March 2018


PhenX Newsletter - Information and Updates Issue 29. March 22, 2018


Chinese Translations of Protocols Available - January 18, 2018

The Toolkit released Chinese translations of 226 PhenX protocols in January 2018. The translations were published in June 2017 in Phenotypes and Exposures Toolkits, a book by Shanghai Scientific & Technical Publishers (ISBN:9787547834787). The book includes the translations of PhenX protocols from 21 research domains.

The translations were produced by Dr. Jim Zhang's team of the Shanghai Jiao Tong University School of Medicine. Formerly of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Dr. Zhang served as a National Institutes of Health (NIH) liaison to the PhenX project and was a member of the Reproductive Health Working Group (WG).

Chinese translations are available as a PDF file of the protocol and as a Data Collection Worksheet. Users can also find Chinese translations through the "Available Translation" filter on the Search page.


Psychiatric, Psychosocial, Neurology, and Respiratory Domains Updated - November 28, 2017

Four research domains in the PhenX Toolkit were updated in November 2017, culminating extensive review by two Expert Review Panels (ERPs) and the Steering Committee’s (SC’s) approval of their recommendations.

Updates to the Neurology, Psychiatric, and Psychosocial domains followed recommendations by the ERP led by Dr. Ruth Ottman of Columbia University and Dr. Bernice Pescosolido of Indiana University. The SC liaison to this ERP was Dr. Lindsay Farrer. The ERP’s recommendations included adding 6 new measures and 14 new protocols, replacing 4 protocols, and updating 3 protocols.

The ERP led by Dr. Gail Weinmann of the National Heart, Lung, and Blood Institute's (NHLBI) Division of Lung Diseases, reviewed measures in the Respiratory domain. The SC liaison to this ERP was Dr. Daniel Masys of the University of Washington. The ERP’s recommendations included adding 1 new protocol, replacing 2 protocols, and updating 3 protocols. No new measures were recommended.

The "Process and Review" section of each protocol provides a summary of ERP changes. Protocols that have been updated, replaced, or retired are available on the Archived Measures and Protocols page.


Hemophilia Inhibitors Working Group Begins Work - January 19, 2018

The Hemophilia Inhibitors Working Group (WG) held introductory webinars on January 19 and February 1, 2018. The National Heart, Lung, and Blood Institute (NHLBI) funded this work in September 2017 to identify PhenX measures for hemophilia inhibitors. The goal is to select 10 measures for inclusion in the PhenX Toolkit to support hemophilia inhibitors research.

The WG is co-chaired by Dr. Steven Pipe of the University of Michigan and Dr. Barbara Konkle of Bloodworks Northwest. The NHLBI project scientists are Dr. Donna DiMichele and Dr. Ellen Werner.

Consistent use of the standard measures from this project will establish a common currency to help researchers better understand the etiology, progression, and treatment of hemophilia.


PhenX Steering Committee Holds Meeting - January 23-24, 2018

The PhenX Steering Committee (SC) met in Chevy Chase, MD, in January. The SC heard updates on the Geriatrics Working Group (WG) from its chair, Dr. Mary Sano of the Icahn School of Medicine at Mount Sinai, with additional comments from Dr. Lindsay Farrer of Boston University, who was the SC liaison to the WG. The SC also discussed upcoming Working Groups (WGs) and Expert Review Panels (ERPs). PhenX Toolkit navigation design lead, Helen Pan, demonstrated the new navigation design for the Toolkit and summarized feedback received from focus groups in January.

The SC heard from several presenters including:
   •Dr. Cathie Laurie and Dr. Adrienne Stilip of University of Washington presented Trans-Omics for Precision Medicine (TOPMed) Program .
   •Dr. Donna DiMichele of the National Heart, Lung, and Blood Institute (NHLBI) presented the genesis of the new project PhenX Measures for Hemophilia Inhibitors Research.
   •Dr. David Kaeli of Northeastern University presented Puerto Rico Testsite for Exploring Contamination Threats (PROTECT).


PhenX on the Move

Mike Phillips presented "The PhenX Toolkit: Adding a Resource for Geriatrics Research," a poster, at the American Society of Human Genetics (ASHG) conference in Orlando, FL, on October 20, 2017. Most recently, Mike has been serving as the supervisor for the Geriatrics Working Group.

Dr. Gary Swann of Stanford Prevention Research Center was presented the 2018 President’s Award at the Society for Research on Nicotine and Tobacco (SRNT)’s annual meeting in Baltimore, MD, on February 22, 2018. Dr. Swan, co-chair of the PhenX Tobacco Regulatory Research Panel, was the founding editor of SRNT’s journal, Nicotine & Tobacco Research, which is celebrating its 20th anniversary this year.

Dr. Kenneth Sher of the University of Missouri, Columbia, presented the Mark Heller Honorary Lecture at the National Institute on Alcohol Abuse and Alcoholism (NIAAA) in Bethesda, MD, on November 30, 2017. The lecture was titled "Development and Resolution of Alcohol Use Disorders." Dr. Sher was chair of the PhenX Substance Abuse and Addiction Scientific Panel.


Explore the PhenX Toolkit
Top Domains and Top Measures

The Top 5 Domains and Top 5 Measures as of February 2018 are listed below. The top domains and measures are listed on the Toolkit Use Statistics Page.

Top 5 Domains in the PhenX Toolkit Top 5 Measures in the PhenX Toolkit
1. Demographics 1. Current Age
2. Anthropometrics 2. Gender
3. Alcohol, Tobacco and Other Substances 3. Ethnicity
4. Environmental Exposures 4. Race
5. Cardiovascular 5. Cigarette Smoking Status


Featured: Psychiatric, Psychosocial, and Neurology Expert Review Panel Co-Leaders  
Ruth Ottman, PhD

Dr. Ottman is professor of epidemiology (in Neurology and the Sergievsky Center), deputy director for research at   Gertrude H. Sergievsky Center, Columbia University, and research scientist at the Division of Epidemiology, New York   State Psychiatric Institute. She is also deputy director of the Columbia Center for Research on Ethical, Legal, and Social Implications of Psychiatric, Neurologic, and Behavioral Genetics. She received her BA degree in zoology and PhD in genetics from the University of California at Berkeley, and she has been at Columbia University throughout her career. Dr. Ottman is a genetic epidemiologist whose research addresses the role of inherited factors in susceptibility to neurologic disorders, primarily focusing on epilepsy. Her research group was the first to recognize the epilepsy syndrome autosomal dominant epilepsy with auditory features and to identify LGI1 as a major susceptibility gene for the disorder. She has investigated a wide range of issues in the genetic epidemiology of the epilepsies and is currently researching the clinical and psychosocial impact of genetic information on individuals with epilepsy and their family members. She is a major collaborator in the Epilepsy Phenome/Genome Project and in the Epi4K Center without Walls for Collaborative Research in the Epilepsies. She is the 2014 recipient of the Clinical Scientist Research Recognition Award from the American Epilepsy Society, and she has served on the editorial board of Epilepsia, on the Professional Advisory Board and the Board of Directors of the Epilepsy Foundation, and on numerous committees of the American Epilepsy Society. She was a member of the International League Against Epilepsy (ILAE) Genetics Commission from 1998 to 2013, and she was chair from 2005 to 2009. She is currently a member of the Comorbidities Task Force of the ILAE Epidemiology Commission.


Bernice A. Pescosolido, PhD

Dr. Pescosolido is distinguished professor of sociology at Indiana University and director of the Indiana Consortium for Mental Health Services Research. Her research and teaching focus on social issues in health, illness, and healing. Dr. Pescosolido's research agenda addresses how social networks connect individuals to their communities and to institutional structures, providing the "wires" through which people's attitudes and actions are influenced. This agenda encompasses three basic areas: health care services, stigma, and suicide research. In the area of stigma research, Dr. Pescosolido has led a team of researchers on a series of national and international stigma studies, including the first U.S national study in 40 years, the first national study of children's mental health, and the first global study of stigma in 16 countries representing all 6 inhabited continents. Through her work on the utilization of health care, she has developed, tested, and continues to evolve a theoretical model known as the Network Episode Model (NEM). The NEM synthesized research from both quantitative and qualitative traditions in the social and behavioral, public health, and medical sciences on individuals’ responses to the onset of mental health and substance use/abuse problems and switched the central focus from individual mental calculus to social network influences. Pescosolido has received many career, scientific, and community awards from the National Institutes of Health, the American Sociological Association, the American Public Health Association, and Mental Health America. In 2011, she was the recipient of the Wilbur Lucius Cross Medal from Yale University. She is also co-director of the recently launched Indiana University Network Science Institute.

Featured: Respiratory Expert Review Panel Leader
Gail G. Weinmann, MD

Dr. Weinmann is the deputy director of the Division of Lung Diseases (DLD) at the National Heart, Lung, and Blood  Institute (NHLBI). Dr. Weinmann joined NHLBI in 1995 and has served as deputy director since 2008. Prior to her current appointment, Dr. Weinmann served as chief of DLD's Airways Biology & Disease Branch. As deputy director, Dr. Weinmann oversees the direction and administration of many programs and initiatives that cut across DLD's diverse research portfolio in lung diseases. Since joining NHLBI, Dr. Weinmann has managed a wide range of extramural lung research programs, including genetics, basic and clinical research, clinical trials, and demonstration and outreach projects. Dr. Weinmann received her undergraduate degree from Barnard College and her medical degree from Weil Cornell Medical School. She trained in internal medicine at Georgetown University and the University of California, San Francisco, and in pulmonary at Johns Hopkins University. After her pulmonary fellowship, she joined the faculty of the Johns Hopkins Bloomberg School of Public Health with a joint appointment in the School of Medicine, conducting research on the health effects of ground-level ozone.

Research Team Members
RTI International National Human Genome Research Institute
Carol M. Hamilton, PhD      Principal Investigator Erin Ramos, PhD, MPH Project Scientist
Tabitha Hendershot Co-Investigator Margaret Ginoza Scientific Program Analyst
Wayne Huggins, PhD Co-Investigator  
Mike Phillips, MS Investigator Additional Funding:
Deborah Maiese, MPA Consensus Coordinator National Heart, Lung, and Blood Institute
Lisa Kilpatrick, MS Investigator Ellen Werner, PhD Project Scientists
Helen Pan, PhD Navigation Design Lead Donna DiMichele, MD  
Stephen Hwang Toolkit Lead National Institute on Drug Abuse
Pat West Communications Lead Tisha R. A. Wiley, PhD NIH Liaison

Previous PhenX Newsletters         Phenx Steering Committee

PhenX is supported by Genomic Resource for PhenX Toolkit (U41), funded by the National Institutes of Health's (NIH's) National Human Genome Research Institute (NHGRI), with co-funding by the National Institute on Drug Abuse (NIDA). Supplemental funding was provided by the Tobacco Regulatory Science Program (TRSP), the Food and Drug Administration (FDA), the National Institute of Mental Health (NIMH) and the National Heart, Lung, and Blood Institute (NHLBI).


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