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Gene for rare vision disorder identified. BU School of Medicine researchers have identified the second chromosomal position for the recessive gene that causes achromatopsia. People suffering from this rare genetic disorder cannot see any color at all and are regarded as legally blind. Photophobia (abnormal sensitivity to light), extreme nearsightedness, and uncontrollable movement of the eyes are other features of the disorder.

Dr. Aubrey Milunsky, BUSM professor of human genetics and pediatrics and director of the Human Genetics Center, studied a unique family in which 5 of 12 children were affected with achromatopsia, which enabled the researchers to detect the locus of this rare gene, which maps to chromosome 8q.

The research team also suspected that three of the children, who suffered from mental retardation in addition to achromatopsia, might also somehow be affected by the action of this gene. However, Milunsky explains, "We found no linkage to the 8q locus thus far, and a thorough evaluation, including an X-chromosome study using DNA probes, did not reveal a locus on the X-chromosome or a related or contiguous gene."

Researchers say that the discovery of a second gene for achromatopsia provides new insights into the genetics of vision and color vision and will facilitate development of therapeutic approaches for this rare and debilitating disorder. The report appears in the July issue of the journal Clinical Genetics.

The business of academic research. BU scientists and those who approve government funding have an interest in the success of quantitative research. But in a time of dramatic changes in research and development funding, should university research be forced to be more businesslike?

According to a new study by CAS Professor of Physics Gene Stanley and postgraduate students Vasiliki Pierou, Luis A. Nunes Amaral, Parameswaran Gopikrishnan, and Martin Meyer at the Center for Polymer Studies, it already is. They found that in the same way that the market forces a business to be competitive, the forces of peer review keep competition for funding strong among scientists. "There seems to be no need to make academic research more businesslike," says Stanley. "It's already as competitive as the business world."

Until World War II, the Von Humboldt model -- pure research without consideration of practical application -- governed academic research. Later, fundamental research, which was often geared towards specific technological objectives, became the norm. Today, universities are also expected to strengthen the economy, competing with one another to sell their research to funding agencies.

Stanley and his colleagues contend that the current research model doesn't need fixing. By the measures of R&D expenditures, learned paper output, and patents granted, the analysis confirmed the distribution of growth in research follows much the same pattern as growth in businesses as well as the growth of countries, suggesting a universal mechanism governing the dynamics of economic growth.

The researchers caution, however, that there are a few important differences in the growth dynamics between research and business. For instance, while businesses tend to have short time horizons, planning about five years ahead, fundamental research can often take much longer to produce results -- sometimes years longer than the average research grant.

The paper appeared in the July 29 issue of Nature.

"Research Briefs" is written by Joan Schwartz in the Office of the Provost. To read more about BU research, visit


15 May 2003
Boston University
Office of University Relations