SUBMITTED BY ELLEN BURNS, VICE PRESIDENT & MEDICAL LIAISON
The Deater family has suffered for generations with a disabling neurological disease. And yet, courage, humor, faith and determination are the traits that come to mind when thinking about the family. These traits have been the basis for strong relationships that have formed with medical and research people studying the disease.
This past year, Dr. Khemissa Bejaoui, who worked on the HSN1 project at the Day Lab for about 10 years, accepted a new position at the Marshfield Clinic in Marshfield, Wisconsin. One of the first things she did after her arrival was to attend a conference related to HSN 1. The family developed great affection for her on her frequent trips to the reunion. We wish her well and look forward to hearing about her continued research.
Two weeks after last year’s reunion, two researchers who had collaborated with Khemissa arrived in Noxen to conduct a research study. Beulah and Elwood Womer opened their home as the “research center” for San Francisco Doctor of Pharmacy, Dr. Walter Holleran and Dermatologist Dr. Joachim Fluhr from the former Democratic Republic of Germany (East Germany). June Sorber hosted the doctors overnight as they gathered information that they presented the same week at an international conference in New England. They speculate that, because the gene defect in HSN 1 is associated with sphingolipids, and sphingolipids are essential for adequate skin barrier function, it is possible that trauma to the skin may play a part in the destruction of nerves. A copy of their presentation will be available at the reunion.
Both researchers expressed appreciation for the cooperation and warm welcome they received from the family. Dr. Fluhr wrote, “I would like to thank you and all members of your phantastic family. It was a wonderful experience for me to visit you at this place, to hear about your lifes, about the fears, the dreams, and sharing some exciting moments together. It was not only about science or being a Dermatologist. It was truly a deep experience learning about other families in a part of the world that is different from our lifestyle.”
Dr. Holleran invited me, on October 14, 2003, to visit at his office at the VA Hospital in San Francisco. He provided a supply of TriCeram cream, for use by affected family members. I sent it to those involved in the study and hope to get a report on any improvement anyone may have noted after using the cream. Dr. Holleran wrote recently that his son will attend Bucknell University in Lewisburg PA starting this fall, and he hopes to visit the family again. Dr. Holleran will be attending two conferences in Japan in July to share his findings with other researchers.
Dr. Robert Brown has been involved with the family for over 20 years. As Director of the Day Laboratory for Neuromuscular Research, he has directed ongoing research on HSN1.
He was recently awarded a grant from the National Institutes of Health for a collaborative research project on HSN1 with Dr. Theresa Dunn and colleagues at the Uniformed Services Medical School in Bethesda, Maryland. This is an especially exciting collaboration for us. In June, 2001, Dr. Todd Martensen, who worked with Dr. Dunn, contacted the Deater Foundation web site, which was developed and is maintained by Dixie Dorward. I responded to his inquiry and put him in touch with Dr. Brown and now both groups are working together on exciting new research!
Dr. Brown reports “The work has been productive over the last several months.” He has visited Dr. Dunn twice for scientific exchanges and reports “she is an excellent scientist who is knowledgeable, effective in communication and a pleasure to work with.” At the Day Lab, the grant is fully funding the work of Alex McCampbell’s postdoctoral studies. Alex is skilled at developing transgenic mice and Dr. Brown reports “we are well on our way to develop a mouse model.”
The development of a mouse with the same genetic defect as people with HSN1 would allow for in depth study of the disease. The defective gene must be inserted into the test mice. Then the mice must be shown to pass the defective gene on to offspring. Once the genetic defect has been confirmed, the mice will be carefully studied for any symptoms of the disease. Dr. Clifford Wolf, who has offices in Charlestown near the Day Lab, is a pain specialist who is expert in pain testing in mice. He will be a resource for the studies. Other tests will include testing the skin of the animals for small fibers of nerves. When (and if) a true HSN1 model mouse is developed, the mice would be made available to other researchers for continued studies.
The research team has a parallel goal of developing a miniaturized system to study the gene defect in the laboratory in Petri dishes. Drugs can be placed in conjunction with the “test tube” disease. This research would eventually allow for the screening of many drugs simultaneously. The long-term goal will be to discover a treatment for the disease!
Dr. Brown’s older daughter, Hannah will start medical school at Harvard this fall. His younger daughter, Rachel, is at Brown University. It was fun to find out that Dr. Brown’s wife, Elaine, used to vacation with her family in Maine, when she was a child. They often ate at “Spillers” restaurant- that is the same building where Larry Deater’s restaurant “The Privateer” is today!
God works in wondrous, mysterious ways! He has taken the prayers and financial contributions we have offered and has expanded them in ways we could not have dreamed! The gifts of money made to the Deater Foundation are like grains of mustard seed. When watered with faith, they grow by stimulating other contributions, and the studies they support encourage scientists in research that spans the globe!