Undiagnosed-1: Patient Genomics Research Case
Details
Original Event: https://svai.co/undiagnosed-1
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Important!
- Please join our main group at: https://sv.ai/community
- Applications for this event must be completed through our website.
- We will not be able to accommodate anyone who has not applied and received an invitation to participate.
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See Full Event: https://svai.co/undiagnosed-1
Apply to Participate: https://svai.co/research-apply
UNDIAGNOSED-1
Our next research case is focusing on an undiagnosed patient. We worked with John over the past 8 months to generate relevant data for his case - Now, we're excited to bring this data to our community of researchers and engineers for analysis on June 7th-9th at Invitae in San Francisco!
CASE SUMMARY
John, is a 33-year-old Caucasian male suffering from undiagnosed disease(s) with symptoms including Failure to Thrive (FTT). As an infant, John reports a history of vomiting after breastfeeding and Failure to Thrive (FTT), significant issue in weight gaining despite adequate caloric intake, GI issues, daily lower abdominal pain characterized by burning and nausea. He began to develop chronic vomiting and would vomit as many as 5 times per day.
John is 5’10” tall and weighs 109lbs. He is easily fatigued due to his limited muscle mass and low weight.
DATA
Long Read Whole Genome - Provided by Invitae and PacBio.
Short Read Whole Genome - Provided by Invitae
Exome - Provided by Invitae.
Targeted Panel - Provided by Invitae.
Metabolomics - Provided by OpenOme.
Proteomics - Provided by OpenOme.
Over 200 pages of medical records.
THANK YOU
Huge thank you to Invitae, our host and parter, John, our patient collaborator, our data providers, and all of our sponsors and supporters. There have been a ton of incredible people working to make this event happen!
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See Full Event: https://svai.co/undiagnosed-1
Apply to Participate: https://svai.co/research-apply
Undiagnosed-1: Patient Genomics Research Case