Ornithine Transcarbamylase (OTC) Deficiency
Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle in which protein is not completely broken down, causing an elevation of ammonia which is toxic to the brain.
OTC is no longer a silent killer. Once identified, it is treatable.
Medical Genetic Genealogists combine traditional genealogy with finding hereditary patterns to identify potential carriers.
Geneticists identify carriers through DNA testing and provide a protocol for treatment.
Pharmaceutical Companies develop treatments and therapies to improve the lives of patients.
Saving Lives & Improving Quality of Life for Patients
How Our Journey Began
In 2017, Baine Brady Bobka (age 7) died from what we would later know to be OTC Deficiency. His death connected us to another family and through genealogical research we found a common ancestor producing 1,300+ (and growing!) potential carriers.
Read More About Our Family Story >>
Jane Wright Earl & OTC Deficiency
The Common Link
Through genealogical research, Jane Wright Earl (1822-1913) has been medically recognized as our family's proband or the starting point for the genetic study of our family’s OTC deficiency. From her lineage, we have identified over 1,300 plus possible carriers.
The diagnosis of OTC deficiency and/or being a possible carrier can be daunting, but there is hope. We've compiled resources regarding testing, protocols for treatment and other helpful information.
“Genealogical research has opened the door to treatment for so many more patients. This research and approach will undoubtedly save lives.”
Dr. Nicola Longo, MD PhD