Magnify Spring 2017

One Got It, One Didn’t
A Newborn Test Determines Different Trajectories in the Lives of Two Siblings.

GAMT deficiency is one of three known disorders affecting the metabolism of creatine These disorders primarily affect the brain and muscles and usually result in severe intellectual disability and limit speech development to a few words.

A Real Page Turner
Extracting Vital Clues from the Stories within Our Genese

What if our bodies were libraries? And the thousands of books, instead of sitting on the shelves, were circulating through our bodies? Each book a gene; each gene, a story. Written into these stories are vital, personal clues for identifying and treating disease.

New Genetic Test Identifies Rarer Forms of Pulmonary Hypertension,

Improving Treatment and Deterring Need for Biopsy

Now a simple blood sample can provide diagnostic information and allow for earlier intervention and, ultimately, more targeted, life-saving treatment.

Advancements in Immunogenicity Testing Deliver Relief to Patients with Autoimmune Diseases

In order to keep dancing, she kept pushing through the joint pain. Then one morning, she couldn’t even walk; her body was not allowing her to put any pressure on her feet. Looking back, Lisa Foley recalls this moment vividly because it was the beginning of her life with rheumatoid arthritis. She was 22.

Rare NEJM Case Study Raises Questions about Zika Transmission

From a clinical perspective, an important finding was that the virus can be transmitted person-to-person by routes other than mosquito bites. This was the first recognized case, and a very rare one, of a secondary Zika virus infection acquired by contact with a sick person

Thiopurine Drug Toxicity Testing Questions of Clinical Utility

TARUP Medical Directors Yuan Ji, PhD, DABCP, FACMG, and Kamisha Johnson-Davis, PhD, DABCC, specialize in pharmacogenetics and toxicology (respectfully) and address questions of clinical utility regarding thiopurine drug testing and TPMT pharmacogenetics testing.