Solving the diagnostic odyssey with multi-omics


Catherine Brownstein is an Assistant Professor in Pediatrics at Harvard Medical School and the Assistant Director of the Molecular Genetics Core Facility at Boston Children’s Hospital. Her current work focuses on advancing the fields of genome sequencing and analysis, with an emphasis on identifying complex structural variation. She speaks to Megan Thomas on how genomics can advance drug discovery and development.

MT: Where is technology being implemented to progress the drug discovery process?

CB: By providing a more comprehensive understanding of the genetic basis of disease, genomics can help to identify new targets, develop more effective drugs, and personalise treatments for individual patients. We are getting better at using genomics in the drug discovery process, but it is still in its early stages. Target identification and validation are where there is huge impact; simply put, genomics can be used to identify new drug targets by identifying genes that are overexpressed or mutated in diseased tissues. And, once a potential target has been identified, genomics can be used to validate its role in the disease process.

MT: What challenges does the sector face that technology can help overcome?

CB: The drug discovery sector faces several challenges that can be partially overcome by technological advancements. Some challenges include:

  • High attrition rate: Most drug candidates fail to reach market approval due to inefficacy, toxicity, or other issues. Advanced computational and experimental techniques can help identify and eliminate promising drug candidates earlier in the pipeline.
  • Target validation and predictive toxicology: Advances in genomics, proteomics, transcriptomics, and predictive toxicology provide a deeper understanding of disease pathways and potential targets. In vitro and in silico models are becoming increasingly sophisticated in predicting drug safety profiles and preventing costly and time-consuming clinical trials.
  • Clinical trial optimisation: Advanced statistical methods and data analytics can improve trial design, patient selection, and outcome assessment.

The biggest challenge I can think of, and one that is achievable, is addressing problems in data sharing and collaboration. The drug discovery process generates vast amounts of data, but sharing and collaborating on this data can be challenging due to intellectual property concerns and regulatory barriers. Open-source platforms and data-sharing initiatives are emerging to facilitate collaboration, but more work is needed to establish common data standards and protocols to ensure the integrity and usability of shared data.

MT: Why do you think events like SLAS 2024 are so important?

CB: The rapid pace of scientific discovery and the vast amount of published literature make it challenging for scientists in the drug discovery sector to stay abreast of the latest developments. The Society for Laboratory Automation and Screening (SLAS) plays a crucial role in addressing this challenge by providing a platform for researchers and industry professionals to connect, share knowledge, and learn about emerging technologies and advancements in the field. SLAS conferences serve as invaluable hubs for disseminating cutting-edge research findings and fostering collaboration among scientists from diverse backgrounds. These events feature presentations by leading experts in various aspects of drug discovery, covering topics such as target identification and validation, high-throughput screening, assay development, and data analysis. Researchers gain insights into the latest trends, methodologies, and discoveries shaping the field.

SLAS events also provide ample opportunities for networking and building professional relationships. These connections can lead to fruitful collaborations, joint research projects, and the exchange of expertise, ultimately accelerating the pace of innovation in drug discovery.

I’m a huge fan of Bruce Zetter’s work and am looking forward to being in his moderated session “Expanding Applications for Omics Modalities”. I will pay close attention at the “DEI in the Lab” talk – such an important topic. I’m also excited to hear “AI to Optimize Biomedicine” by Dr Amini. I will also be wandering into random talks because that’s how you discover you are interested in a topic you’ve never thought of before!

SLAS 2024 Supplement, Volume 25 – Issue 1, Winter 2023/2024


Dr Catherine BrownsteinDr Catherine Brownstein is an Assistant Professor in Pediatrics at Harvard Medical School and the Assistant Director of the Molecular Genetics Core Facility at Boston Children’s Hospital. Dr Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets.

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