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Genealogy + Medicine

The Fight against OTC has led to a New Approach for Rare Diseases

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.

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Genealogy

Medical Genetic Genealogists combine traditional genealogy with finding hereditary patterns to identify those at risk of OTC deficiency.

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Genetics

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Geneticists identify those at risk of OTC deficiency through DNA testing and provide a protocol for treatment.

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Treatments

Pharmaceutical Companies develop treatments and therapies to improve the lives of patients.

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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 1,200+ (and growing!) that are at risk of OTC deficiency.
Read More About Our Family Story >>

Numerous

Unexplained
Deaths

1

Family

Tree

1

Common
Ancestor

1,200 +

At risk of

OTC Deficiency

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Jane Wright Earl & OTC Deficiency

The Common Link

Through genealogical research, Jane Wright Earl (1822-1913) has been medically recognized as the proband or the starting point for the genetic study of our family’s OTC deficiency. From her lineage, we have identified over 1,200 plus individuals that are at risk of OTC deficiency. 

The diagnosis of OTC deficiency and/or being at risk can be daunting, but there is hope. We've compiled resources regarding testing, protocols for treatment and other helpful information.

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“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

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