Webinar recap: Genetic essentials for clinical research professionals, Part 2


Last year, Sano CEO Dr. Patrick Short presented a webinar called “Genetics Essentials for Clinical Research professionals.” In it, he explained the fundamentals of genetics in clinical research, explored the trends propelling genetics in drug development, and shared practical applications in drug discovery, development, and delivery. Now, we’re back with part 2, which goes beyond fundamentals and is presented by Sano COO Charlotte Guzzo.

The link to the full webinar is here; a brief summary is below for easy reference.

About the speaker

Charlotte Guzzo

Charlotte Guzzo

Charlotte Guzzo is the Co-Founder and COO of Sano Genetics, a role she has held since February 2017. At Sano, she is instrumental in driving the company's mission to revolutionise medical research and facilitate the world’s transition to personalised medicine. This involves enhancing the participant experience in medical studies through digital solutions, at-home biomarker testing, and long-term participant engagement. Prior to Sano, she conducted postgraduate research at the Wellcome Sanger Institute, focusing on genetics and computational biology, particularly the embryonic origins of childhood cancer. Charlotte also has experience in risk management and regulatory reporting, having worked at JPMorgan Chase in Geneva. Her diverse background and focus on personalised medicine research make her a unique figure in the field of genomics.

Key highlights from the webinar

Advanced genetics concepts in precision medicine

The exploration of advanced genetic concepts has laid the foundation for understanding how genetic variations influence individual health and disease susceptibility. These variations include point mutations, insertions, deletions, and chromosomal rearrangements, each with its potential impact on protein function and, consequently, health. For instance, sickle cell disease arises from a point mutation in the haemoglobin gene, illustrating how a single nucleotide change can have profound effects. 

This section also explored the principles of gene regulation, emphasising the roles of promoters, enhancers, silencers, and transcription factors in controlling gene expression. 

Understanding these genetic nuances is critical for advancing personalised medicine, highlighting the importance of genetic diversity for adaptation and the development of targeted therapies.

Genetics in clinical trial design and execution

The integration of genetics into clinical trial design represents a pivotal shift towards more effective and safer treatment approaches. By leveraging genetic biomarkers for targeted patient selection and dose optimization, clinical trials can now more accurately demonstrate treatment efficacy and safety. 

This approach has been exemplified by the TAILORx trial, which used a 21-gene expression test to stratify breast cancer patients for tailored treatment, significantly refining chemotherapy recommendations. Additionally, adaptive trial designs, as seen in the I-SPY-2 study, allow for the dynamic testing of multiple therapies, focusing on the most promising treatments based on interim genetic data. 

These innovations underscore the transformative potential of genetics in improving clinical trial outcomes and patient care.

Emerging technologies and innovations in genetics

The advent of CRISPR-Cas9 gene editing and artificial intelligence (AI) stands at the frontier of genetic innovation, offering new possibilities for disease treatment and understanding. CRISPR-Cas9's precision in DNA editing enables the correction of genetic defects and the development of personalised cancer therapies by targeting specific genes. Meanwhile, AI's abilities in data analysis and predictive modelling is transforming gene therapy research and pharmacogenomics, facilitating the creation of personalised treatment plans based on an individual's genetic makeup. 

These emerging technologies not only promise to revolutionise the field of genetics but also surface ethical and regulatory challenges that must be navigated to optimise their therapeutic potential.


This webinar not only expanded on the first webinar's foundations but explored several advanced aspects of genetics, the strategic integration of genetics into clinical trials, and the impact of emerging technologies. It highlighted the ongoing journey toward more effective, personalised healthcare solutions, emphasising the need for ethical considerations and technological adaptability in realising the full potential of genetics in medicine.

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