The UnDx Consortium™ is an initiative of precision medicine technology companies and scientists to explore how a multidisciplinary approach to precision medicine can provide information and answers for patients with undiagnosed diseases.

Goal


Piloting its work with six patients with undiagnosed diseases, the initiative aims to provide metabolomic, microbiome, epigenetic, stem cell and chromosomal imaging information that could be helpful in diagnosing their 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. By marrying genomic data with phenotypic and contextual information, the Consortium believes undiagnosed disease patients can get new information about their diseases, and, more importantly, acquire knowledge that could assist them in managing their illnesses and/or guide their next steps in searching for a diagnosis.

Beginnings


The UnDx Consortium resulted from several conversations between Dr. Katia Moritz and Mr. Douglas Jamison of Harris & Harris Group at the Strategic News Service™ Future In Review® conference in late 2015. These conversations followed the early screening of excerpts from the documentary, Undiagnosed: Medical Refugees, that Dr. Moritz and Crystal Shearman are producing. The documentary had been collaborating 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., to launch a project titled the CLARITY Undiagnosed Challenge.

The virtual medical crowdsourcing effort of the CLARITY Undiagnosed Challenge was based on the prior success of Boston Children’s and Harvard’s CLARITY Challenge, in which two out of the three undiagnosed patients received a conclusive diagnosis. The CLARITY Undiagnosed Challenge was established in an attempt to diagnose five patients whose undiagnosed odyssey was chronicled by the documentary. The CLARITY Undiagnosed Challenge focused on combining the best methods for genomic sequence interpretation with clinical expertise.

The main question that the UnDx Consortium intends to address is whether additional contextual information can be utilized in conjunction with genomic information to provide further hypotheses to the patients in the documentary, Undiagnosed, and perhaps become a model to help other undiagnosed patients. The documentary, in conjunction with sponsorship from the precision health and medicine company, Interome, and with the support of the Strategic News Service™, founded the UnDx Consortium to bring together these new technologies to help provide answers to the patients and their families in the documentary.

Collaborators


The five technology providers that have donated their services to the UnDx Consortium™ include:

• Genome Profiling, LLC of Wilmington, DE, providing epigenetic analysis
• Knight Lab and the American Gut Project at UCSD, providing microbiome analysis
• KromaTiD, Inc. of Fort Collins, CO, providing a chromosomal imaging platform for the detection of chromosomal rearrangements
• Metabolon, Inc. of Durham, NC, providing metabolomic analysis
• ORIG3N, Inc. of Boston, MA, providing both the sample collection and stem cell analysis

Next


On August 16, 2016, the five precision medicine technology providers will be meeting to present their initial findings to a group of precision medicine and undiagnosed disease experts in San Diego, CA. They will, for the first time, collaborate and be joined by Illumina and other thought leaders in an effort to generate new strategies for making progress in diagnosing the undiagnosed. In addition to providing new ideas about diagnosis, the UnDx Consortium aims to continue the discussion on the contextual information that can complement genomic data in diagnosing disease. This first 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.

For additional information, please contact Douglas Jamison at doug@hhvc.com


UnDx Collaborators

Jeb Connor &

Adam Marsh, Ph.D.

Genome Profiling, LLC (GenPro) is a bioinformatics company specializing in the discovery of novel epigenetic biomarkers based on its proprietary, genome-wide methylation profiling platform. Dr. Adam Marsh invented GenPro's underlying software technology while he was a faculty member in the Center for Bioinformatics and Computational Biology and the School of Marine Science and Policy at the University of Delaware. His primary research efforts focused on epigenetics of environmental imprinting in animals living in extreme environments (polar seas, deep oceans). His quantitative epigenetic profiling algorithm work started more than 10 years ago as an innovation of necessity to understand how invertebrate genomes thrived from generation to generation under the polar sea ice in Antarctica. Dr. Marsh is one of the earliest pioneers of computational epigenetics and currently serves as Chief Science Officer and Co-Founder of GenPro. Jeb Connor serves as Chairman, CEO and Co-Founder of GenPro. Mr. Connor's professional experience is grounded in 12 years of successful sales and senior management experience with Hewlett-Packard's Analytical Systems Group (now Agilent Technologies) where he was responsible for all aspects of their global lab automation systems business.


Rob Knight, Ph.D. &

Embriette Hyde, Ph.D.

The Knight Lab uses and develops state-of-the-art computational and experimental techniques to ask fundamental questions about the evolution of the composition of biomolecules, genomes, and communities in different ecosystems, including the complex microbial ecosystems of the human body. It subscribes to an open-access scientific model, providing free, open-source software tools and making all protocols and data publicly available in order to increase general interest in and understanding of microbial ecology and to further public involvement in scientific endeavors.

The goal of the American Gut Project, the world’s largest crowdfunded citizen science project, is to sequence as many as possible human microbiomes — the unique collection of bacteria and other microbes that live in and on us. Its participants are “citizen scientists.” It enables participants to learn about their own body’s microbes while also contributing to the greater scientific effort to learn how the human microbiome is associated with various aspects of our health-from associations with diet to the amount of alcohol someone drinks to whether or not someone has autism or IBD. Because all de-identified data are made freely available, researchers from all over the world can access the data to ask questions about the microbiome and its association with a variety of health and lifestyle factors. American Gut, British Gut, Australian Gut, and Asian Gut are part of the Earth Microbiome Project, a massive effort to analyze microbial communities across the globe. It is also a participant in the White House’s newly created National Microbiome Initiative. The American Gut Project was co-founded by Rob Knight, Ph.D., professor of pediatrics and computer science and engineering and Director of the Center for Microbiome Innovation at UC San Diego, and is currently managed by Embriette Hyde, Ph.D., an Assistant Project Scientist performing DNA sequencing with the UC San Diego's Institute for Genomic Medicine.


 

Christopher Tompkins, Ph.D.

KromaTiD, Inc. provides products and services for mutation detection and disease diagnosis. KromaTiD’s patented Directional Genomic Hybridization™ (dGH™) chromosome imaging platform enables detection of all types of chromosomal rearrangements including previously undetectable cryptic inversions. KromaTiD’s research products and services are paving the way to a deeper understanding of genetic diseases, including cancers and developmental disorders. KromaTiD’s dGH™ technology combines bioinformatics driven design of unique single-stranded synthetic probes with strand-specific hybridization strategies, and is the only genomics approach capable of detecting DNA sequence, location and orientation in a single test. Assay design with dGH™ provides extremely strong signal strength, eliminates background, and detects small chromosomal rearrangements with high resolution. Christopher Tompkins Ph.D., serves as the President and General Manager of KromaTiD and is a member of the Board of Directors. He has twenty years of pharmaceutical and biotechnology industry experience focused in the areas of process development, operations and the commercialization of new technologies.


John Ryals, Ph.D.

Metabolon’s platforms are powered by its proprietary software and dynamic biochemical reference library of more than 14,000 known and novel compounds. This big data technology allows Metabolon to rapidly and accurately identify and quantify metabolites while automatically filtering out extraneous data, such as data resulting from instrument noise. The result is clean, actionable metabolomics data that is ready for statistical analysis. Metabolomics improves our understanding of health and the influences of diet, drug treatment, genes and lifestyle. While genomics often reveals only predisposition or risk of disease, Metabolon provides a snapshot of the current state of health and actionable information to advance clinical decision-making and research. Dr. Ryals has served as president, CEO and a member of the board of directors.


Robin Smith

ORIG3N is leading a transformation in the understanding and treatment of rare, genetically inherited diseases. Its science is based on Nobel Prize-winning regenerative medicine technology, and its approach will replace the trial-and-error guesswork of diagnosing and treating disease. ORIG3N has established the world’s largest uniformly consented cell repository to better understand the cellular and molecular foundations of disease. The cells are ever-renewing and give rise to a living database of humanity. Robin Y. Smith serves as CEO, bringing over 20 years of startup, science, and entrepreneurial experience to ORIG3N.


© 2017 Undiagnosed Films LLC