"We thought fifteen genes were good candidates," says Dr. Nili Avidan, who works with Beckmann and Lancet. "We began checking them one after the other, from short, defined genes to long, putative ones. This gene was one before the last."
The researchers observed that mutations in this specific gene correlate with the disease. These mutations modify a previously unknown protein, which they named Codanin-1. The protein, they suspect, is present in the nuclear envelope of bone marrow cells, which divide and give rise to red blood cells. Studies of this protein, which may become an important pharmaceutical target similar to erythropoietin (EPO) may yield a better understanding of blood cell maturation and anemia and eventually lead to an effective remedy for CDA-1.
Prof Lancet's research is supported by Wolfson Family Charitable Trust, Crown Human Genome Center, Henri and Francoise Glasberg Foundation, Alfried Krupp von Bohlen und Halbach Foundation, Kalman & Ida Wolens Foundation, the Avraham and Yehudit (Judy) Goldwasser Fund, Ms. Emilia Mosseri, London, Mr. James Klutznick, Chicago, IL and the Jean-Jacques Brunschwig Memorial Fund.
Prof. Lancet is the incumbent of the Ralph and Lois Silver Professorial Chair in Human Genomics.
Contact: Jeffrey J. Sussman
American Committee for the Weizmann Institute of Science