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The UHL Newborn Screening section in Ankeny
welcomed a new fellow this month who will use the knowledge she gained
in the Lab to help make prenatal diagnoses.
Dr. Kristi Borowski spent two weeks at the UHL for a laboratory
rotation as part of a combined Maternal Fetal Medicine/Genetics
Fellowship at the University of Iowa Hospitals and Clinics. Prior to
entering this four-year program in 2004, Kristi completed an obstetrics
and gynecology residency through Mayo Clinic in Minnesota after earning
her medical degree at the University of Wisconsin.
"This is the first time we have had a Genetics Fellow work with the
Newborn Screening Lab, and we will have a Molecular Genetics Fellow
arrive in February." says Marcia Valbracht, UHL newborn screening
supervisor. "It is beneficial for all when the doctors and geneticists
visit the Lab. When they understand our challenges, it helps with the
communication process."
The fellowship program combines work in medical genetics clinics with
rotations through three types of clinical laboratories: cytogenetics,
molecular genetics and biochemical genetics. The UHL is considered a
biochemical genetics lab.
"I am spending time in Tandem Mass Spec (MS/MS) and Newborn Screening
to understand the testing that leads to the diagnosis of inherited
metabolic diseases such as phenylketonuria and MCADD, which I will see
in genetics clinics," Kristi says. Children born with MCADD (Medium
Chain Acyl-CoA Dehydrogenase Deficiency) lack the enzyme to convert fat
to energy.
"I hope to have a better understanding of how MS/MS works and the
system that provides the newborn screening results; for example, how
positive screens are evaluated and reported out."
During the rotation, Kristi worked with the UHL Newborn Screening
team, including Marcia Valbracht, Val VanZee and Mike Ramirez.
"I plan to use my genetics training in prenatal diagnosis," she says.
I realized in residency that this is the area I was interested in. I
also have had the opportunity to participate in genetics research and
plan to continue that in the future as well."
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