Even with the amount of diagnostic knowledge available today, for some newborns with various conditions the underlying cause of their disease remains elusive.

This is why neonatologist Pankaj Agrawal, MBBS, MMSc, and his colleagues have launched a one-of-a-kind program: to tap the latest genomic technologies to discover hitherto unknown genetic mechanisms in newborn children with undiagnosed diseases. With this information, they can more effectively counsel families on their child's diagnosis and treatment options.

What makes this initiative unique, however, is how Agrawal — who is also medical director of the Gene Discovery Core in Boston Children's Manton Center for Orphan Disease Research — and his team go a step further. They model the variations they identify in different systems (e.g., iPS cells, zebrafish, mice) to link mutation to function to symptoms, bringing gene discovery from the bedside to the bench and back.

The team's primary goal is to obtain genomic sequences for every infant admitted to the Boston Children's NICU with a unique clinical phenotype and generate relevant models for functional discovery. To the best of our knowledge, no other pediatric center does this.

Agrawal's team have published a number of papers on their discoveries. One released in the American Journal of Human Genetics (AJHG) presented their findings that mutations in the gene SPEG can cause a rare combination of centronuclear myopathy with dilated cardiomyopathy.

To discuss a patient's care with, or refer a patient to, a Boston Children's neonatologist, contact us at 617-355-8076. To request genomic screening for a newborn in your care with an undiagnosed condition, contact the Manton Center Gene Discovery Core.

Learn more

Download a copy of the AJHG paper.