Mutations in the Calcium-Sensing Receptor
This summer I studied a loss-of-function mutation in a calcium-sensing receptor which led to reduced sensitivity to calcium in the body. The subject of my study was a family with Familial Hypocalciuric Hypercalcemia. I determined whether a mutation in the calcium-sensing receptor was responsible for an increased amount of calcium in their blood and a decreased amount of calcium in their urine. I used PCR to determine whether this gene carried a mutation which could impact the effectiveness of this gene. I will also discuss what working at a lab was like and how I was able to explore a career in medicine.