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Research

for families & caregivers
SAS REGISTRY
other research

SAS REGISTRY

SATB2-associated syndrome (SAS) is a relatively novel condition with limited amount of individuals diagnosed. Since 2016, Dr. Yuri Zarate has led a genetic registry focused on studying SAS. The project aims to elucidate what problems SAS causes and how it affects individuals over time. The SAS registry also provides the best resource to explore how the genetic makeup of individuals with SAS influences the presence of medical issues and neurodevelopmental problems and to compile information on best management options.

Since enrollment of the first individual with SAS in March of 2016, 149 individuals from over 15 different countries have completed registry data collection as of May of 2019.

 


 

The Registry includes individuals from a broad age spectrum (oldest in the mid-30s) with a median age of 6.5 years.

Gender and age distribution of 149 individuals enrolled in the SAS registry.

 


 

Data generated from the SAS registry has greatly increased our knowledge about this condition with several manuscripts produced and more planned (see Clinical Research).1,2,3,4,5 The SAS registry also offers a large compilation of curated molecular data.

 


 

WHAT IS INVOLVED

There are a few things that need to be completed to be a part of this study registry. The parents or legal guardians perform these steps as necessary. The process includes signing a consent form/ HIPPA release form and completing a questionnaire. Once enrolled in the registry participants are given the option to learn about other research studies directly.


HOW TO PARTICIPATE

To learn more about the process:

SAS Registry & Info sheet pdf

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 3. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 4. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 5. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.

Research efforts by our team and collaborators include patient-based (clinical) and laboratory-based (basic and translational).

CLINICAL RESEARCH

Ongoing clinical research efforts to understand the degree of involvement and to determine best interventions involve the following areas:

  • Speech
  • Behavior
  • Teeth
  • Bone
  • Seizures
  • Growth
  • Differences among individuals with different types of mutations

 

BASIC & TRANSLATIONAL RESEARCH

Other ongoing research efforts concentrate on understanding how the SATB2 gene works and how its alterations lead to the known problems seen in individuals affected with SAS. This also provides a way to explore treatments that could benefit individuals with SAS.

 


References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 3. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 4. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 5. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.