SALT LAKE CITY--“There is no cure for HHT, yet if we can find new genetic modifiers or new genes, then we
can potentially find novel therapeutics to treat these patients,” explains an enthusiastic Whitney
Wooderchak-Donahue, PhD, a researcher with the University of Utah and ARUP Laboratories.
Last week, she received the 2015 Young Scholar Research Grant ($30,000) for her research proposal that
involves focusing on patients’ transcripts (the RNA in the cell) via their blood samples to identify genetic
modifiers in Hereditary Hemorrhagic Telangiectasia (HHT). A genetic disorder of the blood vessels, HHT
affects approximately 1 in 5,000 people.
Wooderchak-Donahue was one of six recipients worldwide to receive the grant award from Cure HHT, an
international organization that supports HHT patients and their families.
“Congratulations” was the first word she read in the email from Cure HHT, before she immediately began
jumping up and down and high-fiving her colleagues.
“This would have never have happened without the guidance I’ve had from my mentor, Pinar,” says
Wooderchak-Donahue. “She stands behind me all the way and is always promoting me and encouraging
me to attend vascular malformations meetings around the world.”
She and Pinar Bayrak-Toydemir, MD, PhD, a University of Utah Associate Professor of Pathology and a
molecular genetics and genomics medical director at ARUP Laboratories, discovered a new HHT gene in
2013 (published in the American Journal of Human Genetics). Bringing the number of identified HHT genes
to four.
“Whitney is an outstanding researcher, a critical thinker, and very creative in finding solutions to research
problems,” observes Bayrak-Toydemir. “She is now a recognized researcher in the field of vascular
malformations and specifically in Hereditary Hemorrhagic Telangiectasia.”
“Patients only need one mutation in one of the genes to be diagnosed with HHT,” explains WooderchakDonahue.
Soon after discovering the gene, she and Bayrak-Toydemir, created a Next Generation
Sequencing (NGS) Panel to look for all four genes and mutations at once for each patient. (NGS
technology allows researchers to interrogate multiple genes at once often providing a quicker diagnoses
than a gene-by-gene approach.)
Why look for new genes in HHT? “Because we don’t know why 15 percent of the people with HHT show no
mutations,” explains Wooderchak-Donahue. “To figure this out, we are focusing on finding new genes and
genetic modifiers that may cause HHT,” explains Wooderchak-Donahue. “We are also looking for novel
mutations in regulatory and noncoding regions in the known HHT genes that may have been previously
missed in these patients using traditional HHT molecular testing.”
What is HHT?
This blood vessel disorder gradually presents itself with frequent and sometimes severe nose bleeds and
dot-like red lesions on the skin.
The most deadly aspect of the disorder is the arteriovenous malformations (AVM), which can form in the
brain, lungs, liver. AVMs are direct artery-to-vein connections that can cause shunting, hemorrhage, and
death.
Many people are not aware they have HHT until someone else in their family is diagnosed with it or
suddenly passes away because of it.
It is a dominant disorder, which means if it runs in your family you have a 50 percent chance of having the
disorder. “We’ve monitored a large family in Utah, where half of the 200 members have HHT,” says
Wooderchak-Donahue. It is about as common as cystic fibrosis.
“HHT has life-threatening complications, so if we know the genetics for the patient and their families then
we can monitor and treat them—early identification is key to saving their lives,” says Wooderchak-Donahue,
who credits her Auburn High School chemistry teacher, Melinda Thompson, and her Western Illinois
University biochemistry professor, Lisa Wen, PhD, for turning her on to research.
"We are amazed at the passion and interest young researchers show for the Cure HHT cause," said
Executive Director Marianne Clancy. "This is the first year we have been able to fund six projects, and we
expect great things to come from all of them. It's this level of dedication that will lead to a cure."
About ARUP Laboratories
Founded in 1984, ARUP Laboratories is a leading national reference laboratory and a nonprofit enterprise of
the University of Utah and its Department of Pathology. ARUP offers more than 3,000 tests and test
combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP serves
clients across the United States, including many of the nation’s top university teaching hospitals and
children’s hospitals, as well as multihospital groups, major commercial laboratories, group purchasing
organizations, military and other government facilities, and major clinics. In addition, ARUP is a worldwide
leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for
Clinical and Experimental Pathology®.
Contact: Peta Owens-Liston, Public Relations Specialist II, (801) 583-2787, ext. 3635, peta.owensliston@aruplab.com