Research

Research Studies

Simons VIP Connect

If you or your child have SETBP1 disorder, please consider joining our registry to grow the size of the SETBP1 natural history and encourage research into this gene. It’s secure, private, and simple to sign up. Find out more about the SETBP1 Society registry through Simons VIP Connect. Read more.

University of Washington Autism Center – Tiger Study

In The Investigation of Genetic Exome Research (TIGER) Study we conduct a comprehensive assessment of individuals with genetic events associated with ASD, ID, and/or DD in order to better describe how different genetic events impact behavior in children and adults. Please see below for a list of genes that we are currently studying in the TIGER study. This list is not comprehensive. The field of genetics is always advancing and additional genes might be added to the list in the future. Read more.

ADNP    ANK2    ARID1B  CHD1    CHD2    CHD8    CTNNB1  CTTNBP2 DSCAM   DYRK1A  FOXP1   GRIN2B  KDM6B   LARP4B  MBD5    MED13L  NCKAP1  PARD3B  POGZ    PTEN    RIMS1   SCN2A   SETBP1  SETD2   STXBP1  TBL1XR1 TBR1    TCF7L2  TRIP12  WAC     WDFY3   WDR33   ZMYND11

Chromosome 18 Registry and Research Society

The Chromosome 18 Registry and Research Society created and support the Chromosome 18 Clinical Research Center at UT Health San Antonio to advance research for those impacted by chromosome 18 genetic changes. They are another registry interested in collecting a natural history that encompasses the SETBP1 gene, and they have ongoing research projects that those with SETBP1 Disorder may participate in.

Doctors studying variants in SETBP1

Dr. Wendy Chung at Simon’s VIP Connect

Can be reached by emailing coordinator@simonsvipconnect.org
You can direct specific questions about your child’s variant/symptoms to Dr. Chung at Simon’s VIP. However, she has stated that her answers will only be as good as the data that is published, of which there is very little. Do not be surprised if there are many answers of “I don’t know.”

Dr. Siddharth (Sid) Srivastava at Boston Children’s Hospital

Dr. Srivastava is a pediatric neurologist with an emphasis on neurodevelopmental disorders including SETBP1 disorder. If you would like to set up an appointment with Dr. Srivastava, you can send an email to Dr. Srivastava’s scheduling assistant.

Dr. Bregje van Bon at Radboud Medical Center in Nijmegen, Netherlands

Dr. van Bon is a clinical geneticist with a specific interest in SETBP1 mutations. She is currently collecting research on individuals with SETBP1 disorder at http://humandiseasegenes.nl/setbp1/.

Research Publications for SETBP1 disorder

Research Publications for SETBP1 gene

Research Models

SETBP1 KO Mouse Model

The characterization and mouse line availability are reported at the IMPC website.