Recessive Genes in Parents to Diagnose Babies with Health Conditions Prior to Birth

Added by David Sandercock on January 17, 2011

Craig Benson, CEO of Rules-Based Medicine Inc., a biotech company, faced tragedy when his young daughter was diagnosed with deadly Batten disease that has no cure.

Today, his brainchild project of trying to identify more than 500 recessive genetic genes in children before they are born is taking shape.

The test has been designed to identify whether the parents are carrying those genes which may get transmitted to the child. In all, the test covers 448 catastrophic diseases that affect children in their childhood.

Stephen Kingsmore of the National Center For Genome Resource in Santa Fe spoke of the contributions made by Life Technologies Corp and Illumina, which make gene sequences, for donating and contributing to the study.

If parents are found to carry recessive genes, they have the option of testing the embryo before having the child or even contemplating alternatives like adoption instead of than having a child that will be borne sick and will never lead a healthy life.

However, there still are hundreds of diseases that cannot be diagnosed until after the child is born. Invariably, this renders it too late for any remedial action to be taken. The project focuses on expanding the list of diseases to include maximum numbers for maximum benefits.