ThinkGenetic Continues to Shorten Time to Diagnosis with Help from Stealth BioTherapeutics

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Innovative Biopharmaceutical Company Supports Addition of Mitochondrial Genetic Diseases in ThinkGenetic Knowledge Base

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The work we are doing [with Stealth] will shine a light on mitochondrial diseases and help people learn if a mitochondrial abnormality could potentially be the root of their health problems.” - Deepti Babu, Vice President, Communications and Patient Advocacy at ThinkGenetic, Inc.

ThinkGenetic, Inc. (, makers of an artificial intelligence driven-SymptomMatcherTM for genetic disorders, today announced that Stealth BioTherapeutics (Stealth), a clinical-stage biopharmaceutical company developing therapeutics to treat mitochondrial dysfunction, has funded content design, content creation, and clinical trials advertising for mitochondrial diseases.

“The work we are doing will shine a light on mitochondrial diseases and help people learn if a mitochondrial abnormality could potentially be the root of their health problems,” said Deepti Babu, Vice President, Communications and Patient Advocacy at ThinkGenetic, Inc. “Mitochondrial disease is a group of complex genetic disorders associated with numerous symptoms, many of which are often associated with other common medical conditions. This can increase the chance of an incorrect diagnosis and delay the time to an accurate diagnosis. With Stealth’s partnership in the development of this content, we hope to shrink the time needed for an accurate diagnosis."

As a first step in this partnership, ThinkGenetic has published valuable, patient-friendly medical information about mitochondrial disorders, including key definitions of primary mitochondrial disease and primary mitochondrial myopathy. Additional mitochondrial diseases and disease-specific content will continue to be developed in 2018. Those additional mitochondrial diseases will ultimately be included in the ThinkGenetic SymptomMatcherTM, a diagnostic aid developed to help undiagnosed individuals learn how their symptoms align with many genetic disorders, including mitochondrial disease. The ThinkGenetic SymptomMatcher application and in-depth medical content developed by genetic counselors is free for patients and families on

ThinkGenetic is taking a patient-first approach with SymptomMatcher. Based on the collective expertise from helping patients and families in the clinic, genetic counselors at ThinkGenetic create a curated knowledge base of symptoms and “Patient Experience” stories written in clear everyday language to capture what it is like to live with a genetic condition. When combined with a mobile-friendly user interface and proprietary algorithms that consider the decision-making process of a clinical genetic specialist, users can perform a self-assessment that generates a short list of possible genetic diseases associated with their specific symptoms. SymptomMatcher generates a unique detailed report, which patients can print and use as a tool for discussion with their doctor. Improving visibility and access to SymptomMatcher to help more people with undiagnosed diseases is the top priority for ThinkGenetic in 2018. Stealth is aiding this effort by supporting further content development for mitochondrial diseases, including primary mitochondrial myopathy, Leber hereditary optic neuropathy (LHON), and Barth syndrome.

About ThinkGenetic, Inc. – ThinkGenetic locates individuals with diagnosed and undiagnosed genetic diseases using artificial intelligence (AI) solutions. Co-founded by a patient advocate and a genetic counselor, we know firsthand that people can wait a long time to receive a genetic diagnosis. People also have the power within themselves to shorten this diagnostic odyssey. ThinkGenetic helps individuals harness this power by offering trustworthy information to guide them to the help they need, faster. Undiagnosed individuals, patients, and families are our focus and this sets us apart. For more information, visit

About Stealth BioTherapeutics Inc. – Stealth is a privately held clinical-stage biotechnology company focused on the development of therapeutics for diseases involving mitochondrial dysfunction. Stealth believes there is a strong rationale for their lead product candidate, elamipretide, in indications in these diseases based on encouraging preclinical and early clinical data. Stealth is investigating elamipretide in three primary mitochondrial diseases – PMM, Barth syndrome and LHON – as well as in heart failure and dry age-related macular degeneration. Stealth received Orphan Drug Designation of elamipretide for the treatment of PMM from the FDA in September 2017. Stealth is developing a second product candidate, SBT-20, for neurodegenerative diseases. To learn more information about Stealth and their pipeline, visit

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Ruth O'Keefe
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