I plan to attend medical school after graduation. Currently, I am only a Pre-Med student and have not been exposed to all of the vast medical fields. I want to have the opportunity to try and understand any sort of genetic disease at a deeper biochemical level prior to embarking on my medical journey. The following are three diseases in different fields that I am interested in focusing my semester-long CUE project around:

  1. Achondroplasia is a disease that results in abnormal bone growth with the following clinical symptoms: short stature with disproportionately short arms and legs, short fingers, large head, prominent forehead, and mid-face hypoplasia.1 Achondroplasia is caused by a gene mutation in the FGFR3 gene which makes fibroblast growth factor receptor 3 and is involved in converting cartilage to bone.People who have this disease typically have a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation. Understanding the mechanism of FGFR3 and how it relates to the cause of achondroplasia would be interesting to research for this project. 
  2. Marfan syndrome is a commonly inherited autosomal dominant disorder. This disease occurs in every 10,000 to 20,000 people, and clinical symptoms occur in the eye, skeleton, connective tissue, and cardiovascular systems.3 Marfan syndrome is caused by mutations in the FBN1 gene, which is involved in the formation of microfibrils.3 Investigating how the FBN1 gene functions and learning how those mechanisms have the ability to lead to Marfan syndrome can be very interesting.
  3. Hereditary hemochromatosis is a disease that causes the body to absorb excessive iron from the diet. The excess iron is stored in the skin, heart, liver, pancreas, and joints leading to eventual damage in tissues and organs due to human inability of iron excretion.4 Four types of hereditary hemochromatosis exist and are classified based on the age of onset: Type 1 and type 4 develop symptoms between ages 40 and 60, type 2 is known as juvenile-onset disorder because symptoms begin in childhood, and type 3 is an intermediate between types 1 and 2 with symptoms beginning before age 30.4 Type 1 is a result of mutations in the HFE gene, type 2 occurs from mutations in genes HJV or HAMP, type 3 results from TFR2 gene mutations, and type 4 is due to mutations in the SLC40A1 gene. Looking into type 3 hereditary hemochromatosis could be interesting because it is typically seen in the age group that I am in, and the TFR2 gene encodes for a protein that is directly involved in the uptake of transferrin-bound iron into liver cells.5

https://www.genome.gov/Genetic-Disorders/Achondroplasia
https://www.hopkinsmedicine.org/health/conditions-and-diseases/achondroplasia
https://ghr.nlm.nih.gov/gene/FBN1
https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis#genes
https://ghr.nlm.nih.gov/gene/TFR2

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