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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.



SVAI INTRODUCTION

We’re fascinated with the concept of open collaboration for biomedicine research. The expandability of bright minds working on challenging medical problems is what drives our research cases. Undiagnosed #1 is our first patient collaboration focusing on an unknown genetic condition. We’re once again excited to bring researchers and engineers together to look for answers and create medical insights into this patients unresolved condition. Undiagnosed-1 is the third in our series of research cases, following: Neurofibromatosis Type 2 (NF2), and Papillary Renal-Cell Carcinoma Type 1 (p1RCC). These cases drew hundreds of researchers and engineers from across the nation. Results included: cancer clustering, gene expression, and drug target pathway analysis. Recently we’ve preparing to make some changes. Learn More ↗