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August 2019 Newsletter

Publication date: 25 Aug 2019


Serving the Undiagnosed

Obtaining an accurate diagnosis is key to getting appropriate medical treatment. Many patients with rare disorders confront chronic illness, going from doctor to doctor, with no clear answers. Advances in diagnostic technology, including the ability to sequence genomes, has opened the door to matching patients with known rare diseases as well as discovering new ones. Bringing such technologies to patients is a focus of various rare disease organizations and advocacy groups, including the Rare Genomics Institute. The U.S. National Institutes of Health has joined the effort in recent years with the establishment of the Undiagnosed Diseases Network (UDN). The UDN consists of more than a dozen medical and research institutions located throughout the U.S. that seek to find diagnoses for patients who have unidentified chronic conditions. Patients apply to the main UDN website and can be matched to a center nearest their home.

One UDN site is the Stanford Center for Undiagnosed Diseases in Palo Alto, California. Patients who have an objectively defined abnormal condition that has come up negative through extensive conventional testing can access the service by applying online. They will fill out a brief application, including demographic information and details about their undiagnosed condition, and attach a recommendation letter from their physician. Once an application is received, a research coordinator will follow-up to obtain relevant medical records. The application is reviewed by the site’s clinical team and a decision is made on acceptance. 

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Obtaining a Rare Diagnosis

For Danny and Nikki Miller, the search for answers on a mysterious illness that afflicted their two boys, Carson and Chase, was daunting. Initially, there were no indications that anything was amiss. After 7-8 months, Carson’s movements and developmental milestones weren’t matching up with other kids his age. His movements seemed stiff, he wasn’t crawling, he didn’t vocalize much and his hands fisted quite a bit. Cerebral palsy was suspected. Later, after a second child Chase was born, the same pattern of developmental delays reappeared. At this point, Danny and Nikki became very worried. They spent the next two years seeing different specialists with their two boys and getting no answers. Genetic screening, including panel testing, karyotyping and whole exome sequencing was performed with inconclusive results.

In 2017, the Marin County, California family turned to the Stanford branch of the NIH Undiagnosed Diseases Network for help. There were visits with a geneticist, neurologists, a neuro-opthamologist, and blood and skin samples were taken. Whole genome sequencing of all four family members was performed and the mystery began to unravel. A diagnosis of an ultra-rare neurodegenerative mitochondrial disease, MEPAN Syndrome, was established in early 2018. The syndrome is so rare that only 13 patients are known worldwide.

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Rare Genomics Institute Partners with Genomenon on AI-Based Diagnostic Technology

Clear-cut answers do not always come out of genetic sequencing of rare disease patients. Initial analyses from Rare Genomics Institute’s pro-bono sequencing efforts sometimes leads to a dead-end as the matching of a mutation to a disease can become an enormous needle in a haystack proposition. To address this challenge, Rare Genomics Institute has recently partnered with Genomenon to harness the power of Artificial Intelligence (AI) in the interpretation of sequence data. Using Mastermind®, Genomenon’s Genomic Search Engine, genetic data is screened against a database of millions of research publications in search for a match. As a proof of concept, a patient was successfully diagnosed with an inherited connective tissue disease by Rare Genomics utilizing the Genomenon tool. Through partnering with outside collaborators, Rare Genomics Institute seeks to enhance its capabilities in providing rare disease patients with accurate diagnoses.

RareShare is for You!

RareShare members, be sure to log in to your community page regularly. The goal of RareShare is that anyone interested in rare diseases, whether they be patients, family members, caregivers, researchers or physicians, can freely exchange information pertinent to improving lives. To make this work, the more active participants we have, the more effective and beneficial each community becomes for its members. Engage your community by asking questions and getting answers from your fellow members. Check in when you have a chance, others would love to hear from you. Just knowing that you’re there can be an inspiration to your community.

The RareShare team is striving to add and continually update content on the website, including rare disease news links, disease summaries, news stories and podcasts. Listen to our latest podcasts on idiopathic pulmonary fibrosis and the Rare Genomics Task Force ( Let others know, including us via email at, if specific content on our website interests you. The feedback will help us better serve you.
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