8:00 - 9:00 a.m. | Kris Wetterstrand, M.S. Scientific Liaison to the Director for Extramural Activities Office of the Director, NHGRI | Kris Wetterstrand works in the Office of the Director as the Scientific Liaison to the Director for Extramural Activities. She has over ten years experience managing the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. |
| Donna Krasnewich, M.D., Ph.D. Program Director Division of Genetics and Developmental Biology NIGMS | Donna Krasnewich is knowledgeable in diseases resulting from inborn errors of metabolism. |
| Don Hadley, M.S., C.G.C. Investigator Social and Behavioral Research Branch NHGRI | Don Hadley is researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. |
| Phyllis Frosst, Ph.D. Director of Collaborative Operations Therapeutics for Rare nd Neglected Diseases NHGRI | Phyllis Frosst is the Director of Collaborative Operations at the NIH center for translational therapeutics. She works on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. |
| Michelle Snyder, M.S., C.G.C. Inquiry Response Manager Genetic and Rare Diseases Information Center NIH | Michelle Snyder is a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where she helps people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). |
| Emily Edelman, M.S., C.G.C. Project Director National Coalition for Health Professional Education in Genetics NHGRI | Emily Edelman is a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. She works with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. She has experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. |
9:00 - 10:00 a.m. | Pam Schwartzberg, M.D., Ph.D. Senior Investigator Genetic Disease Research Branch NHGRI | Pam Schwartzberg studies mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. |
10:00 - 11:00 a.m. | David Bodine, M.D., Ph.D. Investigator Genetics and Molecular Biology Branch Head Hematopoiesis Section NHGRI | Dave Bodine is investigating the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. He also is studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. |
| Anne Madeo, M.S. Associate Director Johns Hopkins University/NHGRI Genetic Counseling Training Program NHGRI | Anne Madeo earned her M.S. in Human Genetics at the University of Michigan and has been working at the NIH as a Genetic Counselor since 2000. She is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. |
| Vence Bonham, J.D. Chief Education and Community Involvement Branch Office of the Director Associate Investigator Social Behavioral Research Branch NHGRI | Vence Bonham researches the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. |
| Dani Bishay, M.S., C.G.C. Genetic Counselor Nebraska Medical Center | Dani Bishay works in a comprehensive genetics department where she sees patients in a pediatric and prenatal setting. She also helps interpret abnormal genetic results in a laboratory setting. |
| Erica Hirsch, B.A., M.S. Genetic Counselor Genetic and Rare Disease Information Center NIH | Erica Hirsh started her career working in a biochemical genetics laboratory in New Orleans, Louisana where she gained knowledge of metabolic disorders. She then attended Mt. Sinai School of Medicine in New York, where she earned her Masters in Genetic Counseling. She worked as a prenatal genetic counselor for a few years helping couples whose pregnancies were considered to be high risk. . |
| Kelle Steenblock,M.S., C.G.C. Senior Vice President Informed Medical Decisions | As the Senior Vice President of clinical services at Informed Medical Decisions, Kelle Steenblock oversaw 5 teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. She also provides telephone clinical genetic counseling for both reproductive and cancer genetics. |
| Lauren Doyle, M.S., C.G.C. Genetic Couselor Baltimore, Md. | Lauren Doyle is currently split between prenatal (clinical and research), neurology and cancer clinics, so she sees a broad base of patients on a weekly basis. In addition, she has completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals . |
| Bruce Korf, M.D., Ph.D. Professor and Chairman, Department of Genetics University of Alabama Birmingham | Bruce Korf is a medical geneticist and serves as chair of the Department of Genetics at the University of Alabama Birmingham. His major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. He is also involved in initiatives to integrate genetics and genomics into medicine |
11:00 a.m. - Noon | Mike Dougherty, B.A., Ph.D. Director of Education American Society for Human Genetics | Mike Dougherty directs educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, he taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. |
| Lucia Hindorff, Ph.D., M.P.H. Epidemiologist Office of Population Genomics Office of the Director NHGRI | Lucia Hindorff is working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. She hopes to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. She is also one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. |
Noon - 1:00 p.m. | Belen Hurle, Ph.D Research Fellow Genome Technology Branch Program Director Intramural Training Office NHGRI | The focus of Belen Hurle's research is the study of primate genomes as a means to enhance our understanding of human evolutionary biology. . |
| Flavia Facio, M.S., C.G.C. Lead Associate investigator, ClinSeq Genetic Disease Research Branch Division of Intramural Research NHGRI | Flavia Malheiro Facio, M.S., C.G.C. is a genetic counselor at the National Human Genome Research Institute in Bethesda, Md. She is the lead associate investigator for the ClinSeqTM project - a pilot study aimed at investigating the feasibility of utilizing large-scale medical sequencing to find and return genetic variants of clinical significance to individual participants. |
| Shannon Kieran, M.S., C.G.C. Genomic Services Manager Forest City, Calif. | As a laboratory genetic counselor, Shannon Kieran specializes in genome wide scan result interpretation and health care provider education. |
| Robin Troxell, B.S., M.S. Springfield, Mo. | Robin Troxell is a pediatric and prenatal genetic counselor. She has a special interest in perinatal hospice. |
| Amy Gaviglio, M.S., C.G.C. Genetic Counselor, Supervisor Minnesota Department of Health | Amy Gaviglio is a genetic counselor at the Minnesota Department of Health. She works in the newborn screening program and is involved in education surrounding public health genetics and ethics. |
| Angela Filose Genetic Counselor Woodland Hills, Calif. | Angela Filose is a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. She helps to gather family history information, explain test results and guide families when a diagnosis is made when a diagnosis is made. |
| Toni I. Pollin, M.S., Ph.D. Assistant Professor University of Maryland School of Medicine. | Toni Pollin does research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. She also co-directs a Ph.D. and master's training program in human genetics. |
1:00 - 2 p.m. | Arjun Prasad, Ph.D. Post-doctoral Fellow NIH Intramural Sequencing Center NHGRI | Arjun Prasad is a post-doctoral Fellow working in bioinformatics at NHGRI, and he is interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. |
| Daniel Kastner, M.D., Ph.D. Scientific Directer Division of Intramural Research NHGRI | Dr. Kastner is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology and treatment of inherited disorders of inflammation. He has discovered disease genes that have led to life-changing treatments for patients. |
| Leslie G. Biesecker, Ph.D. Senior Investigator Genetic Disease Research Branch Head Human Development Section NHGRI | Leslie G. Biesecker directs a clinical and molecular genetic research program of inherited diseases. |
| Heather Junkins, M.S. Scientific Program Analyst Office of Population Genomics Office of the Director NHGRI | Heather Junkins works in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies. Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants. She is also the curator of the NHGRI GWAS Catalog. |
2:00 - 3:00 p.m. | Jennifer Sloan, M.S., Ph.D., C.G.C. Genetics Counselor Genetic Disease Research Branch Division of Intramural Research NHGRI | Jennifer Sloan provides genetic counseling for patients with a metabolic condition called methylmalonic acidemia enrolled in a research study at the National Institues of Health. |
| Heather Junkins, M.S. Scientific Program Analyst Office of Population Genomics Office of the Director NHGRI | Heather Junkins works in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies. Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants. She is also the curator of the NHGRI GWAS Catalog. |
| Eric Green, M.D., Ph.D. Director National Human Genome Research Institute NHGRI | Eric D. Green is the Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) in Bethesda, Maryland, a position he had held since late 2009. NHGRI is the largest organization in the world solely dedicated to genomics research. Previously, Dr. Green was the NHGRI Scientific Director, Chief of the NHGRI Genome Technology Branch, and Director of the NIH Intramural Sequencing Center. Since the early 1990s, Dr. Green has been extensively involved in efforts to map, sequence, and understand eukaryotic genomes. His work included significant, start-to-finish involvement in the Human Genome Project, and more recently focused on utilizing large-scale DNA sequencing to address important problems in genomics, genetics, and biomedicine. . |
| Jeffrey Ohmen, Ph.D. Genomics Coordinator House Ear Instiute | In his current position, Jeffrey Ohman is responsible for the design, implementation and execution for all genetic studies at the House Ear Institute. . |
| Amber Trevedi, M.S. Senior Vice President, Provider & Client Services Informed Medical Decisions | Amber Trivedi is a cancer and reproductive genetic counselor. In addition to providing clinical care, she leads InformedDNA's programs to educate other health care providers, clients, and the lay population about the significance of clinical genetics. |
| Kelly C. Donohue, M.S. Genetic Counselor Allegheny General Hospital | Kelly Donahue is a genetic counselor in the Maternal Fetal Medicine Department. She meets with women/couples that are planning to have children or who are already pregnant and have concerns that their baby may have a birth defect or genetic problem. She helps them learn about genetics and testing options that can tell them more information about their babies. |
| Courtney Nichols, M.Sc., Sc.M. Genetic Counselor Johns Hopkins University | Courtney Nichols is a genetic counselor who coordinates research studies that for the genes causing complex genetic diseases such as Hirschsprung disease, autism, and hypertension. She recruits and enrolls participants into studies for the laboratory. She also talks with study participants and others about the genetics of these diseases and goals of the laboratory's research. |
3:00 - 4:00 p.m. | Anna Rossoshek, M.S., M.B.A. Scientific Administrative Analyst Division of Intramural Research NHGRI | Anna Rossoshek's duties require her to be very familiar with the entire Extramural grants portfolio. She often does a variety of portfolio analysis projects as part of her routine responsibilities. She is responsible for the Institute's R13 conference grant portfolio, in addition to being an active member of the Knockout Mouse Project program and GTEx program. She has many administrative responsibilities, including but not limited to conference/workshop event planning, negotiating contracts, budgeting, acting as the liaison for a variety of requests from the Office of the Director including budget and policy requests, as well as being the point of contact and recruiter for all program analyst contractors in the office. Her scientific background makes her proficient in mouse genetics and genomics, and her business background makes her skillful in administrative subject matter. |
| Shawn Burgess, Ph.D. Senior Investigator Genome Technology Branch Head Developmental Genomics Section NHGRI | Shawn Burgess is studying developmental processes and their relation to human genetic disease. |
| Laura Lyman Rodriguez, Ph.D. Director Office of Policy, Communications and Education Office of the Director NHGRI | Laura Lyman Rodriguez is the Director for the Office of Policy, Communications, and Education at the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). She works to develop and implement policy for research initiatives at the NHGRI, design communication and outreach strategies to engage the public in genomic science, and prepare health care professionals for the integration of genomic medicine into clinical care. Laura is particularly interested in the policy and ethics questions related to the inclusion of human research participants in genomics and genetics research and sharing human genomic data through broadly used research resources (e.g., databases). |
4:00 - 5:00 p.m. | Larry Brody, M.D., Ph.D. Chief & Senior Investigator Genome Technology Branch Head Molecular Pathogenesis Section NHGRI | Larry Brody's lab investigates the connection between genetics and diseases related to birth defects and cancer. |
| Eleonora Goldberg, Ph.D. Medical Science Liaison | Eleonora Goldberg is medical science liaison. She works to build relationships with leaders in their respective therapeutic areas by providing educational information and offering support for research and clinical trials. She is involved with advisory boards, speaker bureaus, and make scientific presentations to health care practitioners. |
| Lois Lander, M.S. Senior Information Specialist Genetic and Rare Disease Information Center NIH | Lois provides information and resources to individuals contacting the Genetic and Rare Diseases Information Center. She creates web content for rare and genetic diseases and create fact sheets dealing with multiple topics related to the field of genetics. |
| Tracy Futch, Ph.D., M.S., C.G.G. Senior Genetic Counselor DNA Direct | Tracy Futch is a genetic counselor working at DNA Direct in San Francisco. She provides genetic counseling as well as guidance and decision support for genomic medicine to patients, providers, and payors. |
| Brandon Colby, M.D., M.B.A. CEO & Medical Director Existence Genetis | Brandon Colby, MD is the author of the new book Outsmart Your Genes, the definitive layperson's guide to genetic testing and predictive medicine. He is also the founder and CEO/Medical Director of Existence Genetics, a groundbreaking company that provides healthcare professionals and health & wellness organizations with access to comprehensive, affordable, and straightforward genetic testing services. If you're interested in learning about and discussing recent advancements with predictive medicine and the genetic revolution, join Dr. Colby's Facebook community at: www.facebook.com/brandoncolbymd. |
| Melanie Hardy, M.S. Student Univerisity of North Carolina at Greensboro | Melanie Hardy is a second-year student at the University of North Carolina at Greensboro genetic counseling program and co-leader of the Outreach Task Force (OTF) within the Student/New Member SIG in NSGC. The goal of the OTF is to help educate students about the field of genetic counseling, so I hope to provide information for those interested |
| Jessica Sawkins, M.S. Genetic Counselor Genetics Department Kaiser Permanente | Jessica Sawkins is a clinical genetic counselor working in a general genetics clinic. She provides genetics evaluation and assessment for patients in prenatal, pediatric, cancer, and general genetics. She has a special interest in cancer genetics and am involved in teaching classes regarding inherited cancer syndromes to patients, participation in high risk clinics for patients with a known inherited susceptibility to cancer, and individual evaluation for patients with a family history of cancer. |