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FROM HACKATHON TO HEALING: BIG DATA SOLUTIONS TO BREAST CANCER CHALLENGES

When patients and scientists come together to fuel scientific discovery, advancements are possible in breast cancer research that can ultimately improve patient treatment and outcomes. Susan G. Komen®, the world’s leading breast cancer organization, plays a pivotal role as a convenor of researchers and patient advocates who can work together, share ideas and utilize big data approaches to address immediate needs or identify outstanding challenges in the fight against breast cancer.

“We can impact care for all people and change the way we treat patients in the future by harnessing big data to identify potential new therapies to treat this disease,” said Jerome Jourquin, senior director of Data Science at Susan G. Komen. “When people with unique skillsets and different backgrounds collaborate, we make discoveries that may not otherwise be possible, but these are novel discoveries that have the potential to make a long-lasting impact.”

Susan G. Komen, along with partners UT Southwestern and Lyda Hill Philanthropies, held its first Breast Cancer Hackathon Challenge in 2023 where 54 participants – representing 5 countries, 20 U.S. States and 34 institutions – had 48 hours to address one of three breast cancer challenges using publicly-available patient and/or pre-clinical data. The participants included students, oncologists, breast cancer researchers and data scientists, all bringing their own skillset to the fight against breast cancer. They worked alongside patient advocates who shared their personal perspectives and experiences with hackers so that their work could have the greatest impact on patient outcomes.

The three compelling challenges addressed during the Hackathon were:

  • Topic 1: Predict and visualize combined functional effects of germline (present at birth) and somatic (acquired in life) mutations in breast cancer.
  • Topic 2: Define and compare metabolic states of cell types found in the breast tumor microenvironment.
  • Topic 3: Identify and prioritize personal drug combinations based on the genomic landscape of breast cancer.

Harikrishna Nakshatri, PhD, of Indiana University, led the winning Hackathon team and addressed Topic 1. His team developed a web-based application and identified two new molecules that are associated with a common genetic mutation that is found in 30% to 40% of all breast cancers and is known to increase breast cancer risk. These molecules are believed to work together to drive estrogen receptor-positive (ER+) breast cancer, which accounts for about 70% to 80% of all breast cancers.

“Bringing these multidisciplinary teams together sparked new collaborations and a lot of creativity among the teams and was the first time many of the younger researchers and data scientists had worked with patient advocates,” said Kimberly Sabelko, PhD, vice president of Scientific Strategy and Programs at Susan G. Komen. “The Hackathon was inspiring and impactful – the teams’ work and the resulting two grants we’re funding may help identify new potential drug targets and additional treatment options in the future.”

After the Hackathon, participants were invited to apply for grants from Susan G. Komen to build on the work they started at the event. Dr. Nakshatri’s application was selected through a rigorous peer-review process led by a panel of scientists and patient advocates, and he will receive $200,000 over two years to continue his research. This work will build upon the computational approach taken at the Hackathon that identified these mutations from a large database of patient tumor samples, by using deep learning-based analytical tools to potentially identify even more mutations that may be targets for breast cancer therapies.

Xin Lu, PhD, of University of Notre Dame, will also receive a $200,000 grant over two years to continue work his team started at the Hackathon while addressing Topic 2. His team used machine learning tools to analyze breast cancer datasets and identified a specific subpopulation of immune cells based on their unique metabolism, which are only expressed in tumors and are also known to drive disease progression. Based on their approach, they were honored with the Advocate Choice Award at the event for their efforts to incorporate the patient voice in their project. His research team will advance these initial findings by creating a novel metabolic model to identify molecules that inhibit these cells, and then they will validate the function of these molecules in laboratory experiments to determine their potential as new immunotherapeutic targets.  

“Tackling the intricate challenges in our understanding of breast cancer to enhance patient outcomes remains an ongoing journey,” said Victoria Smart, senior vice president of Mission at Susan G. Komen. “Komen is profoundly appreciative of the unwavering dedication from the research and patient advocacy communities in addressing these challenges. By focusing on the most crucial needs within our communities and investing in groundbreaking research for the prevention, treatment and cure of breast cancer, we are saving more lives. Our progress is fueled by the exceptional leadership of researchers like Drs. Nakshatri and Lu, as well as the transformative efforts unfolding globally.”