Aug 21, 2023

Dr. Kinjal Desai: Medical Genomics Faculty Spotlight

Medical Genomics
By Teresa Brooke-Lynn Coe

Dr. Kinjal Desai focuses her research efforts on understanding the molecular landscape of pediatric brain cancer to bridge the gap between basic science and patient outcomes in the clinic. With a drive towards teaching and education, she also works to highlights the importance effective communication within the scientific community and beyond.

Picture of Dr. Kinjal Desai

Kinjal is currently a research associate in the lab of Dr. Peter Dirks out of The Hospital for Sick Children (SickKids), and a course instructor with the University of Toronto School of Continuing Studies and the Medical Genomics program. Kinjal received her PhD in Genetics from Dartmouth College, focusing on the non-coding/epigenetic variation within the genome that affects breast cancer development. Non-coding elements are parts of DNA that are not genes, rather making up important regulatory regions that can have significant impacts on genes and proteins. Despite not being an “obvious place to look for mistakes, mutations could still have this big role.” Being very interested in these complex genomic elements, Kinjal wanted to take what she had learned in breast cancer and translate it to other cancers. She decided to pursue a postdoctoral fellowship with SickKids and the Dirks Lab, where she could focus on the effects of epigenetic changes on brain development and pediatric brain cancer.

The pivot to brain cancer was sparked by a previous collaboration with Dr. Dirks. The Dirks Lab primarily focuses on the link between stem cell biology, brain development, and tumor growth. Kinjal describes their work as being “very preclinical… and very close to the application of basic research [into clinical practice]” as Dr. Dirks is a practicing neurosurgeon. Being able to affect clinical practice became important to Kinjal, thus she was interested in continuing her collaboration through working directly in the Dirks Lab. Kinjal later describes her overarching career goal as “bridg[ing] the gap between research and patient health outcomes”, so being able to work with a lab that affords her that clinical connection was invaluable.

Her current work with the Dirks Lab focuses on understanding the changes that occur during brain development that leads to paediatric brain cancers. She takes a functional, whole genome approach to this research, utilizing her knowledge of non-coding/epigenetic DNA elements. She is currently studying medulloblastoma, a tumor located in the cerebellum. Because this type of tumor commonly afflicts young children, Kinjal describes her hypothesis as “trying to find out if something goes wrong during brain development itself…while the brain is initially developing in utero.” The development of a fetus is complex, involving the intricate interplay of genes, gene regulation, and signalling to differentiate stem cells (those with the potential to develop into any cell type of the body) into specific tissues and organ systems. Developmental genes are required to be turned on and off at specific points during the process to facilitate the formation of each organ, the timing of which is crucial.

Kinjal explains how there are “key switches that allow stem cells to create the brain”, in that certain conditions must be met to facilitate the appropriate genes are turned on or off to achieve normal brain development. Using mouse models, Kinjal and her team identified a gene that gets switched on for too long during fetal brain development, leading to medulloblastoma tumor formation. She continues, “I was able to block that gene from acting at a stage before the tumor starts and it prevented the tumor from growing.”

On the heels of this exciting discovery, Kinjal also worked with a pharmaceutical company that developed a small molecule inhibitor against this gene, using “mouse models to show that it does work as a proof of principle and does prevent tumors.” As a researcher invested in producing work with clinical impact, Kinjal was thrilled with this collaboration as she was able to show that the inhibitor also prevented the tumor from coming back when used with chemotherapy. Although this research is preliminary at this time, it can have significant patient impacts in the future.

Her medulloblastoma research is now in the process of being published, the paper currently under peer review/revision. Peer review is part of the publishing process where the paper goes through unbiased review by experts in the field who “critique it and ask you to prove what you're doing or…want some additional data to prove hypothesis or your conclusions”. A huge proponent of science communication, Kinjal describes the peer review/revision process as an important aspect of communication within the scientific community, ensuring the information going out into the community is produced with a high level of rigor, “as it should be”.

Kinjal further delineates the importance of communicating within our own community and with the public. Biomedical research is heavily dependent on public trust and public funding, thus there exists a responsibility for those who have such specific knowledge to share it. She explains, “I think that everyone should feel behooved to share what they've been up to in a way that everybody can understand.” She continued to explain that effective communication both within and out of the scientific community can be difficult, but small efforts from many can make a significant difference.

Alongside communicating research, Kinjal highlights the idea of making it accessible, both within the scientific community and the public. Pursuing her undergraduate degree in India, Kinjal acknowledges the difference in obtaining literature there compared to larger North American institutions. She explains: “It's a different scene there and institutions don't always have the money to have subscriptions to expensive academic journals, and it was really hard to do research without reading the literature.” This experience motivates Kinjal to make deliberate moves to make her work, and research in general, more accessible. While she acknowledges that “it's really hard to make your work accessible,” she identifies a few ways in which academics can work to tackle this issue: (1) publish in open access journals when possible to “make your research freely available”; and (2) volunteer, “do science communication and reach out that way”. Overall, she identifies the need for a concentrated group effort by academics make research widely accessible and reaffirms the personal responsibility of each of us.

For her part, Kinjal has been a leading member of RIOT (the Research Information Outreach Team) for the past five years. RIOT is a group connected to the Canadian Cancer Society that aims to increase public awareness of cancer research and innovations. Kinjal spearheads RIOT’s “Community Talks” which has allowed her to develop the way she connects with people and shares her own research as well as the other work within her field.

Kinjal is also a dedicated teacher, instructing two courses with the University of Toronto’s School of Continuing Studies – ‘Women in Science’ and ‘Cancer: Treatments and Hope’. She has also featured as a prominent guest lecturer with the Medical Genomics program for the past four years. Excitingly, Kinjal is now extending her connection with MedGen by leading our foundational Advanced Human Genetics course this September while course coordinator and program director, Dr. Erin Styles, is on sabbatical.

Kinjal is a perfect addition to this course, not only for her vast knowledge of genetics, but also for her passion for education. She explains that she is naturally drawn to teaching, stating “I don't know what it is exactly… I find it very motivating to teach…[and] I find that the whole process very stimulating”. She further explains that she “love[s] teaching because [she] love[s] learning”, she looks forward to testing her own understanding of concepts, critically engaging with students, and exploring ideas and questions. Furthermore, she hopes to bring this course to life by connecting the course content with her practical experiences, having expertise in genetics and functional genomics from her PhD, and clinically relevant cancer research from her post-doctoral work. She explains, “I think it's nice to bring the perspective of someone that's been doing this for 10 [or] 12 years and… I love tying those concepts back to the textbook to show the real-world relevance”. Connecting her research work with her previous teaching, outreach, and life experiences will allow Kinjal to provide a unique perspective to students, setting them up for success in their own post-graduation endeavours.

Kinjal’s own future endeavours remain open and full of opportunity. She “love[s] what [she] does now” with research and teaching and is excited to see how her career progresses in these areas. She particularly highlights a major goal of working to bridge the gap between basic research and patient health outcomes. She describes being very connected to this idea as it sparks both personal and professional interest for her. Although this remains a huge task to tackle, incremental steps by many researchers can make significant progress here, and Kinjal has already taken steps both in and out of the lab to make strides in this space. She further describes that she is excited for the progress of personalized medicine. Advancements in technologies and genomic tools spark tons of opportunities for genomic cancer researchers like Kinjal, especially when it comes to translating these into the clinical space.

Dr. Kinjal Desai is a highly accomplished researcher and teacher, and will be an invaluable resource for our students. We are beyond excited to welcome her to our team, and to see her continued growth throughout her career!