Project/blog link:Family Exome Sequencing BASIS Advisor: Mr. Asher Molk Internship location: Tgen's Center for Rare Childhood Disorders Onsite Mentor: Dr. Vinodh Narayanan, Medical Director
Project Abstract (2017)
According to the National Institutes of Health's Office of Rare Disease Research, around 30 million people have a rare disorder (defined as one that affects less than 200,000 people) in the U.S. alone. Around 80% of these rare diseases are caused by a genetic mutation, and 50% of the affected population are children. The Center for Rare Childhood Disorders is a non-profit clinic associated with the Translational Genomics Institute (TGen) which uses genomic sequencing as a diagnostic tool. Exome sequencing entails looking at a person's complete set of genetic material. The goal of exome sequencing is to create a more tailored and personalized treatment plan for individuals suffering though rare diseases. By researching exome sequencing through the scope of one patient, I hope to identify when this treatment is most effective, its benefits, and shortcomings. This research will not only hopefully diagnose this patient, but add information to scientific databases to benefit any other patient with the same symptoms.