A revolution of sorts in genetic discoveries over the past couple decades has pushed the envelope in advanced understanding of both rare and common diseases, furthering the development of treatment and prevention for ailments ranging from inflammatory bowel diseases to diabetes based on a study published in Nature Research in the New Year.
Authored by a group of prominent researchers from preeminent institutions in Europe and the United States, the study, published in Nature Research, Jan 2020 was titled “A brief history of human disease genetics.” The authors take the reader on a journey, reviewing breakthroughs in the association of specific genes with particular disorders, progress mostly driven by advances in technology and analytical approaches. Moreover, the authors attempt to develop a framework for medical innovation that can be used to improve clinical care in the field.
Mount Sinai Participation
One of the authors, Judy H. Cho, MD, Dean of Translational Genetics at the Icahn School of Medicine at Mount Sinai, Director of the Charles Bronfman Institute for Personalized Medicine noted for a recent Mount Sinai-originated press release “The future of medicine will increasingly focus on delivering care that is tailored to an individual’s genetic makeup and patterns.” Dr. Cho continued, “Applying this knowledge will help us enhance personalized health and medicine for patients at The Mount Sinai Hospital now and for years to come.”
The researchers say the biggest task in the coming decade will be to optimize and broadly implement strategies that use human genetics to enhance understanding of health and disease and maximize the benefits of treatment. This will require joint efforts by the industry and academia to establish:
- comprehensive inventories of genotype-phenotype relationships across populations and environments;
- proactive measures to address entrenched disparities in scientific capacity and clinical opportunities that benefit individuals and societies across the world;
- a systematic assessment of variant and gene-level function across cell types, states, and exposures;
- improved strategies for turning basic knowledge from assessments into fully developed molecular, cellular, and physiological models of disease development; and
- application of these biological insights to drive new treatment and preventive options.
Numerous prestigious authors participated—see a list here.
Judy H. Cho, MD, Dean of Translational Genetics at the Icahn School of Medicine at Mount Sinai, Director of the Charles Bronfman Institute for Personalized Medicine