New research recently published in an article in Nature Genetics sheds light on Schinzel-Giedion and its cause. Geneticists from the Radboud University Nijmegen Medical Centre (RUNMC) in the Netherlands have pinpointed the disease’s cause: a spontaneous mutation in a parent’s germ cell line in a gene called SETBP1.  In other words, a child’s parents can pass along the mutation but do not carry it in non-reproductive cells.  Using the Life Technologies’ Applied Biosystems SOLiD system, this is the first study to decipher the cause of a dominant human disease by sequencing the protein-coding sections of the human genome (exome).

Children with Schinzel-Giedion usually don’t survive past the age of ten. They suffer from mental retardation, have a characteristic form of the skull and often present with heart and bone malformation. This disease is a very rare disorder, as to date only 50 patients have been diagnosed worldwide.

Although this syndrome is rare, it demonstrates the power of what next generation sequencing can bring to the future of medicine. What was impossible for years is now possible within a few weeks. Solutions can now be offered to families, such as prenatal testing, and perhaps lead to better treatments one day. In addition, researchers gain insight into biological processes, which can be important in understanding more prevalent diseases, such as genetic forms of heart disease, cancer, diabetes or neurodegenerative diseases.

Researchers will discuss their exciting findings at the upcoming HUGO Human Genome Meeting conference in Montpellier, France. To learn more about how researchers are using genetic sequencing to combat rare disease and advance the promise of personalized medicine, visit