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Abstract: Anne’s first years at Mass General were very exciting scientifically. Faculty members Rudy Tanzi, Jim Gusella and their collaborators found the gene for one form of Alzheimer’s disease and Robert Brown found another gene for one form of amyotrophic lateral sclerosis (ALS). Finally, ten years after finding the marker, the project paid off. At the end of February 1993, Marcy MacDonald and Jim Gusella told Nancy and Anne that they had found the actual mutation in the gene for Huntington’s disease. Now they knew that the HD gene mutation was composed of an abnormal number of repeated sequences in the DNA, which was keeping with what other research scientists had already found to be the cause of several other neurologic diseases. The identification of the gene mutation allowed for many new experiments to be done. The identification of the gene mutation also made possible a simple blood test that allowed people to determine whether they had inherited HD. At first, there was some enthusiasm for getting tested. However, it soon became clear by the relative few who signed up for the test that many people would rather live with ambiguity than know they would definitely develop a deadly, incurable disease sometime in the future.
Abstract: As they continued to work together, Anne and Nancy Wexler became closer friends. Anne, Jack, Jessie, Ellen and Nancy traveled to Peru to conduct more research along with other Venezuela-trip veterans such as Graciela Penschensadeh (an Argentinian), Maria Ramos (a Spanish geneticist), Ira Shoulson and Fidela Gomez (an Argentinian nurse). They arrived in Lima in the middle of the night and Dr. Cuba (the Lima neurologist who knew the HD families) met us at the airport and took us to the Hilton Hotel. The next day, they rented two Toyota pickup trucks. They traveled south to the Cañété Valley where they found a hotel. They spent two weeks going up and down the valley, from town to town and house to house finding, questioning and examining families affected by Huntington’s disease. To keep Jessie and Ellen busy, Anne gave them the job of photographing people in the HD families and writing their names on the back. They had just received Polaroid cameras for Christmas that they used. By the end of their trip, Anne and the rest of the team discovered that their hotel was a money-laundering operation complete with four-star rooms, restaurant, pool and laundry.
Abstract: Medicine improved since the beginning of Anne’s career. Therapies improved for neurological illnesses such as Parkinson’s disease, epilepsy, multiple sclerosis, myasthenia gravis and others. Improvements can be made in the time doctors have to spend on paperwork and extensive documentation required by insurance companies that leave less time for actual patient interactions. There are still challenges for women, such as their promotion to the highest academic and leadership levels. Anne describes the advances since her early studies in Sol’s lab. By 2015, it was becoming impossible for Anne to deny Nancy’s signs of HD. Anne wanted so much to help her. Nancy’s sister, Alice, became a close friend and they both hoped Nancy would join a clinical trial. Several promising therapies were being tested and Nancy agreed to join one. Before she was able to actually join the trial, however, it was suddenly stopped as it was making people worse. Over weekly Zoom calls with Anne and Alice, Nancy was excited that her Hereditary Disease Foundation (HDF) was going to fund three large and extremely innovative research grants that promise the application of novel approaches to find HD therapies.
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