This webinar, hosted by Sano CEO Dr. Patrick Short and featuring David Ochoa, Platform Coordinator at Open Targets, explores the significance of human genetics in pinpointing drug targets, the variety of data sets employed, target safety, and methods of intervention. It also touches on the changing nature of drug modalities and prospective avenues for future research.
As precision medicine trials increasingly depend on genetic eligibility criteria, the process of testing, interpreting results, and guiding patients through their implications becomes a central part of study execution. Genetic counselors serve as a critical resource of information about genetic disorders for healthcare professionals, patients, and the general public, translating complex genomic data into actionable understanding.
Genetic testing has moved from a specialized diagnostic tool to a foundational capability across drug development, clinical trial design, and patient stratification. For biotech and pharmaceutical companies developing precision therapies, understanding how genetic testing integrates into the research lifecycle is no longer optional. It shapes which patients can be identified, how eligibility is confirmed, and whether trials can enroll on time. This post examines how genetic testing is reshaping pharma and biotech, from drug development through to patient engagement, and where the field is headed.
Digital twins are virtual models designed to accurately reflect a physical object or system. The concept comes from engineering and has been applied to complex systems such as airplanes, manufacturing, and even cities. While the use of digital twins in healthcare is still very new, it is already enabling more personalized treatments and creating a better understanding of patient health.
While lifestyle choices and environment can impact risk, genes are often what most affect how likely a person is to develop a disease. People commonly have different versions of a gene throughout a population, and some of these versions are associated with an increase in disease risk. Polygenic risk scores consider these gene variations and can provide a measurement of a person's risk for a specific disease.
For most clinical programs, recruitment is the single largest source of delay. It is often more operationally complex than the trial itself, and when it underperforms, the consequences extend well beyond the enrollment timeline. Protocols stall, costs compound, and treatments reach patients later than they should. The challenge is not simply finding patients. It is identifying the right patients, qualifying them efficiently, and maintaining their engagement across an increasingly complex study lifecycle.
CRISPR (clustered regularly interspaced short palindromic repeats) and CRISPR-associated (Cas) proteins were first characterized as part of bacterial immune defense and later adapted into programmable genome editing tools that enable site-specific DNA modification. This shift from microbial biology to clinical development has made CRISPR a central technology in precision medicine, including the first approved therapies for inherited blood disorders (NSF).
The development of MASH, the advanced stage of nonalcoholic fatty liver disease, is a complex interplay of genetic and environmental factors. Genes like PNPLA3, TM6SF2, GCKR, MBOAT7, and HSD17B13 play pivotal roles in MASH susceptibility. Lifestyle factors, particularly diet and exercise, amplify the genetic influence on MASH risk.
Pharmacogenomics, also known as pharmacogenetics, is a field of research dedicated to investigating how an individual's genetic makeup influences their response to medications. Because pharmacogenomic testing analyzes germline DNA, the results remain valid for life, making PGx a foundational resource for clinical decision-making across a patient's entire care journey.
This webinar, hosted by Sano CEO Dr. Patrick Short and featuring Dr. Dimitar Tonev, an expert in liver disease and hepatology, sheds light on the latest developments in liver disease – particularly metabolic dysfunction-associated steatohepatitis (MASH) – including significant changes and predictions for the future.