Great news to all those who had been working hard to find the cure for neuroblastoma, as scientist have uncovered the first link between the lethal disease and a kind of genetic disorder called as CNV or copy number variation. This genetic defect is qualified by some extra bits or missing DNA. This discovery came into picture when a group of scientists in Paris were involved in a study on neuroblastoma, the most dangerous paediatric disorder that affects the nervous system and that is responsible for 15% of cancer deaths in children. Researchers under the leadership of John Maris of the Children’s Hospital, Philadelphia have discovered that the genetic defect, Copy Number Variation or CNV on chromosome 1 is a serious contender in development of this disease that mainly affects infants.

The study also stated that this absence stretch of DNA normally occurs within a group of genes involved in the growth of our central nervous system. This absence stretch thus affects amount of genes (with missing DNA) that are produced within the normal cells and the cancerous cells. Speaking in a phone interview, Maris states that, this result was indeed a new area of study and they never suspected that this family of genes with missing DNA would play a vital role in neuroblatoma. It is also worth mentioning here that, in a research published last year, Maris and others isolated a gene called ALK which can by itself cause a rare hereditary disease. Even last month, the scientists have uncovered another gene known as BARD1 that raises the child’s susceptibility to some extent.

This new study that is published in Nature, a British journal, has proved significant not only because it adds another feather to the neuroblastoma’s puzzle hat but also it has opened a new path that shows even genetic material can become risky cancer agents. Though it has been widely suspected that Copy Number Variations could lead to tumors but the path to prove this has been really tough.

With the help of powerful computers, Maris compares the DNAs of health persons and those suffering from cancer to conduct a genome-wide association study. With this technique, hundreds of links between cancer and DNA were uncovers but none showed the relationship between the deadly disease and CNV. But this study reveals a strong hypothesis showing the effect of these CNVs on paediatric cancer said Maris speaking to a telephonic interview. He also added that these results will also prove vital to find the association of these CNVs with other types of cancers as well. This study makes it clear that there is no strict definition of what is hereditary when it comes to any disease including cancer.

The study also states that only few conditions like the Mendelian diseases are caused by the mutations in a single gene. Most other disorders are caused by a complex of chain of genes and also environmental conditions that are mostly difficult to trace out. Explaining this fact, Maris stated only 1 or 2 % of neuroblastoma runs in the families while the rest occur only by chance. This genome-wide association study is now proving that it is not the chance but the genetic susceptibility with the right inheriting risk factors from both mom and dad that is causing the disease.