16p11.2 Deletion Microbiome Project

Investigator: Dr. Evan Elliott


16p11.2 deletion families are invited to participate in a new research opportunity!

The following information is about a research study being done by Dr. Evan Elliott at Bar Ilan University in Israel. If you are interested in learning more or to see if you qualify for participation in this study, please contact Dr. Elliott at the information below.

Our Gut microbiome and health

There are more bacteria living within each of us than there are cells in our bodies (several hundred trillion)! The majority of these are ‘friendly helpers’ that break down our food and fight off nasty bugs. Each individual’s bacteria are unique to them and small changes in this finely balanced community can be enough to cause illness or disorders.  The bacterial composition in the gut is referred to as the gut "microbiome". Recent research has highlighted changes in the gut microbiome of individuals diagnosed with autism spectrum disorder, and possible links have been drawn to behavior and gastrointestinal issues (issues with the stomach and bowel movements). 

What is the connection to "chromosome 16p11.2 deletion"?

Chromosome 16p11.2 deletions are strongly associated with development of autism. Some of the genes, including MAPK3, which are found on Chromosome 16p11.2 are directly involved in the maintenance of the health of the gut and its microbiotic community.  We have found that mice which have the 16p11.2 deletion have a significantly different gut bacterial community, including bacteria which have important functions in metabolism and preventing obesity.  Therefore, differences in the gut microbiome may play a role in the genetic disorder.

What are the main research questions?

  • Do individuals with the 16p11.2 deletion have a different microbiome community?
  • Is the microbiome community found in these individuals known to be involved in behavioral changes, metabolic changes, and susceptibility to obesity?
  • What metabolic changes are seen in the gut of individuals with the 16p11.2 deletion?

How might this study help people in the future?

Learning more about the bacteria that live in our bodies and their effects upon our health may help scientists to develop new methods to treat features of this disorder.  In particular, knowledge about bacteria in the body may help to give proper dietary recommendations and to develop new therapies, such as probiotics.

Are there any advantages to being in the study?

  • The main benefit is the opportunity to take part in a crucial study that may change future health care.
  • The research team hopes to be able to report back a brief summary of your/your child’s gut community composition!
  • In addition, you/your child will receive an analysis of the dominant bacteria in the form of a pie chart (example shown below), along with a short explanation about what this means.

What do I need to do to be in the study?

The only way to investigate bacteria in the gut is to analyze a stool sample, extract the bacteria and record the bacteria's DNA profile. If you/your child are interested in participating, you will receive a stool sample kit in the mail which includes gloves and a hygienic donation kit with instructions (plus a pre-paid postal box to return the sample in). You will also be asked to complete a consent form and a questionnaire about your/your child’s diet and any gastrointestinal health issues.

Samples from siblings?

In order to carry out this research, we will also need to collect samples from individuals who do not carry the 16p11.2 deletion, for reasons of comparison.  The best sample groups would be the siblings of the individual with the 16p11.2 deletion.  Therefore, if there are siblings who have tested negative for the 16p11.2 deletion in the family, we would strongly encourage sending samples from those individuals as well.  It is not mandatory to include siblings in this study; however it would help us to increase the chances of success in this project!
Thank you in advance for your role in this important research project!!!

Principal Investigator Contact Information:

  • Dr. Evan Elliott
  • Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
  • Phone: 972-72-264-4968