Name Affiliation Topic Category - ashg.org · Cytogenetics at Florida Cancer Specialists and Research Institute. ... In addition to co-authoring the Handbook of ... development of

ASHG Career Paths in Genetics ReceptionFriday, October 20, 2017, 7:15 pm-9:15 pm

Name Affiliation Topic Category

Katy Phelan, PhD, FACMG Florida Cancer Specialists and Research Institute Academic Research Faculty

Peng Jin, PhD Emory University Academic Research Faculty

Heather C. Mefford, MD, PhD University of Washington, Seattle, WA Academic Research Faculty

Sanjay Bidichandani, MBBS, PhD University of Oklahoma Health Sciences Center Academic Research Faculty

Corinne Engelman, MSPH, PhD University of Wisconsin - Madison Academic Research Faculty

Karen W. Gripp, MD A.I. duPont Hospital for Children/Nemours Clinical Medical Genetics

Hans Tomas Bjornsson, MD, PhD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine Clinical Medical Genetics

Pankaj Agrawal, MD Boston Children's Hospital Clinical Research Translation

Sharon Plon, MD, PhD Baylor College of Medicine Clinical Research Translation

William Andrew (ANDY) Faucett, MS, LGC Geisinger Clinical Research Translation

Robert E. Pyatt, PhD Sanford Imagenetics and Univ. of South Dakota Diagnostics

Debora Mancini-DiNardo, Ph.D., FACMG Myriad Genetics Diagnostics

Stephanie Malia Fullerton, DPhil University of Washington, Seattle Ethical Legal Social Issues (ELSI)

Vence L. Bonham, JD National Human Genome Research Institute Ethical Legal Social Issues (ELSI)

Erica Ramos, MS, LCGC Illumina, Inc. and NSGC Genetic Counseling

Karen Hanson, MS, MBA The American Society of Human Genetics Genetic Counseling

Carla Easter, PhD National Human Genome Research Institute Genetics Education

Elizabeth Tuck, MA National Human Genome Research Institute Genetics Education

Shaun Waters, MBA, CLSp(CG) Irvine Scientific Industry R&D

Tom Barber, PhD LifeOmic, Inc. Industry R&D

Lisa Frye, PhD Alexion Pharmaceuticals Inc Industry R&D

Jeremy Grushcow, PhD, JD Sequence Bio Industry, Other

Lauren Walters-Sen, PhD, FACMG Cincinatti Children's Hospital & Medical Center Industry, Other

Rebecca Iskow Torene, PhD, MMSc GeneDx Industry, Other

Sylvia Metcalfe, PhD Murdoch Children's Research Institute and The University of Melbourne Public Health

Timothy Alvin Thornton, PhD University of Washington Public Health

ASHG Career Paths in Genetics ReceptionFriday, October 20, 2017, 7:15 pm-9:15 pm

Name Affiliation Topic Category

Carla Easter, PhD National Human Genome Research Institute Genetics & Education Fellowship

Teresa Ramirez, PhD The American Society of Human Genetics/National Human Genome Research Institute Genetics & Education Fellowship

Cristina Kapustij, MS National Institutes of Health, National Human Genome Research Institute Genetics & Public Policy Fellowship

Danielle Nichole Meadows, PhD The American Society of Human Genetics/National Human Genome Research Institute Genetics & Public Policy Fellowship

Jillian Galloway, MS The American Society of Human Genetics/National Human Genome Research Institute Science Policy

Derek T. Scholes, PhD The American Society of Human Genetics Science Policy Christa Wagner, PhD The American Society of Human Genetics/National Human Genome Research Institute Genetics & Public Policy Fellowship

Sara Cullinan, PhD American Journal of Human Genetics Science Writing/Editing

Laura M. Zahn, PhD AAAS Science Writing/Editing

Renata Pellegrino, MSc, PhD The Children's Hospital of Philadelphia Scientific Administration

Alexander Runko, PhD National Heart, Lung, and Blood Institute, National Institutes of Health Scientific Administration

Elaine B. Spector, PhD, FACMG University of Colorado School of Medicine, Children's Hospital Colorado Scientific Consulting

Jeffrey L. Ihnen, JD Rothwell, Figg, Ernst & Manbeck, pc Tech Transfer/IP

Rivka Glaser, PhD Stevenson University Undergraduate Teaching Faculty

Doug Dluzen, PhD Morgan State University Undergraduate Teaching Faculty

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Academic Research Faculty Katy Phelan, PhD, FACMG [email protected] Director of Cytogenetics, Florida Cancer Specialists and Research Institute

I earned my Doctorate in Human Genetics from Medical College of Virginia, Richmond, and completed a post-doctoral fellowship in cytogenetics at Greenwood Genetic Center, SC. I have served as cytogenetic lab director at non-profit labs, reference labs, and academic labs. I am currently the Director of Cytogenetics at Florida Cancer Specialists and Research Institute. I am a member of American Society of Human Genetics and on the Board of Directors of the American College of Medical Genetics, also serving as Editor-in-Chief of the ACMG Newsmagazine. In 1998, I established the 22q13 Deletion Support Group, an active network of parents and professionals serving to educate and increase awareness of this rare syndrome. Now called Phelan-McDermid Syndrome (PMS), an international family support meeting and research conference continues to meet biennially to promote education, encourage research, increase awareness, and provide networking opportunities for families affected with this disorder.

Academic Research Faculty Peng Jin, PhD [email protected] Professor of Human Genetics, Vice Chair, Emory University

Peng Jin, Ph.D., is Professor and Vice Chair in the Department of Human Genetics at Emory University School of Medicine. Research program in Dr. Jin’s laboratory focuses on the role of epigenetics and noncoding RNAs in human diseases. Dr. Jin has combined various disciplines (genetics, biochemistry, chemistry, human genetics/genomics, and bioinformatics) to understand the roles of epigenetic alphabet in human diseases, particularly neurodevelopmental and neurodegenerative disorders. Dr. Jin is the recipient of Beckman Young Investigator Award, Basil O'Connor Scholar Research Award from March of Dimes, Alfred P. Sloan Research Fellow in Neuroscience and NARSAD Independent Investigator Award.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Academic Research Faculty Heather C. Mefford, MD, PhD [email protected] Associate Professor, Pediatrics & Genetic Medicine, University of Washington, Seattle, WA

Dr. Mefford is a physician scientist who earned her MD and PhD in Genetics at the University of Washington, where she also completed clinical Pediatrics and Medical Genetics training. Her research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease, with a major focus on severe pediatric epilepsy syndromes. Using a combination of targeted sequencing, whole exome sequencing and copy number analyses, her group has identified numerous novel genes for epileptic encephalopathies, including CHD2, SLC6A1, GRIN2A and GNB1. She has also been involved in the discovery and characterization of recurrent deletion and duplication syndromes associated with a range of neurodevelopmental disorders. Dr. Mefford’s clinical interests parallel her research interests and include seeing patients with severe epilepsies and neurocognitive defects of unknown etiology and patients with genomic disorders.

Academic Research Faculty Sanjay Bidichandani, MBBS, PhD [email protected] Professor of Pediatrics, Section Head of Genetics, University of Oklahoma Health Sciences Center

Sanjay Bidichandani received his medical degree from University of Pune (India) and a PhD in Medical Genetics from Glasgow University (UK). Following postdoctoral training at the Baylor College of Medicine, where he helped discover the gene for Friedreich ataxia, he established his lab at the University of Oklahoma College of Medicine. He is currently the Claire Gordon Duncan Chair in Genetics and David Boren Professor of Pediatrics. His research, funded by NIH & MDA, is focused on the epigenetic defect in Friedreich ataxia. He has served as Assistant Dean in the College of Medicine, and Vice President for Research at the MDA. He currently serves on the Board of Directors of the Friedreich Ataxia Research Alliance, and on the Research Advisory Committee of the MDA. He has mentored several PhD students and postdoc fellows. He is a four-time recipient of the Aesculapian award for excellence in teaching, and in 2017 was named the Stanton L. Young Master Teacher.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Academic Research Faculty Corinne Engelman, MSPH, PhD [email protected] Associate Professor of Population Health Sciences, University of Wisconsin - Madison

Dr. Engelman is a genetic epidemiologist interested in complex diseases and quantitative traits of aging, such as Alzheimer's disease, cognitive function, Alzheimer's-related biomarkers, and vitamin D deficiency. She is particularly interested in gene-gene and gene-environment interactions and methodologic approaches to studying the genetic contribution to complex phenotypes. Recent projects include examining the interaction between vitamin D intake and genetic factors to inform precision medicine efforts in vitamin D supplementation, and integrating multi-omic data to determine interactions influencing pre-clinical Alzheimer's traits.

Clinical Medical Genetics Karen W. Gripp, MD [email protected] Chief, Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours

Dr. Karen Gripp is the Chief of the Division of Medical Genetics and the Medical Director of the Molecular Diagnostic Laboratory at the A.I. du Pont Hospital for Children/Nemours in Wilmington, DE. She is a Professor of Pediatrics at the S. Kimmel Medical College at T. Jefferson University. She is board certified in pediatrics and clinical and clinical molecular diagnostic genetics. Her areas of particular clinical expertise include craniofacial malformations and rasopathies. Costello syndrome is the focus of her research and she is closely involved with the Costello syndrome family support network as the co-director of the professional advisory board. In addition to co-authoring the Handbook of Physical Measurements, Dr. Gripp has >100 peer reviewed publications. Her professional activities include membership in the ClinGen panel on rasopathies, an active role in ACMG committees, and organizing the “Diagnostic Dilemmas” session at the annual ASHG meeting.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Clinical Medical Genetics Hans Tomas Bjornsson, MD, PhD [email protected] Assistant Professor of Clinical Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine

Hans Tomas Bjornsson received his medical degree from the University of Iceland and a Ph.D. degree in human genetics from Johns Hopkins, followed by combined clinical training in pediatrics and clinical genetics at Johns Hopkins. Dr. Bjornsson joined the faculty at the McKusick-Nathans Institute of Genetic Medicine and the Department of Pediatrics in 2012, where he runs a clinic dedicated to patients with imprinting disorders and Mendelian disorders of the epigenetic machinery (Epigenetic and Chromatin Clinic). His research on a mouse model of Kabuki syndrome, a Mendelian disorder of the histone machinery, has revealed that manipulation of the epigenome may be a possible therapeutic approach for the intellectual disability seen in this disorder. Dr. Bjornsson has received numerous awards for both clinical care and scientific work, including the Frank Coulson, Jr. Award for Clinical Excellence (2012) and the William K. Bowes Jr. Award in Medical Genetics (2014).

Clinical Research Translation Pankaj Agrawal, MD [email protected] , Boston Children's Hospital

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Clinical Research Translation Sharon Plon, MD, PhD [email protected] Professor of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine

Dr. Plon is a diplomat of ABMGG. She completed her medical genetics training at the University of Washington. Dr. Plon has been a faculty member of Baylor College of Medicine and Texas Children’s Hospital for 24 years. Her research includes identification of novel cancer susceptibility genes and implementation of genomic testing in medicine. Dr. Plon and D. William Parsons were principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients from highly diverse patient population and this study is now being expanded into several different centers in Texas (KidsCanSeq). Dr. Plon is co-chair of the Germline Reporting Committee of the NCI COG Pediatric MATCH trial Dr. Plon is also principal investigator of the NHGRI Clinical Genomics Resource (ClinGen) which is developing national databases and curation interfaces to improve assessment of all types of clinical variation.

Clinical Research Translation William Andrew (ANDY) Faucett, MS, LGC [email protected] Professor / Director of Policy & Education, Geisinger

Andy Faucett directs community engagement and education for the MyCode® Community Health Initiative. He focuses on the return of genetic research results, genetic testing oversight, ELSI issues, clincian education, genetic counseling models, patient registries, and DTC testing. He developed www.duchenneconnect.org, www.simonsvipconnect.org, and www.GenomeConnect.org. He initially led the education efforts, development of the patient registry and CADRE, the ethical, legal and social issues aspect of The NIH ClinGen project. He has a B.S. from the Baptist College at Charleston, M.S. in Human Genetics from Sarah Lawrence College, ABGC board certification and is licensed as a Genetic Counselor in Pennsylvania. He has served on the NSGC, ABGC and NCHPEG Boards of Directors, the NSGC Public Policy Committee, and the ASHG Information and Education Committee. He serves on the Geisinger IRB. He was at Emory; Baylor; Mem. Med Cntr., Savannah, GA; and the CDC prior to Geisinger.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Diagnostics Robert E. Pyatt, PhD [email protected] Director of Sanford Medical Genetics Lab, Sanford Imagenetics and Univ. of South Dakota

Robert Pyatt earned a B.S. in Biology with a minor in Theater from Indiana University, an M.S. in Biology from Purdue University, and a Ph.D. in Pathology from Ohio State University. Dr. Pyatt is certified by the American Board of Medical Genetics and Genomics in Clinical Molecular Genetics and currently serves as a Director of the Sanford Medical Genetics Laboratory for the Imagenetics Program at Sanford Health. Dr. Pyatt is also an Associate Professor in the Department of Internal Medicine at the University of South Dakota. For the last thirteen years, he has served as a consultant on DNA evidence in forensic cases. His passion is science education, both in the classroom and in informal learning environments. This includes informal outreach workshops called "Weird Science" which he developed to promote science and foster critical thinking skills to lay audiences.

Diagnostics Debora Mancini-DiNardo, Ph.D., FACMG Laboratory Director, Myriad Genetics

I received my Bachelor of Science degree from the University of Windsor, in Windsor, Ontario, Canada. I then attended the University of Western Ontario to obtain my Ph.D. in Zoology/Molecular Biology. My thesis centered on methylation mediated inactivation of tumor suppressor genes, including BRCA1. I subsequently moved to the US to take a post-doctoral fellowship at Princeton University with Dr. Shirley Tilghman where I studied the molecular basis of imprinting using mouse models. Upon completion of my postdoctoral studies, I became a fellow in the ABMGG Training Program in Clinical Molecular Genetics at Harvard Medical School. I currently work as an ABMGG board-certified Laboratory Director at Myriad Genetic Laboratories, based in Salt Lake City, Utah.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Ethical Legal Social Issues (ELSI) Stephanie Malia Fullerton, DPhil [email protected] Associate Professor of Bioethics & Humanities, University of Washington, Seattle

Dr. Fullerton is cross-trained in human genetics and bioethics, having received a PhD in Human Population Genetics from the University of Oxford and then a fellowship to retrain in Ethical, Legal, and Social Implications (ELSI) research from the NIH National Human Genome Research Institute. She serves as the ELSI lead for the Clinical Sequencing Evidence-Generating Research (CSER) Consortium coordinating center, co-chairs the TOPMed Consortium ELSI Committee, and helps lead the Patient Engagement workgroup for the Kidney Precision Medicine Project Central Hub. She is a co-Investigator on the Community-Based Evaluation of APOL1 Genetic Testing in African Americans study, and is affiliated with the UW Center for Genomics and Healthcare Equality, a Center of Excellence in ELSI Research.

Ethical Legal Social Issues (ELSI) Vence L. Bonham, JD [email protected] Senior Advisor for Genomics and Health Disparities and Associate Investigator, National Human Genome Research Institute

Vence L. Bonham, J.D., serves as the Senior Advisor to the National Human Genome Research Institute (NHGRI) Director on Genomics and Health Disparities and leads the Institute’s program to ensure that all populations benefit from the advances of genomics research,as well as promoting inclusion of diverse participants in research.

Mr. Bonham is also an associate investigator at NHGRI in the Division of Intramural Research Social and Behavioral Research Branch. He leads the Health Disparities Genomics Unit, which conducts research that evaluates approaches to integrating new genomic knowledge and precision medicine into clinical settings without exacerbating inequities in healthcare delivery. His research focuses primarily on the social influences of new genomic knowledge, particularly in communities of color. He studies how genomics influences the use of the constructs of race and ethnicity in biomedical research and clinical care and the role of genomics in health inequities.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Genetic Counseling Erica Ramos, MS, LCGC [email protected] Clinical Head, Healthy Genome Initiatives and President-Elect, NSGC, Illumina, Inc. and NSGC

Erica Ramos, MS, LCGC is the Clinical Head for Illumina’s “Healthy Genome Initiatives” team and the 2017 President-Elect for the National Society of Genetic Counselors, the leading professional organization for genetic counselors more than 3500 members strong. After 11 years in patient care, Ms. Ramos joined Illumina in the Clinical Services Laboratory, where she managed the clinical group that implemented interpretation and reporting processes for clinical whole genome sequencing (cWGS). Currently, she focuses on advancing the use of cWGS by providing access and education to healthy individuals through the Understand Your Genome program, MyGenome visualization software and other collaborations. Her focus on education extends to genetic counseling students and she is an Adjunct Professor in the Genetic Counseling Department at Augustana University. She also tweets from @ERamosSD about genomics and genetic counseling, music, travel and other interests.

Genetic Counseling Karen Hanson, MS, MBA [email protected] Health Professional Education Programs Manager, The American Society of Human Genetics

Karen Hanson is the Programs Manager for Health Professional Education at the American Society of Human Genetics. She has over 20 years’ experience as a genetic counselor in multiple roles. She spent many years as a clinical genetic counselor, working mainly in pediatric and cancer genetics. She has held a number of education-related positions, serving as the first program director for University of Maryland’s Masters in Genetic Counseling program, as a consultant and writer for the National Coalition for Health Professional Education in Genetics (NCHPEG), and as a Medical Science Liaison for a genetic testing laboratory. In addition, she has taught general biology courses as an adjunct professor at two community colleges and lectured at several genetic counseling programs. In 2007, she received her MBA from Loyola College in Maryland. She has had held multiple diverse roles in industry, government and clinical research. Ms. Hanson has also currently serves on the Education committee of the National Society of Genetic Counselors.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Genetics Education Carla Easter, PhD [email protected] Branch Chief, Education and Community Involvement Branch, National Human Genome Research Institute

Carla Easter is chief for the Education and Community Involvement Branch of the National Human Genome Research Institute (NHGRI). From 2003-2006, she was director of outreach for Washington University School of Medicine’s Genome Sequencing Center. Before assuming her role as outreach director, Dr. Easter was a research associate in the Department of Education at Washington University (2001-2003) where she explored the notions of science among secondary students. She served as a project associate for the Quality Education for Minorities Network (2000-2001). From 1997-2000, Dr. Easter conducted post-doctoral research at Washington University School of Medicine on the virulence factors associated with Streptococcus pyogenes. Dr. Easter earned her bachelor’s degree in Microbiology from the University of California, Los Angeles and her doctoral in Biology with an emphasis on Molecular Genetics from the University of California, San Diego.

Genetics Education Elizabeth Tuck, MA [email protected] Genomics Education Specialist, National Human Genome Research Institute

Elizabeth Tuck is a Genomics Education Specialist at the National Human Genome Research Institute (NHGRI) where she works on K-16 genomics education and community engagement. She recently coordinated a national meeting of participants from academia, industry, government, and non-profit to address the need for genomic literacy in the public, K-16 students, and healthcare professionals, and she co-chaired the K-16 Working Group. At NHGRI she mentors a high school intern and post-baccalaureate fellow. Previously, she was a Genetics and Education Fellow with ASHG and NHGRI, where she worked on curricular resources, teacher professional development, and training scientists in public engagement at the Smithsonian Institution’s National Museum of Natural History (NMNH). Before her fellowship, Ms. Tuck taught high school biology at the Wellington School in Columbus, Ohio and informal STEM education at the St. Louis Science Center in St. Louis, Missouri where she developed inquiry-based curricula incorporating modern research to engage students in STEM. Ms. Tuck earned her B.A. in biology and psychology at Hanover College in Hanover, Indiana, and her M.A. in molecular cell biology at Washington University in St. Louis, Missouri. Her graduate research focused on molecular mechanisms of neurological and neuromuscular disorders, such as Charcot-Marie-Tooth disease (CMT) and limb-girdle muscular dystrophy (LGMD).

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Industry R&D Shaun Waters, MBA, CLSp(CG) [email protected] Associate Product Manager, Cytogenetics, Irvine Scientific

Shaun is the Associate Product Manager, Cytogenetics for Irvine Scientific. He has over 14 years of experience in Cytogenetics as a licensed Clinical Laboratory Scientist (CLSp(CG)). He brings extensive industry knowledge, specifically in cell culture media and tissue culture of various samples including amniotic fluid, CVS, POC, bone marrow, peripheral blood and solid tumors. Shaun is also well versed in karyotyping, FISH, and microscopy for cytogenetic analysis.

Shaun received his BS in Biochemistry from University of California, Riverside, and earned his MBA at the University of Southern California, Marshall School of Business.

Industry R&D Tom Barber, PhD [email protected] VP Genomics & Computational Biology, LifeOmic, Inc.

Tom has over 25 years’ experience studying genetic causes of human diseases such as cancer, deafness, myotonic dystrophy, and other inherited diseases. During his postdoctoral fellowship at Johns Hopkins Medical Institute, Tom’s discoveries contributed to the first exome studies of cancer. He began his industry career at Eli Lilly in 2006 as an oncology drug hunter and biomarker developer. In 2010, Tom created and led the Next Generation Sequencing platform at Eli Lilly which identified preclinical and clinical models for personalized medicine in oncology, diabetes, neuroscience, and cardiovascular disease. In 2014, Tom became the genomics leader at Beckman Coulter developing solutions for NGS sample preparation. Tom has studied human molecular genetics throughout his career, earning a BS in Zoology-Genetics from Michigan State University in 1993, a MS in Human and Molecular Genetics from Baylor College of Medicine in 1995, and a PhD in Genetics from Michigan State University in 2000.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Industry R&D Lisa Frye, PhD [email protected] , Alexion Pharmaceuticals Inc

Industry, Other Jeremy Grushcow, PhD, JD [email protected] Chief Business Officer, Sequence Bio

Jeremy is the Chief Business Officer at Sequence Bio. He has over fifteen years' experience with public and private companies, and venture capital and private equity firms, in the acquisition, financing, development, operation, licensing and sale of pharmaceutical and life sciences businesses. Prior to Sequence, Jeremy was the EVP, Strategic Development at Antibe Therapeutics, where he was a member of the senior management team and was responsible for business development, legal functions, and risk management. Jeremy was also one of the founding members of the Ontario Bioscience Innovation Organization and helped create the mentorship program at Life Sciences Ontario. Jeremy holds a B.Sc. (Human Biology) from the University of Toronto, a Ph.D. (Molecular Genetics & Cell Biology) from the University of Chicago, and a J.D. with honors from the University of Chicago Law School, where he was awarded the John M. Olin Prize, given to the outstanding student in Law and Economics.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Industry, Other Lauren Walters-Sen, PhD, FACMG [email protected] Director, Cytogenetics Laboratory, Cincinatti Children's Hospital & Medical Center

Lauren Walters-Sen, PhD, FACMG, received her Bachelor’s degree in Molecular Genetics from The Ohio State University and her doctorate in Human Genetics from Vanderbilt University. She completed a dual Clinical Cytogenetics / Molecular Genetics fellowship at Nationwide Children’s Hospital in Columbus, OH. She was Director of Cytogenetics and Assistant Director of Molecular Genetics at the Center for Human Genetics, Inc. in Cambridge, MA, before becoming a Clinical Laboratory Director at Good Start Genetics in Cambridge, MA. She is currently a Director in the Cytogenetics Laboratory at Cincinnati Children’s Hospital & Medical Center. Her main interests involve prenatal diagnostics and collaborating with clinicians to study inherited disorders utilizing cytogenetic techniques.

Industry, Other Rebecca Iskow Torene, PhD, MMSc [email protected] Assistant Director of Genomics Research, GeneDx

Dr. Rebecca Iskow Torene is Assistant Director of Genomics Research at GeneDx, a diagnostics company specializing in rare diseases. Her research focuses on improving genetics-based diagnostics through innovative bioinformatics strategies. Previously, Dr. Torene was a Clinical Genomics Analyst at Novartis improving personalized medicine using genomic data in clinical trials. She began her training in molecular biology and, later, trained in bioinformatics, statistics, and machine-learning techniques. Dr. Torene received her PhD in genetics from Emory University and completed both her postdoctoral research and MMSc in biomedical informatics from the Harvard Medical School. She is a former member of ASHG’s Training and Development Committee and she was previously funded by the Howard Hughes Medical Institute and by a Ruth L. Kirschstein training grant. Dr. Torene currently resides in the Washington, DC area.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Public Health Sylvia Metcalfe, PhD [email protected] Group Leader, Genetics Education and Health Research and Professor in Medical Genetics, Murdoch Children's Research Institute and The University of Melbourne

Professor Sylvia Metcalfe has a biochemistry background and worked in London, New York and Melbourne in lab-based research. Since 1997 her research interests have encompassed the understanding of genetics by the community and health professionals, particularly the societal and personal implications of genetic technologies, genetic screening and testing, and the impact of genetic diagnosis. Her expertise is in mixed methods. She teaches human genetics to a range of undergraduate and postgraduate students at The University of Melbourne, and provides continuing professional development nationally and internationally. She has authored >100 peer-reviewed publications, books and book chapters, and has produced a wide range of educational materials, including multimedia and online resources. She has supervised numerous PhD, Masters and other scholars and has been involved in mentoring. She is recognised internationally for her contributions to genetics education and public health research.

Public Health Timothy Alvin Thornton, PhD [email protected] Associate Professor of Biostatistics; Director of Statistical Genetics Program, University of Washington

Dr. Timothy Thornton is the Robert W. Day Endowed Professor of Public Health and Associate Professor in the Department of Biostatistics at the University of Washington. His research lab develops and applies statistical methods and software for the analysis of large-scale genetic data to gain a better understanding of the genetic contributions to human health and diseases. His research largely focuses on genetic analyses in ancestrally diverse populations, and particularly U.S. minority populations who often bear a disproportionate burden for many diseases, including African Americans, Hispanics, and American Indian and Alaska Native populations. Dr. Thornton received a BS degree in mathematics from Hampton University and a PhD in statistics from the University of Chicago. Prior to joining the faculty at the University of Washington, he was a University of California President’s Postdoctoral Fellow in the Department of Statistics at UC Berkeley.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Genetics & Education Fellowship Carla Easter, PhD [email protected] Branch Chief, Education and Community Involvement Branch, National Human Genome Research Institute

Carla Easter is chief for the Education and Community Involvement Branch of the National Human Genome Research Institute (NHGRI). From 2003-2006, she was director of outreach for Washington University School of Medicine’s Genome Sequencing Center. Before assuming her role as outreach director, Dr. Easter was a research associate in the Department of Education at Washington University (2001-2003) where she explored the notions of science among secondary students. She served as a project associate for the Quality Education for Minorities Network (2000-2001). From 1997-2000, Dr. Easter conducted post-doctoral research at Washington University School of Medicine on the virulence factors associated with Streptococcus pyogenes. Dr. Easter earned her bachelor’s degree in Microbiology from the University of California, Los Angeles and her doctoral in Biology with an emphasis on Molecular Genetics from the University of California, San Diego.

Genetics & Education Fellowship Teresa Ramirez, PhD [email protected] Genetics and Education Fellow, The American Society of Human Genetics/National Human Genome Research Institute

Teresa Ramírez, PhD is currently the National Human Genome Research Institute/American Society of Human Genetics (NHGRI/ASHG) Genetics & Education fellow. Dr. Ramírez was a postdoctoral research fellow at the National Institutes of Alcohol Abuse and Alcoholism at the National Institutes of Health (NIH). She received her BS degree in General Biology from California State University, Dominguez Hills, in 2004, and participated in a post-baccalaureate program at the National Cancer Institute. She obtained her doctorate degree in Molecular Pharmacology and Physiology from Brown University in 2014. Her postdoctoral research focused on how aging and chronic alcohol exposure played a role in causing liver injury.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Genetics & Public Policy Fellowship Cristina Kapustij, MS [email protected] Chief, Policy and Program Analysis Branch, National Institutes of Health, National Human Genome Research Institute

Cristina Kapustij is currently the chief of the policy and program analysis branch at the National Human Genome Research Institute (NHGRI). Prior to this she was the program manager for a $5 million Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) NHGRI grant at UCSF. Before heading to California she worked on Capitol Hill as a health policy fellow during her tenure as an ASHG/NHGRI Genetics and Public Policy Fellow. She has been a Mirzayan Science and Technology Policy Fellow at the National Academies and worked as a policy analyst as Duke University’s Center for Genome Ethics, Law and Policy. Her interest in policy began in graduate school when she had the opportunity to intern in AAAS’ Science and Policy Directorate. She holds an MS in biotechnology from Georgetown University and a BS in biology as well as a BA in Russian language and civilization from Oakland University.

Genetics & Public Policy Fellowship Danielle Nichole Meadows, PhD [email protected] ASHG/NHGRI Genetics and Public Policy Fellow, The American Society of Human Genetics/National Human Genome Research Institute

Nikki Meadows is currently serving as the ASHG/NHGRI Genetics and Public Policy fellow. She earned her BSc in Biotechnology from Rochester Institute of Technology, followed by post-Bachelor’s research into the genetic basis of a corneal disease with John Gottsch at the Wilmer Eye Institute of Johns Hopkins University. She then earned her PhD in Human Genetics from McGill University in the laboratory of Rima Rozen. While at McGill, Nikki studied how genetic and nutritional perturbations in folate metabolism altered the outcome of malarial infection. Nikki also spent five years actively involved in student politics as a member of the Post Graduate Student Society of McGill University (PGSS). Upon graduation, she spent a year and a half teaching science and math to k-12 students.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Science Policy Jillian Galloway, MS [email protected] Science Policy Analyst, The American Society of Human Genetics/National Human Genome Research Institute

Jillian E. Galloway, MS is the science policy analyst at ASHG. Ms. Galloway fulfills the Society’s advocacy role by conducting analyses on policy issues affecting genetics, represents ASHG with policy-focused groups and coalitions, develops policy statements consistent with ASHG’s policy platform, and coordinates policy and advocacy-related events. Ms. Galloway received her Bachelor’s degree in Biology and German Studies from Bryn Mawr College, and a holds a Master of Science in Health Care Ethics and Policy from Creighton University School of Medicine.

Science Policy Derek T. Scholes, PhD [email protected] Director of Science Policy, The American Society of Human Genetics

Derek T. Scholes, Ph.D. is director of science policy at ASHG. Dr. Scholes serves as policy advisor to ASHG leadership, represents ASHG before Congress and the Administration, and oversees Society policy development. Dr. Scholes has over a decade’s experience in science and health policy in government and non-profits. As policy chief at the National Human Genome Research Institute (NHGRI) from 2011-2015, he led activities on the development and adoption of policies critical for genomics. Previously, he was a government affairs manager for the American Heart Association, where he advocated for legislation to advance genomic medicine and public health. He is a former ASHG/NHGRI Genetics and Public Policy Fellow, serving in the health policy office of Senator Edward M. Kennedy. Dr. Scholes holds a bachelor and doctorate degree in genetics from the University of Liverpool, U.K, and completed his postdoctoral training at the Wadsworth Center, Albany, NY.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Genetics & Public Policy Fellowship Christa Wagner, PhD [email protected] Genetics and Public Policy Fellow, The American Society of Human Genetics/National Human Genome Research Institute

Emerging health policy professional with a background in human genetics and molecular biology. My PhD in Cellular and Molecular Medicine focused on immune dysfunction that develops in rare, heritable disorders called Telomere Syndromes. Using impaired telomere maintenance as a model, we have been able to learn about immune dysfunction in normal human aging. My thesis work focused on human genetics and methods in cellular and molecular biology.

Through my laboratory work with human disease, I developed an interest in science policy especially as it relates to emerging technologies in genetics. I have deepened my policy knowledge through coursework on ethical, legal, and social implications (ELSI) of genetics policies and as a public policy fellow in Washington, DC. I am currently serving as the Genetics and Public Policy Fellow with ASHG and NHGRI to enhance my knowledge of policy making involving genetics and healthcare.

Science Writing/Editing Sara Cullinan, PhD [email protected] Deputy Editor, American Journal of Human Genetics

Sara completed her doctoral studies at the University of Pennsylvania in 2005. Following her postdoctoral work at the Whitehead Institute, Sara began her editorial career at Cell Press. She has been the Deputy Editor of AJHG since 2011. In this role Sara evaluates submitted manuscript, oversees the peer review process, helps set editorial policy, manages social media, and fosters relationships with the international human genetics community.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017

Science Writing/Editing Laura M. Zahn, PhD [email protected] Senior Editor, AAAS

Laura Zahn attended Smith College in Northampton, MA and graduated with a B.A. in Biology. Following graduation she worked on the human Genome project in Tom Stossel's lab at Harvard Medical School in Boston MA under Dr. Kwiatkowski, mapping tetranucelotide repeats on chromosome 9. She entered the Ecology and Evolutionary Biology program at the University of Arizona in Tucson, receiving her graduate degree in Ecology and Evolutionary Biology with a minor in Genetics under Drs. Margaret Kidwell and David Mount on "Population dynamics of the gynodioecious Bouteloua chondrosioides". Following the award of her Ph.D, she moved to a Post-doctoral position at Pennsylvania State University where she worked on the Floral Genome Project under Drs. Hong Ma and Claude dePamphilis. She is now a senior editor at Science magazine with primary responsibility for manuscripts in the fields of Genomics and Evolution."

Scientific Administration Renata Pellegrino, MSc, PhD Laboratory Director - Sequencing, The Children's Hospital of Philadelphia

I am currently the Sequencing Director at The Center For Applied Genomics at The Children's Hospital of Philadelphia. My research interest focuses on human genetics, specifically applied genomics, and advanced technologies. With more than 13 years of experience in genetics and genomics research, I have acquired multiple skills in different molecular biology methods and several research fields.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Scientific Administration Alexander Runko, PhD [email protected] Genomic Program Administrator, National Heart, Lung, and Blood Institute, National Institutes of Health

At the National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Dr. Alex Runko oversees the management of submissions and access to NHLBI’s genomic and phenotypic data in the NIH database of Genotypes and Phenotypes. Alex was previously employed at the DHHS Office of Research Integrity as a Scientist-Investigator, where he directed and conducted assessments of allegations and investigations of research misconduct. In that role, he developed and taught forensic and analytical tools for examining scientific data to research institutions and Federal agencies. Alex also worked at the National Institute of Neurological Disorders and Stroke, NIH, as a Health Program Specialist where he managed and conducted scientific analyses of neuroscience grant applications and portfolios. Alex’s graduate and post-doctoral research was primarily in developmental neuroscience and neurodegeneration in animal models, including zebrafish and the fruit fly.

Scientific Consulting Elaine B. Spector, PhD, FACMG [email protected] Professor of Pediatrics, Laboratory Director, Emeritus, University of Colorado School of Medicine, Children's Hospital Colorado

I have been the director of a clinical cytogenetics or clinical molecular genetics laboratory since 1985, Southern blots only when I began. I have seen the technology evolve from Southern blots only to NextGen sequencing. My knowledge base has greatly expanded to encompass regulatory issues, personnel management, project management etc. In the process I have had the opportunity to serve on the Board of Directors of the American College of Medical Genetics and Genomics and currently, on the Board of Directors of the American Board of Medical Genetics and Genomics. I have had the opportunity to contribute to the writing of many Standards and Guidelines for clinical testing including, but not limited to, Fragile X testing, Factor V and Factor II testing, and most recently the Interpretation of Sequence Variants. Lastly, I have had the opportunity to train many fellows in the field of Laboratory Genetics. I will be happy to share my experiences with current students.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Tech Transfer/IP Jeffrey L. Ihnen, JD [email protected] Partner, Rothwell, Figg, Ernst & Manbeck, pc

Jeffrey L. Ihnen has earned a BA degree in chemistry, a MS degree in biochemistry and a JD degree. He has over 40 years of experience in preparing and prosecuting patent applications in the U.S. and foreign countries in the biotechnology, chemical and plant arts. His practice focuses on a broad array of technology, including genes, gene silencing, proteins, peptide toxins, monoclonal antibodies, diagnostics, molecular biology, immunology, virology, biochemistry, pharmaceuticals, medical therapies, plants and plant biotechnology and organic chemistry. Mr. Ihnen has prepared and prosecuted patent applications for high profile genes, including the BRCA1 and BRCA2 genes. He provides counseling to clients on development and implementation of patent strategies, technology transfer, R&D agreements, infringement and validity issues and market clearance. He has experience in technology audits, due diligence analysis and preparation of infringement and freedom to operate opinions.

Undergraduate Teaching Faculty Rivka Glaser, PhD [email protected] Assistant Professor of Biology, Stevenson University

Rivka Glaser is an Assistant Professor of Biology at Stevenson University in Stevenson, Maryland. She earned her Bachelor’s degree in Biology from Goucher College and her Ph.D. in Human Genetics and Molecular Biology from the Johns Hopkins School of Medicine. She has been at Stevenson University since 2006, first as an adjunct professor for 7 years, then as a Visiting Assistant Professor for two years, and now as an Assistant Professor. Rivka has been teaching introductory biology, genetics, and molecular biology to science majors and genetics to non-majors for over ten years. Her research interests include genetics education and psychosocial ramifications of living with genetic disorders.

ASHG Career Paths in Genetics Reception Friday, October 20, 2017 Undergraduate Teaching Faculty Doug Dluzen, PhD [email protected] Assistant Professor, Morgan State University

I completed my Ph.D. in Genetics at the Pennsylvania State University and worked for over three years as a post-doctoral fellow at the National Institute on Aging, NIH. Currently, I am an Assistant Professor of Biology at Morgan State University in Baltimore, MD. I teach undergraduate and graduate biology. For my research, I study health disparities in women, focusing on cardiovascular disease with the goal of identifying additional genetic contributors influencing hypertension etiology and treatment. I also study circulating RNAs and profile their expression in the blood as we age and seek to identify age-related RNA biomarkers. I am very passionate about genetics education and career development for undergraduate students. At home, I write science fiction and fantasy stories and I like to go hiking and camping with my wife and dog.