The pace of discoveries of disease-causing genes is quickening as the Human Genome Project nears completion. Headlines frequently announce the detection of genes behind familiar ills, and what follows has become a routine: Several research groups race to map the gene, then clone and describe it, while biotech companies wait in the wings to turn the discovery into clinical tests. But gene searches for many very rare, inherited illnesses never make the news, nor are they all straightforward. Genetic research on Cornelia de Lange syndrome (CdLS), a multisystem disorder involving congenital malformation, growth retardation, and neurodevelopmental delay (L. Jackson et al., American Journal of Medical Genetics, 47:940-7, 1993), is a case in point. So rare is the illness that no organizations specifically fund its research, as is the case for more common inherited conditions. And complicating the picture for CdLS is that some of the existing data conflict....

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