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Unlocking hope – Using cloud-based data sharing and analytics to give hope to patients with rare conditions

by Oiendrilla Das, Christine Tsien Silvers, MD, PhD, Christin Siscoe, MSN, RN, CPN, Isaac “Zak” Kohane, MD, PhD, and Shalini Sharma on in Industries, Life Sciences Permalink Share

This blog has been guest-authored by Christin Siscoe, MSN, RN, CPN, a Patient Navigator with the UDNF, and Dr. Isaac “Zak” Kohane, MD, PhD, Principal Investigator of the UDN Data Management Coordinating Center.

Every day, countless individuals grapple with unexplained illnesses, their lives in limbo, as medical experts struggle to identify the cause of their symptoms. Eleven-year-old Cooper’s journey was no different—until his family connected with the Undiagnosed Diseases Network (UDN), a multi-organization research initiative funded by the National Institutes of Health.

Born prematurely, Cooper’s early years were marked by a constellation of perplexing symptoms. After initially meeting developmental milestones, he soon started experiencing gastrointestinal issues, speech delays, swallowing problems, and persistent rashes. As his condition escalated with high fevers, Cooper’s family found themselves in a whirlwind of specialist visits and inconclusive tests. Hope emerged when they connected with the UDN. Genetic testing performed through the UDN revealed changes in his SPINK1 gene. Based on this finding and his clinical symptoms, Cooper was diagnosed with hereditary pancreatitis. However, the puzzle is only partially solved. The underlying cause of his suspected autoimmune condition is still elusive.

For patients like Cooper, the UDN represents hope for answers when all other options have been exhausted. This collaborative network of experts is dedicated to diagnosing and treating conditions that have defied identification for years, even decades. “The UDN’s unique n-of-1 approach for ultra-rare disorders allows for unique patient evaluation,” says Vandana Shashi, MD, Principal Investigator of the UDN Clinical Site at Duke University. “By comparing individual phenotypes and genomes against thousands, we can identify diagnostic variants for these patients. This success stems from unprecedented patient-scientist collaboration and data sharing fostered by the UDN.”

At its heart, UDN involves a sophisticated network of specialized centers, including a Data Management Coordinating Center, a growing network of Clinical Sites, Model Organisms Screening Centers, Metabolomics and Sequencing Cores, and a biorepository. “Advanced computing allows cross-analysis of vast genomic and clinical datasets, unveiling new insights into human diseases and finally uncovering diagnoses for the most elusive rare disorders,” says Shilpa Kobren, Associate Director of Rare Disease Analysis for the UDN Data Management Coordinating Center. Complementing the UDN’s work is the Undiagnosed Diseases Network Foundation (UDNF), a patient-and-family-led organization that bridges the gap between medical research and the daily lives of those affected by undiagnosed conditions. This diverse expertise forms the ‘medical village’ essential for tackling rare and obscure diseases.

Accelerating data and analytical collaboration on the cloud to find answers

The UDN’s primary goals are: 1) to provide answers for patients and families and 2) to advance rare disease research. To scale their efforts and help more patients, the UDN has embraced the advanced cloud capabilities of Amazon Web Services (AWS).

Traditional health data systems separate clinical and research data, limiting insights. In collaboration with AWS, the UDN created a custom, unified platform that integrates research databases with clinician and patient-facing portals, eliminating data silos and enhancing collaboration. The resulting platform secures sensitive patient information while unlocking seamless collaboration amongst multiple teams to accelerate patient diagnoses, thereby improving outcomes.

Building on the success of this platform, UDN is now harnessing additional AWS capabilities to scale up genetic data analyses for faster, more comprehensive results. Central to this effort is joint variant calling, which compares genetic data across thousands of samples and allows researchers to identify and analyze rare genetic variants with greater precision and accuracy. This is contributing to new diagnoses for patients, ending years of uncertainty, and dramatically increasing UDN’s impact, since up to 80% of undiagnosed diseases may have a genetic component. “The collaboration between the UDN, UDNF, and AWS is a powerful example of how technology can revolutionize healthcare,” says Amy Gray, CEO at UDNF. “By breaking down data silos and accelerating research, we are empowering scientists to uncover the mysteries of rare diseases.”

The AWS-UDN-UDNF collaboration is revolutionizing rare disease care through the use of cloud technology, turning patient struggles into hope. The collaboration stands ready to embrace future innovations leveraging the latest purpose-built solutions from AWS, towards continually advancing the frontier of rare disease diagnosis and treatment. Cooper’s case embodies this transformation. “Our ultra-rare and undiagnosed patients are courageous warriors inspiring our work to keep fighting for answers,” says Christin Siscoe, UDNF Patient Navigator and Cooper’s mom. “The collaboration between UDN, UDNF, and AWS holds a beacon of hope, with the promise to reduce time a patient stays undiagnosed and untreated.”

Join Us at re:Invent 2024 for Spreading Hope

By leveraging AWS’s cloud technologies, the UDN and UDNF are turning patient struggles into hope, revolutionizing the landscape of rare disease care. Join us in raising awareness for undiagnosed and rare diseases, and witness firsthand the profound impact of cloud innovations on healthcare.

At AWS re:Invent 2024, AWS’ premier learning conference, we’ll celebrate Cooper’s indomitable spirit by distributing limited-edition pins designed by him. These pins serve a threefold purpose: sharing Cooper’s story, raising awareness about undiagnosed and rare diseases, and highlighting the transformative work of clinicians, researchers, and engineers leveraging AWS cloud technology in healthcare. Join us at the Healthcare and Life Sciences Expo Pavilion in the Venetian to collect your pin and become part of Cooper’s inspiring story of resilience.

“I drew this because the UDN gave me hope that one day I’ll have a name for what’s wrong with me. With science and people working together, the sun will shine bright for me and everyone else with my undiagnosed disease.”- Cooper

Learn more about how AWS can help researchers and clinicians innovate in healthcare and beyond by visiting the AWS for Healthcare and Life Sciences website, or contact the AWS Academic Medical Center team directly.

Oiendrilla Das

Oiendrilla Das

Oiendrilla Das is Customer Advocacy Lead for Life Sciences and Genomics Marketing for AWS. She comes from a background in life sciences marketing, with a specialty focus on life sciences and cloud computing. Oiendrilla holds an MBA degree in marketing and completed her engineering in Biotechnology prior to her MBA degree.

Christine Tsien Silvers, MD, PhD

Christine Tsien Silvers, MD, PhD

Christine Tsien Silvers, MD, PhD, serves as Healthcare Executive Advisor for Academic Medical Centers at AWS. After training at the Massachusetts Institute of Technology, Harvard Medical School, Massachusetts General Hospital, and Brigham and Women’s Hospital, she served as Chief Medical Officer and led Clinical Informatics at two digital health startups for ten years. Board certified in both Emergency Medicine and Clinical Informatics, Chris is passionate about leveraging technology to improve health.

Christin Siscoe, MSN, RN, CPN

Christin Siscoe, MSN, RN, CPN

Christin Siscoe, MSN, RN, CPN, a Patient Navigator with the UDNF, has 18 years of nursing experience as a pediatric nurse, educator, and administrator at Brenner Children's Hospital in Winston-Salem, NC. Christin obtained her BSN from the University of Louisiana at Monroe and her MSN from Chamberlain University. She currently resides in Rayville, Louisiana with her sons, Ayden and Cooper, and niece Elaina. Cooper is a UDN participant and was evaluated at the Duke UDN site, where he was given a partial diagnosis of hereditary pancreatitis. Cooper and Christin still await his rare autoimmune/autoinflammatory diagnosis. Christin dreamed of the day she could combine her advocacy work and nursing experience into a full-time job. As a patient navigator with the UDNF, her dream has prospered. With her recent move to a rural area in Louisiana, she is passionate about making sure all participants are well-served equitably. Aside from aiding participants in their diagnostic odyssey, Christin also aids the foundation in education, advocacy, awareness, outreach, research, and program developments that will continue the growth and sustainability of the UDN and UDNF.

Isaac “Zak” Kohane, MD, PhD

Isaac “Zak” Kohane, MD, PhD

Isaac “Zak” Kohane, MD, PhD, is the Principal Investigator of the UDN Data Management Coordinating Center and the inaugural chair of Harvard Medical School’s Department of Biomedical Informatics, whose mission is to develop the methods, tools, and infrastructure required for a new generation of scientists and care providers to move biomedicine rapidly forward by taking advantage of the insight and precision offered by big data. Kohane develops and applies computational techniques to address disease at multiple scales, from whole health care systems to the functional genomics of neurodevelopment. He also has worked on AI applications in medicine since the 1990’s, including automated ventilator control, pediatric growth monitoring, detection of domestic abuse, diagnosing autism from multimodal data and most recently assisting clinicians using whole genome sequence and clinical histories to diagnose rare or unknown disease patients. He is the inaugural Editor-in-Chief of NEJM AI and co-author of a recent book “The AI Revolution in Medicine." He is a member of the National Academy of Medicine, the American Society for Clinical Investigation and the American College of Medical Informatics.

Shalini Sharma

Shalini Sharma

Shalini Sharma is Sr. Manager of Healthcare Marketing at AWS. She has spent more than two decades working in healthcare and life sciences in technical and marketing roles. Shalini is based in the San Francisco Bay Area.