December 2010- We think about the challenges of individualized medicine every day here at the IGM. Each patient has their own unique genome as well as their own unique set of environmental experiences. Together, these variables interact to affect an individual’s state of health and for those that have a disease, the symptoms and the response to treatment. This individuality is glaringly apparent in lysosomal storage disorders (LSDs)—a group of more than 70 inherited conditions, that all involve lysosomes, tiny subcellular structures responsible for the breakdown and recycling of cellular debris. Tay-Sachs disease, a progressive neurodegenerative disorder that leads to death before age 6, is an LSD exemplar. LSDs have been known for more than a century and have a long history here at Hopkins, where among other accomplishments the screening program for Tay-Sachs disease used around the world was developed by pediatric geneticist Mike Kaback and colleagues in the early 1970’s. Unfortunately, there is no cure-all for patients with this group of disorders although new developments in enzyme replacement therapy are making a big difference in some patients. For the most part, however, each patient is treated supportively for his or her symptoms, which can range from mild and barely detectable to severe, with developmental delay, involvement of multiple organ systems and early death.
Patient individuality is a challenge for doctors and is one of the reasons along with limitations in our understanding of disease and limitations in our therapeutic armamentarium why we are not always successful in efforts at treatment. It is critical for patient care and research here at the IGM that we learn more about LSDs and other disorders. Our physician researchers practice individualized medicine every day, talking to patients, parents, caregivers to learn as much as possible. And researchers like Gustavo Maegawa bring what they learn from patients in the clinic back to the laboratory, to further our understanding of what goes wrong so that sooner rather than later we will be able to fix it.
Read on. And as always, I welcome your feedback.
David Valle, M.D.
Henry J. Knott Professor and Director
McKusick-Nathans Institute of Genetic Medicine