wish to share your information with the researchers at Washington University it is imperative that you sign and attach this consent to the Medical Questionnaire.
A consent to release your photos/videos
Because a feature of DeSanto-Shinawi Syndrome is facial dysmorphisms, photos are beneficial to the research team. Should you choose to upload photos to the Medical Questionnaire, a signed media release form must accompany them.
An Online Catalog of Human Genes and Genetic Disorders
European Journal of Human Genetics
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits
Journal of Medical Genetics - The BMJ
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate