Down Syndrome Microbiome Research

The following information was shared with us by Julia Toronczak with Beyond the Waves and does not necessarily represent the views of ENABLE Special Needs Planning.


Just in the 1980’s, the average life expectancy for an individual who has Down Syndrome was around 25. Advances in research have helped alleviate symptoms of congenital heart disease, along with other diseases that are co-morbid with DS. Nowadays, these individuals can live more fulfilling lives and have a life expectancy around the age of 60.

Did you know that individuals who have Down Syndrome are protected from coronary artery disease, hypertension, and most solid tumors, including breast, colon, and skin cancers? Interestingly enough, scientists have discovered that individuals who have leukemia but do not have Down Syndrome end up having a part of the 21st chromosome amplified, which may carry a “leukemia oncogene.”

Joaquin Espinosa, who runs the Espinosa research lab at the University of Colorado Denver, specializes in Down Syndrome and cancer research. His team is currently finding ways to alleviate co-morbidities found with Down Syndrome. He also passionately writes about the importance of including persons who have Down Syndrome into scientific research, as funding for Down Syndrome research is considerably lower than for other conditions.


Over the past decade, microbiome research has exploded in the science world. It’s a really exciting field, since we still don’t know too much about it. Although there’s been various associations made between our microbiota and our health, we have yet to translate that information over to the medical field.


We’re not at the point in time yet where you can get your microbiome sequenced, take it to the doctor, and see what sort of treatments, lifestyle change, or probiotics you should take. But, that doesn’t mean it isn’t a possibility in the future.


I’m really grateful for the opportunity I’ve been given to work in the Knight Lab in the Department of Pediatrics, in the School of Medicine at UC San Diego. It was co-founded by Drs. Rob Knight, Jack Gilbert and Jeff Leach; the project is actively run by the Knight lab. Rob Knight’s lab  is a leader in microbiome research, having held key roles in foundational projects such as the $173 million National Institutes of Health’s Human Microbiome Project. His lab develops both the software for analysis and the molecular protocols that enable microbiome research. .

The American Gut Project is the world’s largest crowd-sourced microbiome research project, and the largest public human microbiome study to be published to date.

The project was created in order to allow anyone to participate in microbiome research, and to provide a means for the research community to learn about the microbiomes in the wild. The microbiome is the collection of bacteria, fungi, viruses, and archaea found in and on the human body.

All of the data collected are publicly available, while protecting and ensuring the privacy of participants.


Nothing! This is purely research, and to be honest, the scientific community hasn’t performed enough basic research to know how best to utilize the microbiome. However, I believe that’s what makes this field so exciting! It’s still relatively new, so it’s incredible to see what new information we’re able to uncover.

Our open access approach with AGP allows researchers around the world to mine the data for meaningful associations between factors such as diet, exercise, lifestyle, microbial makeup and health.

Some interesting things we’ve found that have an impact on the microbiome stem from: diet, antibiotics, and mental health.

Regarding the diet, it has been found that the number of plants one eats has an impact on the diversity of their gut microbiome. For mental health, we’ve found that those who have a mental disorder had gut microbiomes that were more common with other people with that mental disorder.

The gut microbiome also communicates to the brain, and has the potential to influence the behavior and function of the brain and its development.


As for Down Syndrome, I hoped to find a cure for it when I was younger. Little did I know that there was one– abortion. Through growing up with Michael, I continuously seek for the beauty behind Down Ssyndrome and why it’s important to keep the DS community. Something that I’ve fallen in love with is the genuine kindness radiating from these individuals.

Rather than “curing” Down Syndrome, I aspire to find a means of improved public health recommendations for these individuals that could stand to improve their quality of life. Little research has been done around the Down Syndrome population and the microbiome, so it would be really exciting to develop a baseline considering Down Syndrome has a lot of co-morbidity with heart defects, infections, celiac disease, and other diseases we already have microbiome information from.

Many other conditions, such as autism, have had additional research with their microbiomes. A study involving 18 children who have autism was published last year, where those children received fecal transplants that not only improved their gastrointestinal symptoms, but showed that their behavioral symptoms also improved.

In order to do more extensive studies with Down Syndrome in regard to the microbiome, we need to first have a strong baseline of finding what may be different in regards to Down Syndrome. Once this is well established, it provides for further opportunities to move along with clinical trials that can be beneficial to the community.

About the Author:

Hello, I’m Julia, and welcome to Beyond the Waves! My twin brother Michael was my inspiration to make this website. Michael is on the severe side of Down Syndrome, and is completely non-verbal. However, that doesn’t stop him from enlightening those around him with his kindness and happiness. My mission is to share with those who have never had any experience with those in the special needs community a glimpse in the life of someone with a disability. All in order to disband the negative image surrounding the disabled population in today’s society.

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