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Human Genetics Department News

Team to discover 15 new genes that shape our face

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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

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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.   

Talkowski: 2018 Early Career Excellence Award

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MICHAEL TALKOWSKI (HUGEN ’08) is associate professor of neurology (genetics) at Harvard Medical School and the Center for Genomic Medicine at Massachusetts General Hospital and an associate member of the Broad Institute of the Massachusettes Institute of Technology and Harvard where he directs the Broad Structural Variation and Assembly Group. His research has led to paradigm-shifting discoveries that have left a mark on the field of genetics. 

Modzelewski: 2018 Distinguished Alumni Award for Practice

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A two-time breast cancer survivor, RUTH MODZELEWSKI (HUGEN ’96) has served as mission coordinator for Susan G. Komen Pittsburgh since 2009, when she went from researching cancer at the University of Pittsburgh to practicing and promoting cancer prevention and treatment throughout Western Pennsylvania. She oversees the Komen Pittsburgh community-based health grants program which annually gives close to $1 million back to the community. 

Weinberg and team identify new genes responsible for facial features

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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

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“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

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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

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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

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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... 

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