Rare Childhood Disorders

Rare Childhood Disorders

What is a rare childhood disorder? The FDA defines it as one that affects fewer than 200,000 Americans at any given time. Rare childhood disorders are estimated to impact 1 in every 150 births.

Since most rare diseases are genetic, our researchers at TGen work to unlock clues in the genomic patterns of the nearly 15 million children in the U.S. who have been diagnosed with rare, often unclassified disorders. These clues that help us understand a rare disorder comes from identifying changes in the DNA.

But the task of is very complex – because the human genome is very complex.  

The human genome is made up of 23 chromosome pairs with a total of about 3 billion DNA base pairs. It helps to think of these as building blocks, with each block having one of four properties identified as A, C, T and G.

Yet, in spite of the challenge, there is reason for hope.

Translational genomics research employees innovative advances and applies them to the development of diagnostics, prognostics and therapies for cancer, neurological disorders, diabetes and other complex diseases.

It begins with the search to identify the unique genome string inherent to each child with a rare disorder, and then comparing it to the strings of family members and to others around the world – like searching for and finding a tiny lifeboat with a zebra lost in the world’s largest ocean, a quest that is best illustrated by a story. 

Share the Story of a Brave Zebra with your child.