"I thought he would have wild, crazy hair and big bushy eyebrows. Orange and out to here," Rebekah Lieberman said as she stretched her arms out on either side of her head. Rebekah, a ten-year-old child with Familial Dysautonomia, (FD) had an opportunity to meet Dr. Berish Rubin, the man dedicated to finding a cure for her disease. She visited Dr. Rubin at his Fordham University biology laboratory in August. And, after all, what would a scientist named "Berish" look like in the imagination of a ten-year-old child? Rubin presents a very different picture to those who meet him. Not a "mad" scientist at all, but rather a good-natured, quiet man who conveys a genuine sense of love for his work, and a driving passion to help those affected by a debilitating disease.

Rubin's goal is to help children and adults who suffer from FD. Along with his colleagues at Fordham University, Rubin co-authored an article announcing the discovery of the gene for Familial Dysautonomia. This discovery allows potential carriers of the FD gene to be tested. This will help reduce the number of children born with the devastating complications of FD. Rubin's contribution to medical science was enormous, and would have been enough for some. But Dr. Rubin has yet to rest. The Fordham laboratory is busy around the clock, as Rubin and fellow researchers continue their quest to find a treatment and cure for FD. He says they will not stop until they achieve their goal. Indeed, the interview for this article was conducted between ten and eleven p.m., as the doctor was just leaving work for the night.

Rubin did not begin his career with the study of FD, but he has always been interested in science. His eighth grade yearbook is a testament to the single-minded interest of a curious young man, as he cites his future profession as "scientist." He grew up in the Washington Heights section of Manhattan in an ultra orthodox, Chasidic home. His mother is a Holocaust survivor from Hungary, and his father escaped from Germany in 1939 with his life and little else. So, Rubin shares a page of history with the patients and families affected by FD, all of whom are able to trace their ancestry back to the 1700's as Jews in Eastern Europe. With a doctorate in research biology from the City University of New York, Rubin spent six years as a researcher at Sloan Kettering Cancer Center. He continued to study interferons at the New York Blood Center for about six years, as a director of that center. In 1989, Fordham University recruited Rubin to continue his work on interferons under their auspices. Rubin mentions his colleague, Sylvia Anderson, with whom he has worked for close to two decades, emphasizing his conviction that none of their work would have been accomplished without Andersen's talent and dedication. He credits her for their continued professional growth, and states Anderson was the driving force in the lab's development of expertise in molecular biology, which he believes prepared them for the mission of finding the FD gene.

With a successful career in the field of cancer research and interferons, what motivated Rubin to suddenly shift gears to study the FD gene? "Two important forces came together and made me decide to put our research aside, at least temporarily, and try to find the gene." First, Rubin's closest friend, whose nephew had FD, came to him seeking a test for the gene. Two of this child's older brothers each also had children with FD. Rubin witnessed first hand the devastation of the disease. In seeking to help his friend, Berish realized that there was no test for FD because the gene had not been identified. Rubin was approached by a prominent figure in the orthodox community who asked him to apply his expertise to the search for the gene, citing the anguish of families in the Jewish community who continued to lose children to FD each year.

Rubin considered the request and declined at first since another prominent research facility was already working on this project. A year later, however, the team had still not discovered the gene, so when approached again, Rubin said "yes." "At first everyone thought I was nuts!" Rubin said. "But, I asked them to give it two or three months and see how far we could progress." Within two weeks, Rubin says it was clear this was a project his dedicated team could handle.

"Once it started to give up its mystery, it took on a life of its own," he said. Well prepared by years of training and work in innovative areas of microbiology, the team was ready to use a newer, novel approach to finding the FD gene. The Fordham lab, under Rubin and Anderson's direction, examined the RNA of FD and non-FD individuals that hadn't been done before by FD researchers. This is much less time consuming, but Rubin acknowledges the "incredible" determination of his colleagues whose work at all hours moved this project along more quickly than seemed possible. With the discovery of the gene, patients and families have begun to feel cautious optimism. It allows testing to determine if someone is a carrier. Prenatal testing is also available. What has been the motivating factor in Rubin's decision to continue his research toward improving the lives of patients living now with FD? The patients themselves.

To date, close to two dozen children and adults with FD have visited the Fordham lab and met with the staff. The relationship to the kids, Rubin says, is not abstract. Photographs of children and adults with FD fill a bulletin board in the office. "They are magnificent human beings. They're all wonderful children. Despite any hardships, or maybe because of them, these children love life, and are friendly, outgoing, and warm." Rubin said. Many of the research team members are affected personally by the knowledge that a child has had a set-back, or has made progress. "They are our inspiration," Rubin said. As for the families, the researcher describes a deep respect for parents who, despite their different choices concerning their children's care, have in common the focused drive to do what is best for their kids.

Rubin himself has given up a lot for FD research, but is happy to do it. "I have no personal life right now," he said. In the future, he would like to get back to the things he loves. He misses time with his wife, Malka, and their three sons. He longs to get back to projects at their Rockland County home, working with his hands in the yard and gardens. "My house is falling apart, everything is in disrepair. I look forward to getting my life back, but not until our work is done," Rubin said. "I would love to be able to put this thing away, but I won't do it until I am certain that children with FD are no longer suffering." With Rubin, Anderson, and their team working to help children with FD, there truly is hope for the future.