This may intrigue those of us who feel gravity taking it’s toll or it may just seem flat-out strange. Either way, Brooke Greenberg has not grown in 15 years and her medical mystery has scientists thinking whether she may hold the key to the fountain of youth. Dr. Eric Schadt explains.
If you could take a pill at any point in your life to slow or even suspend the aging process, would you do it? What age would you pick? Is such a fabled fountain of youth even possible? Well, Brooke Greenberg, a 20-year-old woman living just outside of Baltimore, Maryland may in fact hold one of the keys for one of the greatest mysteries in all of biology: Why do we age and is there any way to slow or suspend the aging process?
Brooke has one of the most unique conditions observed in the human population. For the past 15 years, by all outward appearances Brooke has not aged. She has not gone through any of the hallmark changes that would be expected to occur in a toddler as they move through their pre-teen years, into their teenage years, puberty and on to young adulthood. Despite having been seen by some of the most prestigious medical institutions in the U.S., no formal diagnosis for Brooke’s condition has been given. She has no apparent abnormalities in her endocrine system, no gross chromosomal abnormalities, or any of the other disruptions known to occur in humans that can cause developmental issues.
As a research scientist directing the Icahn Institute at Mount Sinai School of Medicine in New York, I was brought in to help those seeking to understand the complexity of Brooke’s condition by using state of the art technologies and sophisticated mathematical algorithms to mine the big biological data these technologies generate. These technologies are revolutionizing our understanding of living systems (and in particular our understanding of human diseases). To put it simply, we are employing these technologies to sequence Brooke’s genome, which like most of us is comprised of two long strings of letters (one from mom and one from dad). Each string is three billion letters long and forms words that in turn are used to form sentences that tell all of the cells making up your body what to do. Changes in just one of these letters – if they occur in a certain and important enough word – can lead to profound effects on your development, your looks, your risk of disease and so on.
Cracking the code on Brooke’s condition is the proverbial searching for a needle in a haystack, since likely there is one or a small number of letters changed in Brooke’s genome that has caused her condition. Six billion letters is a lot to search through. Consider that the fifth book in the Harry Potter series is roughly one million words, so it would take 6,000 such books to hold all of the letters in Brooke’s genome!
From the sequencing of Brooke and her family, we have searched for genes that are mutated in ways that are specific to Brooke (compared to her parents, three normal sisters, and others in the human population who have been sequenced) and found a handful of genes that are of interest. We are in the process of assessing what these genes do in Brooke. By creating stem cells from Brooke’s skin (another technological advance that is revolutionizing our understanding of disease), we have been able to make neurons, liver cells, fat cells, and other cell types from Brooke so that we can study the function of the “special” genes we identified in Brooke and how they affect normal biological processes, processes associated with aging, and processes associated with disease.
Our hope through this work is to resolve whether the genes we identified in Brooke are involved in aging related processes, whether manipulating these genes could increase longevity and/or reduce aging related disorders such as Alzheimer’s, heart disease and many forms of cancer. Brooke’s contribution to human well-being ultimately could be a reduction in the overall disease burden throughout all human populations.
Dr. Eric Schadt is the Director of the Icahn Institute for Genomics and Multiscale Biology at The Mount Sinai Medical Center in New York.