Can the gut microbiome be used to provide valuable information to undiagnosed patients?

This week’s post is a guest post co-written by Doug Jamison and Katia Moritz, collaborators in the Undiagnosed Disease Consortium. This consortium is one of the most promising, exciting efforts toward realizing precision medicine that I have seen, and I’m excited that American Gut gets to work with this superb team!

Imagine that you have a serious illness and doctors have no idea what is wrong with you, much less how to treat it. Even with all our current medical knowledge, there are still far too many patients who struggle with chronic illnesses that remain undiagnosed. Our question, when we reached out to Rob Knight, Ph.D. and Embriette Hyde, Ph.D. at UCSD, was whether the gut microbiome might provide some answers for these patients.

Dr. Knight and Dr. Hyde lead a program called the American Gut Project, administered at one of the premier labs for studying the microbiome in the United States.  We asked if the American Gut Project wanted to collaborate with a program called the UnDx Consortium to see if the microbiome, in conjunction with other technologies, could provide a cohort of six undiagnosed patients with new hypotheses related to their diseases.

The UnDx Consortium is an initiative of precision medicine technology companies and scientists that have come together to explore how a multidisciplinary approach to precision medicine can provide information and answers for patients with undiagnosed diseases.  The purpose of the Consortium is to bring this additional precision medicine information to these undiagnosed patients, and, in a collaborative process, combine this information with genomic and clinical data in order to present new hypotheses and answers for these patients’ diseases.

The UnDx Consortium resulted from several conversations between Dr. Katia Moritz and a Harris & Harris Group portfolio company, Interome, Inc. in late 2015.  Interome is a company combining multiple different types of precision medicine information on a platform that acts as the engine to organize, integrate and interpret this information both for consumers and within the clinical setting. These conversations followed the early screening of excerpts from the documentary, Undiagnosed: Medical Refugees, that Dr. Moritz and Crystal Shearman are producing.

The documentary was being filmed in collaboration with Dr. Isaac Kohane, principal investigator for the Undiagnosed Diseases Network Coordinating Center, Boston Children’s Hospital’s Manton Center for Orphan Disease Research, the Harvard Medical School’s Center for Biomedical Informatics, and Illumina, Inc., in a project titled the CLARITY Undiagnosed Challenge.  This Challenge brought together whole genome sequencing with skilled clinicians to understand how genomic information could help in providing new hypotheses for these patients’ diseases.

As you can imagine, the UnDx Consortium was quite excited when the American Gut project agreed to participate. We immediately turned our attention to figuring out how we could collect longitudinal information related to each patient’s microbiome rather than just collecting one sample.  We decided to provide each of the families with a cooler and 10 pounds of dry ice each week to store the samples of the patients and their family members participating in the project.  Each week, the samples for that week were picked up and 10 more pounds of dry ice were dropped off at their houses.  This went on for four weeks.

Currently, after a successful collection process, the samples are at labs of the American Gut Project being sequenced and analyzed.

On August 16, 2016, the UnDx Consortium will be meeting in San Diego to present its initial findings to a group of precision medicine and undiagnosed disease experts.  The film crew from Undiagnosed: Medical Refugees will be present to gather the final footage for this documentary before the film heads to editing.

This meeting is the beginning of what we hope will evolve into an established forum to explore ways we can combine precision medicine technologies to one day diagnose and ultimately treat disease.  The UnDx Consortium, and the patients that are participating in the UnDx Consortium are grateful to the American Gut Project for its help.  August 16, 2016, should be the start of a new era in providing new hypotheses for those living with undiagnosed diseases.


Doug Jamison is Chairman and Chief Executive Officer of Harris & Harris Group, Inc., a publicly traded venture capital company listed on the Nasdaq Global Market (NASDAQ: TINY). Harris & Harris Group builds transformative companies enabled by disruptive science.  Doug is the Chairman of Interome, Inc.

Katia Moritz, Ph.D., ABPP is a psychologist in the States of Florida, New York and Utah, and is Board Certified in Cognitive and Behavioral Psychology. She is the co-founder and Clinical Director of the NeuroBehavioral Institute and has dedicated her life to treating severe and debilitating anxiety disorders in children and adults. In August of 2010, Dr. Moritz underwent a routine endoscopy and woke up with an unknown syndrome. After seeing doctors all over the country at various facilities, she is still undiagnosed. In her search for help she encountered a world of patients and families that were struggling with all of the same issues. The glaring need to foster awareness has inspired her to do something to initiate change. She created the feature length documentary Undiagnosed based on the stories of these patients, their doctors, and the medical system that is failing to service them.