Content

Mardis has focused her studies mainly on cancer genomics in pediatric patients. Her impact on cancer genomics has been due to her advancements in sequencing technologies, and the use of DNA sequencing to investigate different cancers. One of her most well-known and important studies has been her ability to "sequence the first complete genome from an acute myeloid leukemia patient" through sequencing and comparison of normal and tumor cells (AACR). Further, Mardis was the first to ever collect a full genome sequence from different breast cancer patients in a clinical trial, which allowed her to research metastasis of breast tumor genomes. In her work with the Cancer Genome Atlantic Project, Mardis was able to help characterize 20,000+ molecular types of tumors and rare cancers (AACR). Mardis works to advance genome sequencing in order to specialize treatments for cancer patients.

Current Research

Currently, Mardis has been studying cancer genomics by using molecular sequencing data and new precision technologies. Most recently, on January 4th, 2024, Mardis published a new research article with Ann-Kathrin Eisfield in the science journal "Clinical Chemistry". This most recent journal article named "Acute Myeloid Leukemia Genomics: Impact on Care and Remaining Challenges" discusses different factors and contributors that affect a patients care and overall outcome of the disease, while also describing the different fields and problems faced in AML genomics. 

In her recent article "Acute Myeloid Leukemia Genomics: Impact on Care and Remaining Challenges", Mardis evaluates different methods of genome discovery such as cytogenetics, microarray, and sequencing which have allowed for the studying of leukemia over the years (Eisfield & Mardis 2024, 5).  With the use of these techniques, different AML molecular subtypes can be identified and paired with a corresponding treatment. For example, the molecular subtype "FLT3-mutated" is identified and treated with "Midostauring, Gilterinib, and Quizartinib", and evaluated to see its effectiveness (6). Challenges discussed in this article include the negative results immunotherapy has shown in AML studies, and the need for AML inflammatory responses to be studied in risk assessments (9). Further challenges discussed includes ethnic diversity in AML, it has been shown in recent studies that African Americans have had lower survival with AML, and this could be because a number of factors (9). In all, Mardis & Eisfield discuss that it is important to continue specifically studying genomics in different varieties of patients, with different mutations and sequencing, in order to broaden the knowledge of treatment effects and "molecularly targeted therapies and combinations" for patient care (10). 

Mentioned in this article, this sequencing techniques and technologies are possibly largely due to progress made through the Human Genome Project, in which Mardis was a large contributor. For example, the Human Genome Project allowed for the "hybridization of differential fluorescent labeled" DNA or tumors in patients "to the clone-spotted microarray" allowing for images to be shown of different mutations like insertions or deletions in the tumor genome (Eisfield & Mardis 2024, 5). The Human Genome Project also now allows for "PCR-based sequencing of genes of interest from bulk cancer DNA extract" to be tested, in order to identify mutations of the cancer (5). The Human Genome Project was a large accomplishment in producing a DNA sequence of the human genome, which has allowed for developments in medicine and human biological studies. 

Graphic- Image displays a description of cancer genomics, the basis of Mardis' studies.

References

https://www.nationwidechildrens.org/find-a-doctor/profiles/elaine-r-mardis 

https://www.aacr.org/professionals/membership/aacr-academy/fellows/elaine-r-mardis-phd/ 

https://pubmed.ncbi.nlm.nih.gov/38175584/  (primary article citation)

https://www.genome.gov/sites/default/files/genome-old/images/content/cancer_genomics.jpg (graphic link)