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Human Genetics Faculty & Research News

Finegold talks about the importance of handling WES properly

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MD ALERT via REUTERS - Whole exome sequencing (WES) may identify genetic causes of idiopathic liver disease after an unrevealing conventional workup, researchers say. "WES is now broadly available in a wide range of genomics laboratories, both hospital-based and commercial. The interpretation of this data is profoundly challenging and absolutely requires special expertise within the laboratory."   

HUGEN's Beth Roman receives 2019 Craig Teaching Award

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Congratulations to HUGEN's Beth Roman on winning this year's award honoring faculty who have excelled in the teaching and mentoring of students. "Dr. Roman creates the best possible learning environment by making her classroom open to all questions, comments, and points of discussion. She actively seeks feedback from students in order to continually make improvements to the courses she teaches and is in charge of," said one nominator.   

Parker says: It takes a village, privilege and individual effort

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THE CAMPUS - In a lecture at Allegheny College titled Genetic Enhancement: A Game Changer for Sports and Social Justice? HUGEN's Lisa Parker said that many components of individual effort are not in the individual's control but are rather the influenced by unjust social practices that are beyond the individual's control.  

Gollin attends PBCC event celebrating Wendie Berg

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HUGEN's Susanne Gollin, a past recipient, was invited to participate in an event this month to celebrate Wendie Berg winning one of this year's PA Breast Cancer Coalition (PBCC) research grants to support her breast cancer diagnostic imaging research, bringing the total that PBCC has awarded to researchers at Pitt and UPMC to over one million dollars. Gollin was gifted with a PBCC lab coat.   

Padiath and colleagues 'see' dual-layered scaffolding of cellular nuclei

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ASPPH FRIDAY LETTER - Our cells sometimes have to squeeze through pretty tight spaces. And when they do, the nuclei inside must go along for the ride. Using super-sensitive microscopic imaging, HUGEN’s Quasar Padiath made a fundamental biological discovery that explains the structure of the nuclear envelope and gives tantalizing clues as to how cells squish through narrow openings without springing a leak.  

Grubs receives 2019 Chancellor's Distinguished Teaching Award

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Human genetics professor Robin Grubs was honored with the 2019 Chancellor's Distinguished Teaching Award. Presented at the annual Honors Convocation ceremony in February, the award recognizes excellence in teaching by members of the University of Pittsburgh’s faculty as evidenced by students, colleagues, department chairs, and deans. Each faculty awardee wins a cash prize of $2,000 and a grant of $3,000 to support his or her teaching activities.... 

Scientists uncover dual-layered scaffolding of cellular nuclei (video)

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES  - Using super-sensitive microscopic imaging, a team of scientists led by HuGen's Quasar Padiath has made a fundamental biological discovery that explains the structure of the nuclear envelope and gives tantalizing clues as to how cells squish through narrow openings without springing a leak. The findings also could be key to untangling the mechanisms underlying several genetic diseases.  

Vanyukov interprets new study findings and their relationship to the gateway drug theory

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THE ATLANTIC - With adolescent marijuana use stagnant and alcohol and cigarette use delayed and declining among minors, it might be time to leave the popular understanding of the gateway drug in the past. “Gateway theory only relates to initiation of drug use, not progression to abuse," says HUGEN's Michael Vanyukov. Instead, he suggests an alternate theory of substance abuse known as the common-liability theory.   

Gollin joins Jewish Healthcare Foundation Board of Trustees

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Congratulations to HUGEN's SUSANNE GOLLIN for being invited to join the Jewish Healthcare Foundation Board of Trustees next year. They are meeting next month to explore the question: "What are the appropriate roles, the responsible mandates and interventions, of healthcare governing boards in guaranteeing the safety of the hospitals and systems that they oversee?"  

Parker comments on new study that shows downside of medical crowdfunding

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REUTERS - While crowdfunding platforms can fill insurance gaps, helping patients pay for essential care and avoid medical debt, they are also being used to raise large sums of money for ineffective and experimental treatments, a new study suggests. The study muddies the issue by mixing clearly unproven therapies with treatments that are being tested in clinical trials, said HUGEN's Lisa Parker.  

Urban weighs in on discovery of molecule that gives living tissues their flexibility

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MIT NEWS - The stretchiness that allows living tissues to expand, contract, stretch, and bend throughout a lifetime is the result of a protein molecule called tropoelastin. HUGEN's ZSOLT URBAN, says “elastin is necessary for the proper working of stretchy organs such as blood vessels, heart valves, and lungs. However, the full structure of tropoelastin was unknown until now."  

Minster discusses examining genetic susceptibility to obesity in Samoa (video)

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HUGEN's RYAN MINSTER talks about how his interest in body composition and obesity led him to Samoa. "Polynesians and Micronesians have some of the highest rates of overweight and obesity in the world." He and his lab explored genetic factors that could be leading to increases in weight in a sample of Samoans.    

Pitt's LifeX biotechnology center starts with $2M grant from Hillman Foundation

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TRIB LIVE – LifeX will tackle some of medicine’s biggest challenges for its initial focus. They announced a $2 million grant from the Henry L. Hillman Foundation to help it get off the ground. “The LifeX team is proud to have the Hillman Foundation's support as we continue this longstanding legacy of facilitating cures to the most devastating and prevalent causes of suffering and death”, says CEO of LifeX and HUGEN’s DIETRICH STEPHAN. 

HuGen alumna's creation aims to reduce radiation exposure from stress tests

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PITTWIRE - Doctoral alumna MALIHA ZAHID ( HUGEN  '09) aims to reduce the amount of radiation that patients are exposed to when undergoing diagnostic imaging. Her creation, to be used during cardiac stress tests, was a previous Pitt PInCh winner.  

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