Idea Transcript
Department of
Human Genetics
CYTOGENETICS
RESIDENT
MEDICAL CENTER
PHARMACEUTICAL
CANCER GENETICS
Spotlight on Alumni Careers
POSTDOC LAB DIRECTOR
PEDIATRIC GENETICS
RESEARCH FACULTY
RESEARCH UNIVERSITY
SCIENTIFIC WRITING
BIOTECH MEDICAL SPECIALIST
GENETIC TESTING PHYSICIAN
GOVERNMENT
GENETIC COUNSELOR
RESEARCH INSTITUTE
ALUMNI CAREERS
TEACHING UNIVERSITY 2015 Annual Newsletter
INSIDE Letter from the Chair Spotlight Faculty Update
Graduate Education Departmental Events Donors
Letter From Our Chair One of our most important missions is training the next generation of scientists, teachers, physicians, and health care professionals. It is exciting to watch them develop during their time with us in the Department of Human Genetics, gratifying when they identify jobs in their chosen field, and a source of tremendous pride as their careers develop successfully and they become leaders.There is currently a lot of discussion about the number of trainees needed in various areas of biomedical science. In fact, University of Michigan recently hosted a national meeting to bring together thought leaders across the country to address this and other questions pertinent to the future of biomedical science graduate and postdoctoral training. We recently reviewed the past 10 years of placement history for Department of Human Genetics MS and PhD graduates, postdoctoral fellows and Research Investigators. I am impressed with their successes, which provide a testament to the quality of individuals we attract and the efficacy of our training programs. It is also noteworthy that our alums have chosen diverse career paths and are thriving. Faculty are adept at assisting trainees who are preparing for careers in settings like University of Michigan, but they may not have the connections or appropriate information to help trainees land jobs in other important areas of biomedicine. We are lucky to have a rich alumni network that can fill this gap. I hope you will “like” us on Facebook, connect with us on Linkedin, and make yourselves available to our current and future trainees for mentorship and career advice. Two of our current PhD students, Christina Vallianatos and Irene Park, recently interviewed alums of our programs who represent a variety of professions. Read about their results in our feature article: “Spotlight on Alumni Careers”. With best regards,
Sally A. Camper, Ph.D.
American Society of Human Genetics Annual Meeting The Department of Human Genetics hosted an alumni gathering at the Hilton Baltimore Hotel on Wednesday, October 7, 2015 during the Annual American Society of Human Genetics meeting in Baltimore, MD. The venue was lovely and the food included fruits de mer characteristic of the Cheasapeake Bay. The event was attended by alumni spanning nearly fifty years of history in the department. In addition to alumni, we welcomed international collaborators and colleagues from the Department of Biostatistics in the School of Public Health and the Department of Computational Medicine and Bioinformatics. It was wonderful to be able to reconnect with our trainees and friends of the department. The next ASHG Annual meeting will be held October 18-22 in Vancouver, Canada. Tony Antonellis is the Chair of the Program Committee. We hope to see you at the meeting and the alumni gathering next year!
Valerie Schaibley, Kaanan Shah and Sally Camper
1 • Department of Human Genetics 2015 Newsletter
Nikki Ledbetter, David Ledbetter, Sebastian Zöllner, Laura Scott and Miriam Meisler
Spotlight on Alumni Careers Oh, the places you’ll go! Career paths of DHG alumni By Irene Park & Christina Vallianatos The Department of Human Genetics has a rich history of successfully training the next generation of human geneticists. Our graduates pursue and hold positions in a variety of areas, including academia, industry, government, clinics, and writing. We touched base with some alumni to learn more about their career trajectories, advice for current students, and fondest memories about the Department and Ann Arbor.
Academia & Medicine Clement Chow (PhD, 2008) began as an Assistant Professor in the Department of Human Genetics at the University of Utah this fall. Clement’s thesis work “Mutations in PI (3,5) P2 Signaling and Neurodegeneration in Mouse and Human” was guided by Miriam Meisler and published in Nature. His postdoctoral work was with Andy Clark and Mariana Wolfner at Cornell University, and it focused on quantifying male-female interactions in Drosophila. Clement cited his three advisors as his inspirations. “All three of my mentors are very different, … they have inspired me in different ways,” Clement said. “One common way they have really inspired me is their ability to run with a question that is not immediately a ‘home run.’ In many cases, these new questions were unfamiliar to them, but they almost always paid off.” Clement said he is driven to do research by the thrill of seeing a phenomenon that no one else has documented before. He also believes that research will eventually lead to applications that are useful for patients. “Some of the most motivating questions and moments are when we realize that our work might be useful to patients,” Clement said. He did note that pursuing a career in academia is challenging, and recommended that students explore their career options early, especially because a tenure track job is not the default choice for PhD degree holders. Clement emphasized taking advantage of the resources offered by professional organizations (e.g. ASHG), having backup plans, and “having fun” with whichever path they choose.
Anne Casper (PhD, 2005) epitomizes the passionate, successful researcher and teacher. She was selected by the faculty to deliver a distinguished alumni seminar on her work on genome instability in yeast entitled, “Energy, Enthusiasm and Excellence: Research with Undergraduates at EMU”, which took place in May 2015. Anne is an Associate Professor in the Biology Department at Eastern Michigan University (EMU) and is devoted to both research and education. She teaches both introductory-level and upper-level biology classes, while simultaneously directing NIH-funded research focused on genome instability using yeast as a model organism. EMU does not award PhD degrees, so most of her lab members are either undergraduate or masters students. Anne received her PhD in 2005 for her thesis work on mechanisms of common fragile site formation in Thomas Glover’s lab. This work was published in Cell. Her work was supported by both the Michigan Predoctoral Training Program in Genetics and an NSF Predoctoral Fellowship. Subsequently Anne was awarded a SPIRE (Seeding Postdoctoral Innovators in Research & Education) fellowship, a program that entails two years of postdoctoral research and one year of teaching at a university serving under-represented minorities. She completed her postdoctoral training with Thomas Petes at Duke University, and taught at Shaw University before starting her job at EMU. Anne credits both her teaching and research experiences for landing her current job.The most competitive candidates have sought opportunities to serve as instructors and demonstrate their expertise as educators and researchers. For trainees interested in teaching careers, Anne suggests exploring programs that Department of Human Genetics 2015 Newsletter • 2
combine research and teaching, much like the SPIRE fellowship program or the IRACDA (Institutional Research and Academic Career Development Awards) awarded by the NIH. Anne enjoys working closely with undergraduate students and mentoring their development as scientists. “One of the best parts of my job is the variety. I am able to focus on teaching during the academic semesters and focus on research during the summer.” She recently received national accolades when the Council on Undergraduate Research (CUR) biology division selected her for an Honorable Mention for superior mentorship of undergraduate students in research. “Thanks to everyone in the HG department at U-M for the excellent foundation and mentorship! I enjoy opportunities to pay it forward.” Gail Jarvik (MD, PhD, 1986) is amazed at how the field of genetics has taken off in the last few decades. “What we can do for families now is light-years different than what we could do before.” As the Arno Motulsky Endowed Chair in Medicine, Professor, and Head of the Division of Medical Genetics at the University of Washington, Gail sees both sides of the “bench to bedside” paradigm. In her own lab, Gail combines wet and dry lab techniques to ask questions about the genetic basis of complex disease. Indeed, since her PhD training with Charlie Sing, inherited genetic disease has been a major focus of her research. Her thesis involved studying genes influencing levels of apolipoprotein B, a “I work with a lot of smart people and I learn things all the time.” determinant of LDL cholesterol and heart disease, which is the number one cause of death in the developed world. “I still work on Apo B today! My PhD provided me a good education on complex disease.” Gail’s knowledge of genetic disease extends from the lab and into the clinic. Her division is in charge of the University of Washington Medical Center’s Genetic Medicine Clinic, devoted to adult genetic diagnoses such as cardiovascular, collagen, and neurogenetics disorders. “We have a large, diverse clinical group which really allows us to learn from each other.” Most faculty hold PhDs, many of whom are also board certified in molecular medicine or molecular pathology. “It gives them the opportunity to get into the clinic, to give them perspective.” Gail sees science becoming less of a solo endeavor and much more of a team sport. “Science is moving in a very collaborative direction, especially for translational health problems.” She is currently a Principal Investigator on the Clinical Sequencing Exploratory Research Consortium, supported by the National Human Genome Research Institute and National Cancer Institute. “In your own research, you direct what you’re doing. In consortia, you have common goals that require coordination. You get to work with many talented people even more closely than you would otherwise, and it’s been really rewarding.” Gail cites her patients as a major driving force in her research. “My patients really inspire me. They’re dealing with difficult things in their lives, but you can see genetics making a real difference.” For today’s students, she recommends to learn from smart people and keep learning. “Brush up on your programming skills. It’s essential.”
Industry Matthew Nelson (MS, PhD, 1999) did his thesis work with Charlie Sing on developing novel statistical methods on identifying gene-gene interaction. He currently leads the genetics group at GlaxoSmithKline (GSK), strategizing in pharmacogenetics and using disease genetics for drug discovery. Since he was very interested in using his PhD degree in Human Genetics and MS degree in Statistics for practical applications, Matthew ventured into industry jobs after graduation. His first job was at a small start-up company in Ann Arbor. He then became the Director of Statistics at Sequenom, a medium-sized company, before becoming a staff scientist at GSK. Matthew went through a series of promotions: manager, director, head of Statistical Genetics, and head of Genetics. Matthew listed several differences between working at a university and at a company. In industry, employees need to understand the business model and their own abilities. Employees also need to find where their scientific curiosity and the needs of the company overlap, so it is important for employees to be flexible and to work well in a team. “You need to find the intersection between [your] curiosity and the needs of 3 • Department of Human Genetics 2015 Newsletter
the organization. You also need to be flexible to work well with other people at the company.” Matthew suggested that students and trainees interested in pursuing industry jobs should get first-hand experience working in industry. He also emphasized the importance of the department alumni database. Many Alumni are committed to helping the current students and trainees. Barry Tong (MS, MPH, 2010) doesn’t have co-workers or an in-office dynamic, at least not in the traditional sense. “I’m about 60% travel, 40% office.” Barry is a Certified Genetic Counselor and Institutional Product Specialist at Myriad Genetic Laboratories in Austin, Texas. As such, he caters to small clinics, universities, and hospitals, providing educational support and resources to those that use genetic testing services. Myriad is a clinical diagnostic laboratory, primarily providing hereditary cancer clinical genetic testing. Clinicians from all over the US send samples to Myriad, looking for interpretations and results. “There are around 80-90 genetic counselors (GCs) that work in every capacity, from sales reps to directors to internal labs.”These GCs reside around the country, and their clients are healthcare providers. “We provide education for referrals for genetic counseling and testing, and interpret results.” As of July 2015, Barry has transitioned to work only with academic centers. “Now I work with cancer GCs in Texas at big universities, addressing needs and motivating changes to happen in lab that are usable in the clinical setting.” Working remotely translates to a lot of webinars and e-meetings. “You have to really motivate yourself to engage and speak up. You don’t have the visual cues of a typical meeting, so it takes some adapting.” Barry places a lot of value on his genetic counseling education at U of M. Since the Genetic Counseling Master’s program is based in the Human Genetics Department and integrated with the PhD program, counseling students benefit from a rigorous, didactic basic science education in human genetics. “Knowing about the specific science means you can be a clinical and lab expert. I have a leg up, even compared to very experienced GCs.” Barry completed the dual Genetic Counseling/Master’s in Public Health degree, and says having that third year helped him refine what he wanted to do for his career. “Knowing what type of work setting you want to be in really helps.” While he gets the opportunity to travel for work, sometimes Barry wishes his work took him a little further north every now and then. “I really miss Zingerman’s. I’m a total foodie, and I would come back to Ann Arbor just to eat there!”
Government Amy Gaviglio (MS, 2007) didn’t hesitate to take initiative when searching for a job. “I cold-called the Minnesota Department of Health and came in for a visit over the Thanksgiving holiday. Little did I know, they were opening up a position, and the rest is history!” Her determination paid off, and Amy was able to land a job that combined her genetic counseling skills and strong interest in public health. As a Certified Genetic Counselor for the Minnesota Department of Health, Amy supervises follow-ups for the Newborn Screening Program. This life-saving screening program aims to test all infants born in the state of Minnesota for over 50 rare disorders, with the goals of more rapid diagnoses and early intervention. Amy also aids in education, policy, and process development in public health genetics at the local and national level. “I love making a difference at the population level, I love the variety.” Amy was inspired to go into Public Health during her time at Michigan, after attending lectures from prominent faculty such as Toby Jayaratne and Sharon Kardia. “If I were back in school now, I would do the dual genetic counseling/MPH degree.” Involvement in organizations such as the March of Dimes, Genetic Alliance, and Association of Public Health Labs help to give valuable experience to those interested in pursuing a line of work similar to Amy’s. “Make connections! Enjoy your time in the DHG, meet new people, and push yourself. Go Blue!!”
Department of Human Genetics 2015 Newsletter • 4
Clinical
Science writing and communication
Since receiving her undergraduate degree in Diagnostic Molecular Science from Michigan State University, Heather McLaughlin (PhD, 2012) has been on a career path towards clinical diagnostics. Her PhD thesis research (“Genetic and Functional Evaluation of Aminoacyl-tRNA Synthetase Mutations in Patients with Peripheral Neuropathy”) with Tony Antonellis helped her build a solid molecular genetics foundation while maintaining a clinical connection. “I knew I wanted to do a Clinical Molecular Genetics fellowship when I was finished with grad school. It has been a great career decision for me because it’s scientifically stimulating, yet I don’t need to worry about grant funding.” Heather is a Senior Clinical Scientist at GeneDx, evaluating clinical exome sequencing data to identify disease–causing variants in patients with suspected genetic disorders. “Often these patients have exhausted all other clinical testing options, so exome is their last hope.”
Even during her time as a graduate student, Valerie Schaibley (PhD, 2013) has enjoyed science communication. She has been and is inspired by “really good science writing, reading a well-written pop-science article, science blog post, or peerreviewed paper” to become a better writer and communicator. Valerie did her thesis work with Jun Li on characterizing mutation patterns in the human genome and how the patterns are influenced by recombination rate and GC content. She currently works as a geneticist and genetic counselor coordinator for ActX, a small start-up company that focuses on providing personalized medicine based on the patient’s genomic data. A large part of her job entails writing to communicate genetic test results with patients. Since last year, she also has been working as a managing editor to supervise other writers. How Valerie found her current job is a bit unusual. She found out about her job through a job posting on LinkedIn rather than through networking with people in the field of science writing. Although Valerie recognized that networking is important, she also said that “networking isn’t the only way to find jobs” and “students should follow all possible paths”. Valerie reminisced about the numerous thesis defenses she attended as some of her favorite times in the department. “I remember when I was just starting out in the department, watching some of the older students defend,” Valerie said. “I was so impressed, and, to be honest, completely intimidated. The farther along I got in my PhD, the more exciting thesis defenses became until I was in the audience watching my close friends defend. It was always fun to see all of the hard work come together in the end.” Valerie mentioned that the department tradition of whirlyball games during recruitment weekend was a favorite memory of hers.
To get to her current position, Heather first completed a Clinical Molecular Genetics fellowship, an accredited training program from the American Board of Medical Genetics and Genomics. After her fellowship at Harvard University, she worked in a clinical laboratory for a year. “The hours were long and it was very difficult to maintain a work-life balance while juggling my clinical and academic responsibilities.” Her recent decision to join GeneDx has provided her a much more patient-focused role. “It has really allowed me to have a broader impact on patient care.” Clinical laboratory experience has also been invaluable to her in her career trajectory. “The field is growing very rapidly but fellowship positions are hard to secure, and having adequate experience really helps you to get your foot in the door.” Her words of wisdom to current trainees are simple: do what makes you happy. “Don’t be afraid to explore alternate career paths. There are so many wonderful opportunities out there that don’t fit the dogma of grad school, post-doc, PI.”
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Irene and Christina would like to thank all the DHG alumni for their time, willingness, and enthusiasm during the interview process. For a complete database of our alumni, please visit http://hg.med.umich.edu/alumni.
Graduate Education
The Human Genetics graduate program enthusiastically welcomes the new genetic counseling, HG masters and PhD students and congratulates all of the graduates who completed their degrees in 2014-2015. This was an outstanding year of achievement for our students, who published impactful papers, participated in important work in developing countries and received fellowships and awards. It was also a year filled with engaging scholarly events, such as the Neel Symposium and Gelehrter Lectureship, as well as fun social gatherings, including student organized events involving our genetic counseling, HG masters and PhD students, weekly Happy Hours and a graduation celebration. We are excited to learn what the new academic year holds for the graduate programs and our students!
New Students PhD Program in Human Genetics
Master’s Program in Genetic Counseling
Alexandre Daly, University of Nebraska, Lincoln, NE (Camper Lab) Owen Funk, Bates College, Lewiston, ME (Kwan Lab) Alyssa Kruger, University of Wisconsin Eau Claire, WI (Mueller Lab) Sierra Nishizaki, San Francisco State University, CA (Boyle Lab) Robert Porter, Northwestern University, Evanston, IL (MSTP) Arushi Varshney, Indian Institute of Technology Guwahati, Assam, India; Ecole Polytech Fed Lausanne, Switzerland (Parker Lab)
Christopher Deffer, University of Iowa, Iowa City, IA Sarah Drewes, University of Wisconsin, Madison, WI Tessa Marzulla, Lewis & Clark College, Portland, OR Sarah Mazzola, Ohio State University, Columbus, OH Kelly Watkins, Connecticut College, New London, CT Beatrix Pui Ying Wong, University of Toronto, Toronto, ON, Canada
Master’s Program in Human Genetics
Dual degree Master’s Program in Genetic Counseling and Health Behavior & Health Education
Jean Crilly, University of California Davis, CA Miranda Rogers, Michigan State University, MI Jennifer Schwank, University of Michigan, MI
Jamie Love-Nichols, Tufts University, Medford, MA
Introducing New Postdoctoral Fellows Christopher Green, PhD (Hammoud Lab) is a native of Indiana. He received his BS from Purdue University and then went on to complete his PhD at Michigan State University with L. Karl Olson on pancreatic beta-cell fatty acid metabolism and modulation of function in response to glucolipotoxicity. Chris then did a postdoc in the laboratory of Jing-Dong Jackie Han at the Chinese Academy of Science in the Max Planck Partner Institute for Computational Biology, Shanghai, China. In the Hammoud lab he will be applying his research experience in epigenetics to further understand the mechanisms of transcriptional regulation during gametogenesis. Yasuhiro Kyona (Yoshi), PhD (Kitzman and Parker Labs) was born in Kyoto, Japan and moved to Seattle when he was 15. He received a BS in Neurobiology and Psychology from the University of Washington in Seattle. In April, he defended his PhD in the Neuroscience Program at the University of Michigan in the laboratory of Bob Denver on the role of thyroid hormone (T3) receptors in modulating DNA methylation and gene expression in the developing Xenopus tadpole brain during metamorphosis. In the Kitzman and Parker laboratories, he will conduct interdisciplinary research to investigate the mechanisms by which sequence variations within enhancers contribute to disease risk for type 2 diabetes (T2D). John Moldovan, PhD (Moran Lab) John received his BA in Biology from Kalamazoo College, MI. After graduation, as a research assistant for Dr. Denis Callewaert at Oakland University in Rochester, MI, he studied the effects of glucocorticoids on human natural killer cells. John was an officer in the US Air Force and was stationed in Alaska where he flew on a variety of missions including delivering humanitarian aid to Vietnam and East Timor. He earned an M.S. in basic medical science conducting research on xenotropic murine leukemia virus in Dr. Thomas Holland’s lab at Wayne State University in Detroit, MI. John earned a PhD in Cellular and Molecular Biology studying human LINE-1 retrotransposons in Dr. John V. Moran’s lab, where he continues as a postdoctoral fellow. His research focuses on the mechanism of regulating retrotransposition and the role of host factors in this process.
Department of Human Genetics 2015 Newsletter • 6
Recent Graduates
Congratulations to graduates in the Department of Human Genetics for completing their programs and moving forward in their careers:
Ph.D. Program Amelia Alessi, PhD (Kim Lab) “Regulation of the microRNA-Induced Silencing Complex in C. elegans”. Amelia moved with the Kim lab to Johns Hopkins University, where she will continue her work as a post-doc.
Allison Richards, PhD (Cheung Lab) “Cis Regulation of RNA Editing in Human”. Allison is now a postdoc in Dr. Francesca Luca’s lab, Center for Molecular Medicine and Genetics, Wayne State University.
Jacob Higgins, PhD (Robins Lab) “ContextDependent Interaction of the Androgen Receptor with Oncogenic Pathways Common to Prostate Cancer”. Jacob is currently seeking a position at a biotech company or non-profit research institute in the Seattle area.
Danny Yang, PhD (Kim Lab) “RNA- and Chromatin-binding Proteins in Small RNAmediated Gene Silencing”. Danny returned to medical school to complete his medical training.
Human Genetics Master’s Program Rakhee Bajaj, MS, Rakhee is continuing as a Research Associate in the Glover Lab.
Yan-Cheng Chao, MS, is continuing his education – currently enrolled in the Biostatistics Master’s Program at the University of Michigan.
Alexander Katz, MS, Clinical Genetics Fellow at the National Human Genome Research Institute (Medical Genetics branch) in Bethesda.
Genetic Counseling Program Caitlin Hale, MSGC, Atypical phenotypes associated with CHD7 mutations and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Hale CL, Green GE, Martin DM. Caitlin is now at Stanford University, Stanford, California. Michelle Jacobs, MSGC, Ophthalmologists’ perspectives on and utilization of genetic testing. M. Jacobs, B. M. Yashar, W. Uhlmann, K. Branham. Michelle is now working at the University of Michigan Health System, Ann Arbor, Michigan. Katlyn Partynski, MSGC, Paternal adaptation to a child’s diagnosis of fragile X syndrome: Predictors of individual and family well-being. K. Partynski, B. M. Yashar, K. Owens, A. Giordimaina, J. Sheldon. Katlyn is now at Children’s Hospital of Orange County, Orange, California.
Kyle Salsbery. MSGC, Roles for religion and spirituality in genetic counseling. K. Salsbery, W. Uhlmann, B. Yashar. Kyle is now at the Marshfield Clinic, Marshfield, Wisconsin. Alex Marie Yragui, MSGC, Assessing current practices in prenatal genetic counseling regarding a prenatal diagnosis of Down syndrome. Phase II: What does client-centered counseling look like in practice? A. Yragui, M. Marvin, E. Moe, K. Berrier, B. M. Easier. Alex is now working at Perinatal Associates of New Mexico, Santa Fe, New Mexico.
Human Genetics Student Awards Diane Flasch - Rackham Summer Award, 2015 James V. Neel Fellowship William Giblin - Biomedical Research Training in the Biology of Aging Training Grant Michael Hinten - Reproductive Sciences Program (RSP) Career Training in Reproductive Biology (CTRB) Fellowship Jason Keil - Autism Science Foundation Predoctoral Fellowship; 2015 Rackham Graduate Student Research Grant Killeen Kirkconnell - Predoctoral Genetics Training Program Peter Larson - Predoctoral Genetics Training Program; 2015 Rackham Summer Award William Law – Rackham Research Grant
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Sierra Nishizaki – Honorable Mention, NSF Graduate Research Fellowship So Hae (Irene) Park – Predoctoral Genetics Training Program Yu-yu Ren - Best Poster Prize (Sponsored by Faculty 1000), Rat Genomics and Models, Wellcome Trust Conference, Cambridge, UK Allison Richards - Genome Science Training Program Ethan Sperry - International Mammalian Genome Society Student Scholarship; 2015 Sandra Davenport CHARGE Syndrome Fellowship Kärt Tomberg - Endowment for the Basic Sciences 2015 EDGE Award Christina Vallianatos - Rackham Graduate Student Research Grant Yifan Wang – Rackham International Student Fellowship Danny Yang – Reproductive Sciences Training Program
James V. Neel Graduate Fellowship The James V. Neel Graduate Fellowship Awards recognize outstanding academic and research achievements of human genetics graduate students pursuing PhD degrees and M.S. degrees in genetic counseling. This year’s recipients were Diane Flasch and Samantha Greenberg. Diane Flasch graduated Summa Cum Laude Loyola University of Chicago with her BS degree in Chemistry with honors, and minors in Mathematics and Statistical Analysis. She joined the Human Genetics PhD program in 2010 and has conducted her research under the mentorships of Drs. John Moran and Tom Wilson. Diane is concurrently earning her Master’s of Science degree in Statistics. Diane’s dissertation research is focused on determining whether the LINE-1 retrotransposon integrates at preferred sites in the human genome. Because LINE-1 insertions are responsible for spontaneous disease producing mutations, her genome-wide analyses will provide significant insights into the contribution of LINE-1 to disease and genome instability.
Samantha Greenberg earned her BS in Neuroscience from the University of Michigan, Ann Arbor. She is enrolled in the dual degree program, working towards her M.S. in Genetic Counseling and M.P.H. in Health Behavior and Health Education. By pursuing dual degrees in Genetic Counseling and Public Health, Samantha is working toward her goal of improving the access of genetics and genomics advances to all individuals. Samantha’s thesis research evaluates the efforts of Planned Parenthood of Michigan to increase awareness of and access to cancer genetic counseling services through a community-based high-risk cancer screening program. Studying this particular patient population has the potential to lead to identification of unique barriers that occur in a community setting and the development of targeted interventions to improve utilization of genetic services by underserved populations.
George and Lucia Brewer Research Fellowship A generous gift by Dr. George J. and Mrs. Lucia F. Brewer established a fellowship to recognize and encourage physician scientist trainees pursuing dual training in medicine and research. The inauguration of this fellowship was celebrated on November 7, 2014. Dr. Brewer delivered the keynote address entitled, “The critical role of the physician-scientist in translational research and biomedical entrepreneurship” at the BSRB Kahn Auditorium. Dr. Brewer is best known for his work on Wilson’s disease, a genetic disorder than can cause toxic accumulation of copper, and has devoted himself to developing increasingly effective, FDA-approved treatments for this and other ‘orphan’ diseases. In May, 2015, Laurie Griffin was named as the first Brewer Research Scholarship recipient. She graduated from Middlebury College Cum Laude with High Honors with a BA in Molecular Biology and Biochemistry. She is currently working toward her MD, PhD degree in the University of Michigan Medical Scientist Training Program. Laurie is performing her dissertation research in the laboratory of Dr. Anthony Antonellis. Her thesis project is focused on elucidating the pathogenic mechanisms underlying Charcot-Marie-Tooth disease associated with inherited tRNA synthetase gene mutations. Her career goals as a physician-scientist are to understand the fundamental mechanisms of genetic disease and to exploit those mechanisms for therapeutic development.
Department of Human Genetics 2015 Newsletter • 8
Faculty Awards, Honors and Promotions Promotions
Peter Gergics, PhD, Saher Sue Hammoud, PhD, Donna Martin, MD, PhD, Jacob Mueller, PhD, Jun Li, PhD, Gilbert Omenn, MD, PhD, Stephen Parker, PhD, Jacy Wagnon, Ph. D., Beverly Yashar, PhD,
Awards, Honors
Eric Fearon, MD, PhD, Diane Robins, PhD, Cristen Willer, PhD, Thomas Wilson, MD, PhD,
Research Investigator appointment in Human Genetics, effective July 1, 2015 Joint Faculty appointment in Obstetrics & Gynecology, effective August 1, 2015 Professor of Pediatrics and Communicable Diseases, and Professor of Human Genetics effective September 1, 2015 Joint Faculty appointment in Obstetrics & Gynecology, effective August 1, 2015 Associate Chair for Research, Dept. of Computational Medicine and Bioinformatics, (DCM&B) effective September 1, 2015 Distinguished University Professor effective September 1, 2015 Distinguished Postbac Mentor Award, NIH Research Investigator appointment in Human Genetics, effective November 1, 2015 Clinical Professor, Department of Human Genetics, effective September 1, 2015 2015 Distinguished Faculty Lectureship Award in Biomedical Research Senior Fellow, University of Michigan Society of Fellows 2015 Dean’s Basic Science Research Award 2014 Endowment for the Basic Sciences (EBS) Teaching Award
Departures
John Kim and Raymond Chan, left the Department of Human Genetics in 2015; we wish them well in their future endeavors.
New Faculty Alan Boyle, PhD joined us in July 2015 as a joint Assistant Professor. He arrived last fall with his primary appointment in Computational Medicine and Bioinformactics. Previously, he was a Postdoctoral Scholar in the Department of Genetics at Stanford University, and he received his PhD from Duke University. Dr. Boyle has an excellent background, having been involved in the NIH ENCODE Project since 2007, and the mouse ENCODE and modENCODE since 2010. The goal of his research is to understand the biological mechanisms underlying transcriptional regulation and how human variation at regulatory regions in the genome affects transcription.
John M. Carethers, MD is the John G. Searle Professor and Chair, Department of Internal Medicine. He is a gastroenterologist, and his research interests are in the genetics and molecular mechanisms of colon cancer, including familial adenomatous polyposis (FAP); Gardner, Peutz-Jeghers, Lynch, hereditary nonpolyposis colorectal cancer (HNPCC); juvenile polyposis, and hyperplastic polyposis. He is also interested in health disparities. He received his BS in Biological Sciences and MD with high distinction from Wayne State University, Detroit, Michigan. He carried out residency and internship at Massachusetts General Hospital and returned to Michigan for fellowship and postdoctoral training with Drs. Yamada and Weiss, respectively. He began at University of California, San Diego as an Assistant Professor and rose through the ranks to Professor, Chief of Gastroenterology and PI of an NIH T32 Training Grant. He was recruited to University of Michigan to head the Department of Internal Medicine in fall 2009. In addition to this leadership role he continues to see patients, teach, and carry out research in colon cancer etiology, detection and treatment. He received a joint appointment in the Department of Human Genetics in the Summer of 2015. Stephen Parker, PhD joined the department of Computational Medicine and Bioinformtics with a joint appointment in the Department of Human Genetics in the fall of 2014. He was a postdoctoral fellow with Dr. Francis Collins at NIH (NHGRI). He received his PhD in Bioinformatics at Boston University and worked as a Genome Data Analyst for 2 years at the Broad Institute. Dr. Parker’s long-term research objective is to dissect the rules that govern how regulatory genomic information is encoded, focusing on how variations in these rules influence disease susceptibility.
9 • Department of Human Genetics 2015 Newsletter
Department Events 2015 James V. Neel Lecture in Human Genetics The 15th Annual James V. Neel Lecture in Human Genetics was held on Tuesday, May 19, 2015 at the Alfred A. Taubman Biomedical Science Research Building in the D. Dan & Betty Kahn Auditorium. Eminent geneticist, Haig H. Kazazian, Jr., MD, Professor of Human Genetics at the Institute of Genetic Medicine in the Johns Hopkins University School of Medicine and former Director of the Center for Medical Genetics at Johns Hopkins, was the guest speaker. Dr. Kazazian’s talk, “A Potential Role for ‘Jumping Genes’ in Cancer”, was attended by university faculty, students and research personnel and provided a robust question and answer period prior to the student poster session and reception afterwards. This annual lectureship honors James Van Gundia Neel, MD, PhD, a pioneer in the study of human genetics and one of the first to foresee its John Moran, Haig Kazazian, Jr., Tony Antonellas and Sally Camper importance in the diagnosis and treatment of medical conditions. In 1956, Neel established the first academic department of human genetics in the United States at the University of Michigan Medical School, which he chaired for 25 years. He received the Lasker Award, the National Medal of Science, and was elected to the National Academy of Sciences. The May 24, 2016 Neel Lecture will feature Helen H. Hobbs, MD, a physician-scientist, Investigator of the Howard Hughes Medical Institute, and a Professor of Internal Medicine and Molecular Genetics at the University of Texas Southwestern Medical Center. She is Director of the McDermott Center for Human Growth and Development, which serves as the Center for Human Genetics at UT Southwestern. She is known for her work on the genetic determinants of cardiovascular and metabolic disease. Laurie Griffin, Haig Kazazian, Jr., and Diane Flasch
2015 Thomas D. Gelehrter Medical Genetics Lectureship The Thomas D. Gelehrter, MD Lecture in Medical Genetics took place on October 17, 2014 and featured Andrew Feinberg, MD, MPH as the invited guest speaker. Feinberg is the Director of the Center for Epigenetics at Johns Hopkins University School of Medicine, Baltimore, Maryland, and he was formerly a faculty member at the University of Michigan from 1986-1994. He is best known for his discoveries of altered DNA methylation in human cancer, and proved the epigenetic hypothesis of cancer in Beckwith-Wiedemann syndrome. More recently he has focused on epigenetic epidemiology and how it applies to areas as far reaching as autoimmune disease and behavior. He is the recipient of numerous honors including the MERIT and Pioneer awards from NIH, membership in the American Society for Clinical Investigation, the Institute of Medicine of the National Academy of Sciences, and the American Academy of Arts and Sciences. During his visit to Ann Arbor, Dr. Feinberg met with numerous Human Genetics faculty and students prior to his talk, entitled, “Genetics, Epigenetics and the Environment” at the BSRB Kahn Auditorium. A reception and dinner followed the lecture event. This lecture is part of a vision to foster the expansion of the clinical, educational, and research programs in medical genetics, and is inspired by Dr. Gelehrter’s dedication to the field. An internationally recognized expert in human genetics, Dr. Gelehrter is an active emeritus faculty member and former Chair of the Human Genetics department. He is known for his research, clinical care, teaching, and service. His work on the regulation of plasminogen activator inhibitor gene expression was continuously funded, including a MERIT Award from the National Cancer Institute, NIH. Dr. Gelehrter co-authored a textbook, Principles of Medical Genetics, and was awarded the American Society of Human Genetics Award for Excellence in Human Genetics Education in 2010, in recognition of his dedication to educating medical professionals. In addition, Dr. Gelehrter is an outstanding physician who is also wellknown for his sensitivity and compassion with his patients. Dr. Gelehrter has been honored by election to the American Society of Clinical Investigation, the Association of American Physicians, and the American Association for the Advancement of Science. He has served on the Board of Directors of the American Society of Human Genetics and is a founding fellow of the American College of Medical Genetics. Department of Human Genetics 2015 Newsletter • 10
Diane Baker Annual Alumni Award and Seminar
Hamilton Smith Receives Honorary Doctorate-Meets with HG Faculty
Anne Madeo, MS, CGC (Class of 1999) was honored as the 6th recipient of the Diane Baker Alumni Award. Anne visited the Department of Human Genetics on September 21, 2015 and presented an engaging seminar about her current activities and gave career advice to current students.
On December 14, 2014, Dr. Hamilton (Ham) O. Smith, MD, PhD, was awarded an Honorary Doctorate from the University of Michigan in recognition of his fundamental contributions in the field of genome research. Smith received an A.B. degree in mathematics at the University of California, Berkeley in 1952 and the MD degree from Johns Hopkins University in 1956. After six years of clinical work in medicine (1956-1962), he carried out postdoctoral research on Salmonella phage P22 lysogeny at the University of Michigan, Ann Arbor (19621967) with Myron Levine. In 1967, he joined the Microbiology Department at Johns Hopkins. In 1968, he discovered the first Type II restriction enzyme (HindII) and determined the sequence of its cleavage site. In 1978 he was a corecipient (with D. Nathans and W. Arber) of the Nobel in Medicine for this discovery. Restriction enzymes became the essential tools in the development of molecular cloning and recombinant DNA technology.
Anne Madeo, MS, GCC
Following graduation, Ms. Madeo worked at the National Institute on Deafness and Other Communication Disorders (NIDCD) in Bethesda, MD where she made tremendous contributions to the emerging field of hereditary hearing loss. She has also worked as the Associate Director of the Johns Hopkins University/National Human Genome Research Institute (JHU/NHGRI) Genetic Counseling Training Program and as an investigator in the social and behavioral research branch of NHGRI. Her research has focused on uncertainty and adaptation in rare and undiagnosed diseases. Most recently, she joined the Genomic Medicine Service of the Veterans Health Administration and is working on developing and establishing policies and procedures to provide national telemedicine genomic services to veterans. Her record of service to the genetic counseling profession is equally distinguished and diverse. She is currently the president of the American Board of Genetic Counseling (ABGC) and has served as the chair of the ABGC Certification Exam committee, chair of the NSGC Abstract Review Workgroup and NSGC liaison to the CDC’s National Center on Birth Defects and Developmental Disabilities. Her career exemplifies emerging trends in genetic and genomics-focused care and the application of innovative approaches to genetic counseling.
11 • Department of Human Genetics 2015 Newsletter
Dr. Hamilton Smith receiving his Honorary Doctorate Degree from UM President Mark Schlissel.
Dr. Smith currently leads the synthetic biology and biological energy groups at the J. Craig Venter Institute in Baltimore and San Diego. During his U-M visit, Dr. Smith presented a talk on his current work, which is focused on constructing a minimal microbial genome sufficient for life. He participated in a lively discussion of current research in the department, including studies of saturation mutagenesis in Jacob Kitzman’s lab, detection of somatic mutation in Jeff Kidd’s lab, enhancer biology in Steve Parker’s lab and assembly of cortical circuits in Ken Kwan’s lab.
Genetics Training Program, May, 2015 The annual retreat for the Genetics Training Program was held on Tuesday, May 5, 2015, at the BSRB Kahn Auditorium. Dr. Laura Landweber delivered the keynote lecture entitled, “RNA-Mediated Genome Rearrangement in the Ciliate Oxytricha.” Dr. Landweber is a Professor of Biology in the Department of Ecology & Evolutionary Biology at Princeton University. Her work investigates the origin of novel genetic systems, and her recent discoveries include the ability of small and long non-coding RNA molecules to transmit heritable information across generations, bypassing the information encoded in DNA. The keynote lecture was preceded by 20-minute presentations from three senior students in the Genetics Training Program: Denise Bronner, Kerry Flegel, and Emily Maclary. Faculty, students and guests attended a poster session and reception following the lecture.
Laura F. Landweber, Ph.D.
Denise Bronner
Kerry Flegel
Emily Maclary
Human Genetics Summer Picnic 2015 And the beat goes on, rain or shine... Indeed, as luck would have it, we were in for a rainy day picnic on June 18th! Thanks to the catering team at Weber’s Inn and their generous hospitality, the annual department picnic was held indoors with over 100 departmental colleagues, friends, and family in attendance. We played board games, and the usual tug of war contest was replaced by a game of scavenger hunt, with none other than Sally Camper playing Queen of Sheba (master of ceremonies). Other activities included Pictionary, ping pong, pool, face painting, and piñata for the youngsters. Special thanks goes to Ryan Mills, Karen Grahl, Sue Tarle, Alison Martin, and all those who planned and assisted in making this event a success.
Department of Human Genetics 2015 Newsletter • 12
Department Annual Fall Retreat The 2015 Human Genetics Department Retreat was held Sept 18 and 19, at the Kellogg Biological Station along the shore of Gull Lake near Kalamazoo, Michigan. This retreat provides an opportunity for department members with diverse expertise in basic research in genetics and genomics to come together. Both faculty members and trainees provided exciting updates for their recent research in both oral and poster presentations. The keynote lecture was given by Dr. Lee Niswander, PhD Professor, Pediatrics Department, Section Head of Developmental Biology, at the University of Colorado, Denver. Harnessing mouse forward genetics and state-of-the-art in vivo imaging techniques, Dr. Niswander’s group has provided significant insights into genetic and epigenetic mechanisms of fundamental processes in brain development including neural tube closure.
Join Us at the Next Chili Cookoff
Alumni Gather in New York Sally Camper hosted an alumni gathering for graduates of the University of Michigan Basic Science Departments in New York City at the El Quijote Restaurant of the Chelsea Hotel on Friday, April 24, 2015. Tony Antonellis and Steve Parker were also present as representatives of the Department of Human Genetics faculty, and they gave a short update on their research. Our alumni attendees included Michael Glynn (PhD 2005, Glover), Sara Hamon (PhD 2003, Sing), and Cris van Hout (PhD 2011, Douglas). Dr. Glynn is an attorney with Kenyon and Kenyon and both Drs. Hamon and van Hout are employed by Regeneron, Inc. It was fun to be able to make connections between our newer faculty and our alumni.
Tony Antonellis, Steve Parker, Human Genetics, Greg Witbeck, Development and Alumni Relations, Paul Jenkins and Emily Jutkiewicz, Pharmacology
Mike Glynn, Sara Hamon, Sally Camper, Tony Antonellis and Cris Van Hout
13 • Department of Human Genetics 2015 Newsletter
Building Legacies in Human Genetics Contribute today to help support named professorships, lectureships, fellowships and research funds. For online giving go to: http://hg.med.umich.edu/giving. Thank you to those who made donations this year and those who have designated the Department in their estate planning: Bernard W. Agranoff Charles Beck Jim Becker Victoria Beitler Francis Boyle Carolyn J. Bruzdzinski Sally A. Camper Gelea Clem William C. Cobb Harvey S. Cramer Dana Day David M. Doll Bennett Dyke Richard W. Erbe The Feiler Family Fund Farrehi Family Foundation Steven J. Ferrucci Stephen A. Fletcher
Lauren Fowler Thomas D. Gelehrter Thomas M. Glaser Thomas W. Glover Grundbacher Trust Thomas Holland Sue Hammoud Julia Helms Janis Henry Hannah J. Hensel Louis E. Holland Fred Homa Jeffrey W. Innis Shigeki Iwase Kyra Janke Sundeep Kalantry Kathryn Klein Nadia Knutzen
J.B. Land Co. LTD Barbara R. Levine Peter A. Levine Sura Levine Jun Li Jean W. MacCluer Jenny Martin Monica L. Marvin John Mesberg & Beverly Yashar Emily J. Moe Harvey & Elizabeth Mohrenweiser Monroe Medical Center LLC John V. Moran Jacob Mueller Elizabeth Munger Stiver National Society of Genetic Counselors Howard C. Passmore
Charles F. Pelzer Diane M. Robins Phoenix Rutherford David I. Sandberg Ann E. Savageau Jennifer P. Schneider Lana R. Seguin-Spillman Rachel Simin Brandi Smith Becca Smith Elaine B. Spector-Christensen Keith & Mattie Stevenson Foundation Richard E. Tashian Trust Akihiko Tsuji Wendy R. Uhlmann Ashley Waggener Gregory N. Witbeck Chris S.& Mark Yragui Diane Baker
Myron Levine
Lucia F. Brewer, Sally A. Camper and George J. Brewer
Thomas D. Gelehrter James V. Neel
Department of Human Genetics 2015 Newsletter • 14
University of Michigan Department of Human Genetics 4909 Buhl Building 1241 E. Catherine St. Ann Arbor, MI 48109-5618 RETURN SERVICE REQUESTED
2015 Human Genetics Faculty
Back row: Jun Li, Jeff Kidd, Martin Arlt, Jacob Mueller, Guy Lenk, David Kohrman, Jacob Kitzman, Ryan Mills, Stephen Parker, Sundeep Kalantry, Charles Sing, Peter Gergics, Julie Douglas. Middle row: Ken Kwan, George Brewer, Gilbert Omenn, Jeff Innis, Tom Glover, Tom Wilson, Shigeki Iwase, Alan Boyle, Stephanie Bielas, Sue Hammoud. Front row: Margit Burmeister, Miriam Meisler, Beverly Yashar, Cristen Willer, Sally Camper, Catherine Keegan, JoAnn Sekiguchi, Donna Martin Not pictured: Tony Antonellis, David Burke, Vivian Cheung, Ernest Chu, Eric Fearon, Santhi Ganesh, Tom Gelehrter, David Ginsburg, Huira Kopera, Monica Marvin, John Moran, Diane Robins, Jane Schuette, Richard Tashian.
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