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Human Genetics Faculty & Research News

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 ... 

Moore on the infection connection for some skin cancers

CURE - “New technology is allowing us to find cancers that may have a (previously unknown) infectious origin,” says PATRICK MOORE, professor of infectious diseases, microbiology, molecular genetics, and biochemistry. He is credited with co-discovering viral links to two types of skin cancer: Kaposi sarcoma and Merkel cell carcinoma. 

Pitt Public Health launches life sciences business accelerator

POST-GAZETTE - Serial entrepreneur and human genetics chair DIETRICH STEPHAN will serve as CEO of Pitt's new business accelerator, backing a push to leverage Western PA’s strengths in the life sciences with private investors. The 10-year goal is to tackle prevalent and intractable global diseases. The initial focus will be on cancer, Alzheimer’s, multidrug-resistant bacterial infections, obesity, diabetes, and rare genetic diseases.  

Shaffer: Everything your biology teacher told you about earlobes is wrong

POPULAR SCIENCE - Geneticists often don’t like to perform population studies at such scale because they are too large to zoom in on any specific details. But that means that we might not be getting the full picture. Research by JOHN SHAFFER, ELEANOR FEINGOLD, and SETH WEINBERG tells us that there’s power in numbers. Just as seemingly simple traits reveal their true complexity, diseases that currently puzzle us will soon become easier to understan... 

Parker on whether genome sequencing should be part of a normal health screening?

MIMS TODAY - “Treatability may not be the only consideration people have regarding such information,” says LISA PARKER, a HUGEN researcher who directs Pitt’s Centre for Bioethics and Health Law. 

Human genetics reception in Orlando

Alumni, faculty, students, and friends of the Department of Human Genetics got together in Orlando, Florida, during the November 2017 annual meeting of the American Society of Human Genetics (ASHG). It was a great reception, offering opportunities to catch up on careers, research, and school news. View more photos at . 

Researchers awarded $1.7 million to study the genetics of human facial features

JOHN SHAFFER, assistant professor in the Department of Human Genetics at Pitt Public Health, and Seth Weinberg, an associate professor in the Department of Oral Biology at the School of Dental Medicine, received a grant award of $1.7 million from the National Institute of Dental and Craniofacial Research (NIDCR) for their project, “The Genetic Architecture of Human Facial Morphology.” 

Gollin reappointed to Pennsylvania Cancer Control, Prevention, and Research Advisoory Board

Researcher SUZANNE GOLLIN, Department of Human Genetics, has been reappointed as a member of the Pennsylvania Cancer Control, Prevention, and Research Advisory Board. This was confirmed by the Senate on September 20, 2017. She is pictured here with an image of tumor cell biomarkers. 

Newman contributes to study on how genes affect body mass

NATURE COMMUNICATIONS - ANNE NEWMAN, EPI chair, is co-author of a recent article on the largest, most comprehensive genetic study of lean mass to date. By understanding the genetic contributions to lean mass—an indicator of muscle mass—future treatments may be developed to prevent the loss of lean mass with aging. With age, some people develop a condition called “sarcopenia” where they lose critical amounts of muscle mass, to the point that they ... 

Tseng and Ma use Bayesian hierarchical models to detect and categorize biomarkers in RNA sequencing

RNA-SEQ BLOG - Important work by biostatistics and human genetics professor GEORGE TSENG and biostatistics PhD student TIANZHOU MA proposes a full Bayesian hierarchical model for RNA-seq meta-analysis by modelling count data, integrating information across genes and across studies, and modelling potentially heterogeneous differential signals across studies via latent variables. 

Nicholls one of many new citizens that makes Pitt great

PITTSBURGH POST-GAZETTE - In the Heinz History Center’s Great Hall, Senior Judge D. Michael Fisher recently administered the oath of allegiance to immigrants as they stood before a U.S. flag. Human genetics researcher ROBERT NICHOLLS was there. “I grew up in Australia and finished my undergraduate work in Melbourne,” he said. After earning a doctorate in England, he lived in Boston, Florida, Cleveland and Philadelphia before coming to Pittsburgh.... 

Cut off: A bereft nervous system may eat away at the will to live

PITTMED MAGAZINE - Someone once told Eve, a teen with severe intractable depression, "You just aren’t working hard enough in therapy." And then her doctor, HuGen’s LISA PAN—along with fellow Human Genetics faculty member DAVID FINEGOLD—learned that she can’t seem to make critical neurotransmitters. As it turned out, Eve’s CSF level of biopterin, a chemical the body uses to synthesize several neurotransmitters, was through the floor. 

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