Stories about: Claritas Genomics

Focused genetic testing approach ends a 32-year diagnostic journey

Claritas-JackieSmith3-croppedSome 7,500 rare disorders are known to be caused by single-gene mutations. Most of these disorders first appear at birth or in childhood, and for about half, the responsible gene has been identified. Yet, on average, families with rare disorders spend 12 years searching before getting a correct diagnosis.

Jackie Smith, a 35-year-old mother of two, searched for 32 years for the cause of her muscular weakness. Her parents knew something was wrong soon after she was born. At first, because her ankles turned in, they thought she was bow-legged.

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The Precision Medicine Initiative: A child-centered perspective

child aiming bow & arrow Shutterstock croppedPatrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.

A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.

The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.

Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA.

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