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Human Genetics Department News

Team to discover 15 new genes that shape our face

ASPPH FRIDAY LETTER - DNA determines what we look like, including our facial features. But first, researchers need to figure out which genes in our DNA are responsible for specific characteristics of our face. HUGEN’s SETH WEINBERG says, “In the past, scientists selected specific features, including the distance between the eyes or the width of the mouth. They would then look for a connection between this feature and many genes.” HUGEN's JOHN SH... 

Stephan named Life Sciences PA's Thought Leader of the Year

Honoring an individual who has a clearly articulated and enacted vision for advancing the scientific and business prowess of Pennsylvania, HUGEN's DIETRICH STEPHAN was honored with the 2017 award.   

Weinberg and team identify new genes responsible for facial features

GEN NEWS – Scientists say they have identified fifteen genes that determine our facial features. HUGEN’s SETH WEINBERG describes the process before he and his team took on a new approach. “We're basically looking for needles in a haystack… This [approach] has already led to the identification of a number of genes but, of course, the results are limited because only a small set of features are selected and tested."  

Padiath promoted to associate professor

The Department of HUGEN is pleased to announce the promotion of QUASAR PADIATH to associate professor with tenure. His primary research interest is molecular mechanisms of neurological disorders, especially myelin formation and maintenance, using data on humans and mouse and fruit fly models.  

Lee discovers breast cancer mutation

“We think we now have tools to measure changes to tumors that have become resistant to therapy,” says HUGEN’s ADRIAN LEE, who identified a new genetic change in the estrogen receptor that hinders treatment of breast cancer in some patients, uncovering new clues for potential improved treatments for breast cancer patients.  

Dudley finds mutations in individuals with pancreatic cancer and history of other cancers

MEDICAL X-PRESS - "At least 18 percent of individuals with pancreatic cancer and a personal history of other HBOC- or LS-related cancers carry mutations in a pancreatic cancer susceptibility gene based on our data, suggesting that criteria for genetic testing in individuals with pancreatic cancer should include consideration of previous cancer history," concludes HUGEN's BETH DUDLEY and colleagues.  

Lee looks to genes to develop more targeted breast cancer therapies

HEALTH NEWS DIGEST - The current movement in breast cancer research is matching DNA with targeted therapies and HUGEN's ADRIAN LEE is at the forefront. "We know now that no two cancers are alike...the concept is, with our ability to more comprehensively understand the genetic basis of the disease, we can more precisely understand the disease, and then treat the disease and/or predict risk."   

Vockley on UX007 development program in long-chain fatty acid oxidation disorder patients

STREET INSIDER - Human genetic’s JERRY VOCKLEY, principal investigator on the program, noted, “I am very excited about our Phase 2 and other clinical results showing the near elimination of hypoglycemia and reduction in cardiomyopathy, addressing two of the major life-threatening symptoms in these disorders. A reduction in the frequency of rhabdomyolysis episodes will also greatly improve the lives of our patients. I look forward to continue work... 

Do your ears hang low? (Hugen VIDEO)

UPMC/PITT HEALTH SCIENCES NEWSROOM - Public health and dental medicine geneticists from the University of Pittsburgh found that at least 49 genes underlie earlobe attachment. What does this research mean and why is it important? 

Stephan leads Oakland startup to battle the invasion of superbugs

POST-GAZETTE - “We think we have the cure for the looming superbug epidemic,” DIETRICH STEPHAN recalled the 41-year-old entrepreneur saying. “I said, ‘Oh, really. Send us all your stuff.’” The introduction paid off. Steckbeck’s company, Oakland-based Peptilogics Inc., recently closed on a $5.5 million Series A financing round led by Facebook Inc.’s first major investor Peter Thiel. Stephan, a serial entrepreneur and chair of Pitt Public Health’s ... 

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