In the latest edition of Nature Genetics online, a discovery revealed a new gene responsible for a rare disease; congenital sideroblastic anemia, which is characterised by ring sideroblasts in the bone marrow.
This study was conducted by Genome Canada and co-directed by Dr. Mark Samuels, as part of the Atlantic Medical Genetics and Genomics Initiative (AMGGI).
The team carried out the study on three families in the Canadian Maritime provinces, each having children affected by this disease. It seemed likely that the three families were linked through common ancestor.
With the new technologies developed after the Human Genome Project, researchers have been able to delimit the genomic region that likely contains the gene responsible for causing the disease.
After the gene was discovered and analysed, the identification will allow patients and other family members to obtain a direct molecular confirmation of their condition, meaning that they can find out whether they are asymptomatic carriers or sufferers of the disease.