Summer Studentship profile

Why did you choose this program?

I chose this degree program after seeing firsthand the work done by medical professionals to save lives during a family member's hospitalization. When I interacted with the patients there who live their lives bound to a hospital bed because of their illnesses, I saw how privileged and blessed I am to have the health to pursue my dreams. From this experience, I realized that my passion lies in helping vulnerable individuals. I chose to major in Honours Physiology as it leads to diverse opportunities to save patients with medicine and research, both of which are key in the rapidly progressing scientific community.

What did you get to work on throughout your studentship?

I found that the COVID-19 situation allowed me to experience lab work in a more holistic manner. I spent the first month and a half working on in silico work—performed on computer or via computer simulation—developing my research skills and gaining experience in reading scientific literature. When the lab opened up, I had the opportunity to complete bench work. I analyzed samples using various new techniques such as ion chromatography, various assays, gel electrophoresis, and western blots. I also had the chance to present my work at weekly lab meetings and to the Membrane Protein Disease Research Group as part of its Summer Student Seminar series.

What interested you in the summer studentship program?

As part of a program that so heavily focuses on research, I wanted to get as much hands-on laboratory experience as I could. I had already previously worked in the Alexander Lab the previous summer and as I was familiar and interested in the work it does concerning renal health I decided to return this summer. The program allowed me to continue my guided and practical learning in the lab, an opportunity I know I am fortunate to have.

How has your studentship helped you towards your career aspirations?

The public eye often overlooks medical research—it does not garner as much attention as clinical practice does, which is unfortunate because without research, safe and effective clinical practices would not be possible. This opportunity allowed me to learn various laboratory techniques under the guidance of professionals and the work I did pushed me to ask questions outside of a classroom setting where learning is often standardized—a skill necessary as a medical researcher. The research process is a collaborative pursuit and this opportunity connects me with more experienced people to organically acquire the skills that will eventually help me succeed in my chosen career path.

What has the support from WCHRI and the Stollery Children's Hospital meant to you?

My research concerns a de novo mutation—a mutation that appears in an individual despite not being seen in their parents—of a gene we originally found in a six-year-old female patient. When I looked through papers for patients with mutations in the same gene, I was struck with the difficulties that some children have to face even from infancy. I have a deep appreciation for all the work that WCHRI and the Stollery Children's Hospital Foundation do, especially for those who are among our most vulnerable. This support has encouraged me to continue to pursue this line of work to improve the lives of children and I am grateful for the funders' tireless commitment to supporting life-changing research.

Lay abstract:

Autosomal Dominant Hypocalcemia (ADH) is a childhood disorder resulting in low blood calcium levels and abnormally low parathyroid hormone (PTH) levels. A nine-year-old female experiencing seizures was ushered into the emergency room and after thorough examination, she was found to have normal bone mineral density but low blood calcium levels, low PTH levels and increased urinary calcium excretion. She was then treated with supplemental vitamin D and calcium. Given her symptoms, the genes known to cause ADH were examined twice, but both studies failed to identify a mutation that would cause her disease. Her parents and brother all had normal blood calcium and PTH levels so we sequenced the parents' and children's DNA. This revealed a new mutation in the gene FAM111A.

FAM111A mutations cause the diseases Kenny Caffey syndrome and Gracile bone disease. Both are characterized by low blood calcium levels and low PTH, but also short stature and bony abnormalities. Our patient does not have short stature or bony abnormalities but her other characteristics are consistent with a mutation in the FAM111A gene, causing her disease.

In order to confirm our hypothesis that mutations in FAM111A cause a range of diseases that all include low blood calcium levels, we will examine a model carrying the same mutation as our patient. The objective of this summer research project is to determine if this mutation induces low blood calcium levels and PTH.

Using a variety of techniques, we will examine the model with the mutation and compare the results to the control model, which does not have the mutation. This work will serve to shed light for clinicians, the patient, and the patient's family on the cause of her disorder by demonstrating that mutation in FAM111A causes ADH. These models will also be valuable tools on which to test new forms of therapy that can hopefully later be used to treat her and others with diseases similar to that of our patient.