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Genetics Study

Research results update: To date, we have collected questionnaires and oral mouthwash samples for genomic DNA from 1,758 individuals. Participants in this study include 759 probands, which have been designated using previously defined criteria, such as excessive sweating that occurs at least once a week and age of onset before 25. Moreover, we have recruited relatives of individuals that have hyperhidrosis and amassing 486 families with at least 2 currently participating members.We are now in the process of analyzing the epidemiological as well as the molecular genetics of this condition in our study cohort. As a preliminary study, we have performed whole-exome sequencing (WES, a new technology to sequence the DNA/genes that code for proteins in humans) on a subset of 23 hyperhidrosis cases from 9 affected families. Bioinformatic analyses of WES are ongoing – with the ultimate aim to identify disruptions in common molecular pathways or genes. Additionally, we are performing targeted sequencing assays to identify mutations in candidate genes for future co-segregation analyses within families.

Future plans: We are working on continuing to analyze the data including characterization of different types of hyperhidrosis and potential genetic variations that might be responsible for this condition. To continue our research, however we need to obtain funding. In the current research environment, many do not see the importance of working on individuals with excessive sweating making it difficult to compete in this time of reduced funding for research. Because of this, we are suspending recruitment. Individuals interesting in helping raise funds for hyperhidrosis research should contact Dr. Robert Burk

Robert.burk@einstein.yu.edu
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