Study Reveals Genetic Insights


For nearly a decade, genetic researchers at the Albert Einstein College of Medicine have been collecting DNA from hyperhidrosis sufferers for a research study that is exploring the genetic link of excessive sweating. The International Hyperhidrosis Society has worked in close cooperation with the research team, educating our community about the ongoing research and recruiting hyperhidrosis sufferers to participate in the hyperhidrosis study.

We asked Robert Burk, MD, Professor and Vice Chair for Translational Research at the Albert Einstein College of Medicine, for an update on some of the study’s details and findings.  He started by giving us some of the numbers: “To date, we have had 1,750 participants from over 300 families; many with multiple generations affected with hyperhidrosis---grandparents, parents, and grandchildren. The age of onset for most participants was before the age of 10; however, nearly a third said their sweating began during adolescence or later. We have had participants from all 50 states—Pennsylvania, New York and California having the highest representation—and the District of Columbia. Participants come from all ethnicities and races.”

Dr. Burk says that unraveling the complex genetic connection of hyperhidrosis is an ongoing process.  He explains how the research team began the study. “We needed to first establish a genetic basis of sweating.  We did this by conducting a pilot study that harnessed the power of the new genetic sequencing technologies.  We selected nearly two dozen individuals from whom we had DNA from a mouthwash specimen. These individuals were from a few families with either excessive sweating from the handssweaty feet, or profuse sweating on the face, or underarm sweating.  We used a technique called exome sequencing—which is a less expensive and more efficient way to selectively sequence the coding regions of the genome (as opposed to sequencing the whole genome)—to hunt for genes that might be involved or altered in these individuals.  Each of the selected participants had millions of DNA reads and we are now working to scan through the genomes looking for variations that are associated with specific patterns of sweating and run in families.”

The research has also turned up some interesting patterns based on findings from the first 1,000 participants: Approximately two thirds report sweating from the hands, feet, and underarms; while nearly half sweat from their face, back, chest, and groin.  (An interesting detail: men report sweating more from the facial area than women.)  Burk notes that at least two constellational patterns of sweating have emerged: “Participants who sweat from the hands and feet are also more likely to sweat from the underarms; whereas those who sweat excessively from the face, chest, back, and groin seem to cluster. There is also a set of individuals who have sweating in response to a cold environment!”

Because of the current difficulty in getting funding for biomedical research in the present economic climate, Burk says that the team’s progress has been slower than they would like.  “Nevertheless,” he says, “the goals continue to be to understand the characteristics—or phenotypes—of excessive sweating and to what degree do these characteristics run in families; we will also continue to study the constellations of the disorder. We plan to use select phenotypes and families to search for the genes that are affected, giving us insights into the underlying basis of the disease. From gene identification, we envision the development of therapies specific to the underlying biochemical basis for excessive sweating.”

The fact that this genetic research is happening at all is incredibly special and its implications for the future of hyperhidrosis care are extremely promising.  More and more, support for the International Hyperhidrosis Society community is coming from people who are developing new treatments or conducting studies to better understand hyperhidrosis and its impact. We are indeed fortunate to have such a dedicated group of researchers and other medical professionals helping us to master the devastating effects of excessive sweating

One of the most telling statistics to come out of the research that Dr. Burk shared with us is that only 60% of participants overall have sought medical help for their excessive sweating. That’s an astounding statistic that would seem unacceptable for other medical conditions, and particularly because there are currently excellent treatment options for hyperhidrosis available.  It is likely due to the shame-inducing nature of hyperhidrosis, which causes people (sometimes generations of them) to go to great lengths to hide their symptoms and/or to simply isolate themselves from the world in deference to its unmanageable symptoms.

We truly need the support of everyone in the International Hyperhidrosis Society community in order to connect with, educate, and treat all who are affected by the burden of hyperhidrosis….So stay involved! Read our newsletter alerts and make sure your subscription is up-to-date; participate in our activities and events that we invite you to; spread the word about our work across your social media universe…It is because of the unique energy of our hyperhidrosis community that we can make a real difference in a sufferer's life today and in generations to come…

Print   Email