Tag: Invitae

SVAI Undiagnosed-1 Collaborative Genomics Research Case: A Call for Bioinformatics and/or Computational Biology Researchers to Get Involved

SVAI Undiagnosed-1 Collaborative Genomics Research Case: A Call for Bioinformatics and/or Computational Biology Researchers to Get Involved

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Editor’s Note: The U.S. Transhumanist Party / Transhuman Party provides this announcement to encourage any of our members and allies with expertise in bioinformatics and/or computational biology to contribute their talents to resolving the medical conundrum of one of our longtime loyal members, John – referred to in the Patient Case Background below as JCM – who has suffered from an undiagnosed condition his entire life. The Undiagnosed-1 Collaborative Genomics Research Case, arranged by the non-profit, volunteer-run organization SVAI, will take place on June 7-9 in San Francisco.  Find out more about this effort at breakthrough medical diagnosis – which could make a lifetime’s worth of difference to John – here. Even if you cannot attend the event in person, you can apply to participate in the research online here. John has generously provided for his data to be made available in an open-source manner so that future researchers into rare diseases could benefit from it and advance the state of medical science. Researchers have already agreed to study the data; one of them, longtime life-extension advocate Kevin Perrott, the CEO and Founder of OpenCures, a company located at the Buck Institute for Research on Aging that helps individuals performing self-directed research to access technologies and education, wishes to use mass spectrometry-based metabolomics and proteomics to find biomarkers of aging, and John has agreed to be a part of that project. John’s quest to discover the causes of his own ailment can thus lead to beneficial insights that could be used to research ways the extend the lifespans of all. The U.S. Transhumanist Party / Transhuman Party fully supports this noble effort and is heartened that many prominent researchers have already stepped forward to participate. However, there can never be enough trained and talented minds working on such endeavors, so, if you have the relevant expertise, we strongly encourage you to get involved.

~ Gennady Stolyarov II, Chairman, United States Transhumanist Party / Transhuman Party, May 21, 2019

PATIENT CASE BACKGROUND

  1. Our patient, JCM, is a 33-year-old Caucasian male suffering from undiagnosed disease(s).
  2. As an infant, the patient, JCM reports a history of vomiting after breastfeeding and Failure to Thrive (FTT).
  3. Since childhood, JCM has had a significant issue in weight gaining despite adequate caloric intake, though his height has remained on the curve. As a child, he also has reported nausea, stomach aches and an overall aversion to food.
  4. In his 20’s, JCM’s GI issues became more severe as he began to have daily lower abdominal pain characterized by burning and nausea. He began to develop chronic vomiting daily and would vomit as many as 5 times per day.
  5. At his current age, JCM is 5’10” tall and weighs 109lbs. He is easily fatigued due to his limited muscle mass and low weight.
  6. He reports several issues: pain and weakness in his knees, a couple of disc herniations, and shoulder dislocations. His GI issues and pain prevents him from attempts on building muscle masses with lifting and protein intake.

Learn more about the Undiagnosed-1 Collaborative Genomics Research Case here. You are encouraged to share this information with others who may be interested and qualified to assist.