Ophir Klein MD PhD as Director of the Institute for Human Genetics

Dear School of Medicine Community,

Ophir Klein, MD, PhDI am pleased to announce the permanent appointment of Ophir Klein, MD, PhD, as Director of the Institute for Human Genetics (IHG), after serving in an interim capacity since July 1, 2020.

Dr. Klein attended the Yale University School of Medicine, where he received his medical degree and a PhD in Genetics. He completed residencies at Yale-New Haven Hospital in Pediatrics and at UCSF in Clinical Genetics.

Dr. Klein joined the faculty at UCSF in 2007 and is now a Professor of Orofacial Sciences and Pediatrics, the Larry L. Hillblom Distinguished Professor in Craniofacial Anomalies, and the Charles J. Epstein Professor of Human Genetics. He serves as the Chief of the Division of Medical Genetics in the Department of Pediatrics and the Chair of the Division of Craniofacial Anomalies in the School of Dentistry’s Department of Orofacial Sciences.

Dr. Klein’s research focuses on understanding how organs form in the embryo and how they regenerate in the adult, with a particular emphasis on the processes underlying craniofacial and dental development and renewal as well as on understanding how stem cells in the intestinal epithelium enable renewal and regeneration.

He has received several honors and awards, including New Innovator and Sustaining Outstanding Achievement in Research Awards from the NIH, and the E. Mead Johnson Award from the Society for Pediatric Research. Dr. Klein was elected to the American Society for Clinical Investigation, the American Association of Physicians, and the National Academy of Medicine, and he is a Fellow of the American Association for the Advancement of Science.

I have been impressed with Dr. Klein’s interim leadership of the IHG. During his tenure, he has focused on building on the Institute’s successful history to develop an innovative vision for the future. His commitment to community building, enabling interdisciplinary research, and defining the key areas of scientific inquiry will ensure the IHG continues to have an impact on the research, training, and clinical applications of human genetics at UCSF and beyond.

Given Dr. Klein’s exemplary track record in the field of human and developmental genetics research, his deep commitment to interdisciplinary teaching and training, and his extensive clinical and scientific leadership, I am confident that the IHG will thrive under his leadership.


Talmadge E. King, Jr., MD
Dean, School of Medicine

Addressing Race, Genetic Ancestry and Diversity

The IHG is pleased to spotlight the publication of two important papers written by IHG members, based on their scientific knowledge and their own personal histories. Both papers were published in February 2021 in the New England Journal of Medicine. We celebrate our members engaged in these high level discussions about race, genetic ancestry, diversity and racism in research and healthcare.

Embracing Genetic Diversity to Improve Black Health

Akinyemi Oni-Orisan, Pharm.D., Ph.D.*†, Yusuph Mavura, M.S.*, Yambazi Banda, Ph.D.*, Timothy A. Thornton, Ph.D.*, and Ronnie Sebro, M.D., Ph.D.*
*  Lamond Family Foundation Fellows at UCSF (past and present)
IHG Faculty

Race and Genetic Ancestry in Medicine – A Time for Reckoning with Racism

Luisa N. Borrell, D.D.S., Ph.D., Jennifer R. Elhawary, M.D., Elena Fuentes-Afflick, M.D., M.P.H., Jonathan Witonsky, M.D., Nirav Bhakta, M.D., Ph.D., Alan H.B. Wu, Ph.D., Kirsten Bibbins-Domingo, Ph.D., M.D., José R. Rodriguez-Santana, M.D., Michael A. Lenoir, M.D., James R. Gavin III, M.D., Ph.D., Rick A. Kittles, Ph.D., Noah A. Zaitlen, Ph.D., David S. Wilkes, M.D., Neil R. Powe, M.D., M.P.H., M.B.A., Elad Ziv, M.D.†, and Esteban G. Burchard, M.D., M.P.H.†
IHG Faculty

Representing different yet interconnected areas of focus is the work of two committees chartered by the IHG: the DEI & AntiRacism in Genetics Education Working Group and the IHG Committee on Genetics & Society. With their combined expertise in genetic research and genomic medicine, members are deeply engaged in discussions about health disparities, social justice, bias, and racism in the classroom and clinical environment. A primary goal of both groups is to provide recommendations to UCSF leadership regarding the importance and role of human genetics in human health and how to most appropriately integrate genetics into both health care and education in a fashion that is both accurate and antiracist.

Graduate Program in Genetic Counseling Gains Accreditation

UCSF Genetic Counseling Program

We are very pleased to announce that the UCSF Genetic Counseling Program received professional accreditation and will begin accepting applications in October 2020. The first cohort will matriculate September 2021. Under the championship of Genetic Counselor and Program Director Cindy Morgan, this exciting new two-year program will offer graduates a Master of Science degree in Genetic Counseling, as well as access to UCSF’s exclusive focus on health care and its many partners in the Bay Area.

In 2017, California State University Stanislaus (CSU) agreed to transition their Master’s in Genetic Counseling Program to UCSF. Synthesizing CSU’s well-structured foundation with UCSF’s access to genomics laboratories, specialty clinics, and research partners, Cindy Morgan and a committee of dedicated geneticists designed a powerful new curriculum well rooted in robust science education, humanistic counseling theory and the pursuit of clinical excellence.

This full-time program will matriculate 12 students per class and be primarily based at UCSF Mission Bay. Congratulations to Director Cindy Morgan and Associate Director Allyson Scott for their excellent work!

Kathy Hyland honored with the UCSF Distinction in Teaching Award

Katherine Hyland, PhD

The IHG is proud to announce that Katherine Hyland, PhD was awarded the 2020 Academic Senate Distinction in Teaching Award. Dr. Hyland is Adjunct Professor, Department of Biochemistry & Biophysics, member of the UCSF Institute for Human Genetics and the Haile T. Debas Academy of Medical Educators, and serves as Director of the Medical Genetics Theme in the SOM Curriculum.

Notably, Dr. Hyland became the Chair of the IHG Education Committee in 2018, leading the charge to assess needs and promote excellence in human genetics and genomics education across all UCSF schools and training programs. Due to her leadership, educational resources will be more readily available to all at UCSF, including a new Education section of the IHG website.

The Distinction in Teaching Award is selected by committees comprised of faculty and student representatives from all four schools at UCSF. Dr. Hyland says, “I’m honored and humbled to be recognized in this way. My main goal is for our students to become genomically literate physicians, and I feel this award honors why I do what I do!”

Dr. Hyland will be honored at the Senate’s Distinguished Faculty Awards Ceremony in fall 2020.

Katherine Hyland’s UCSF Profile | Award Announcement

Symposium to Honor Genetics Pioneer Raymond L. White

Celebrating the Life & Work of Raymond L. White

This symposium is being postponed until further notice.

Ray White’s pioneering research created the foundation for modern human genetics, which has transformed our understanding of human disease. The IHG is proud to recognize White, honoring his many contributions.

His seminal role in the technical development of human genetic linkage maps included collection of the CEPH family mapping set universally employed for map development, and development of new, highly polymorphic repeat markers (VNTRs). White’s genetic mapping efforts were foundational to the Human Genome Project, which sequenced the human genome.

He used these reagents to genetically map and clone many important human disease genes and studied the in vitro functions of their proteins. White also leaves a legacy in the generation of young scientists and physician scientists he trained that have gone on to discover genes underlying a broad array of human diseases and normal behaviors.

Join us in honoring genetics pioneer Raymond L. White

The IHG Symposium will be held Monday, June 22, 2020 at 10:45-6:30 in Genentech Hall on the UCSF Mission Bay campus and will include a poster session with awards for trainees, and a panel discussion on “The Future of Human Genetics.

REGISTER for Symposium

Akin Oni-Orisan receives Honorary ASCPT Early Investigator Award

Akinyemi Oni-Orisan, PharmD, PhDAkinyemi Oni-Orisan, PharmD, PhD was awarded the 2020 Darrell Abernethy Early Stage Investigator Award by the American Society for Clinical Pharmacology & Therapeutics (ASCPT). Akin will receive a $10,000 grant for his proposal, which aims to advance our understanding of cholesterol response to statin therapy for the prevention of ASCVD using techniques in pharmacodynamic modeling, pharmacoepidemiology, and pharmacogenomic analyses with electronic health record data.

Established by the ASCPT in 2018, the award is intended to foster the growth of early career scientists and honor the memory of Darrell Abernethy, MD, PhD.

Akin is an Assistant Professor in the Department of Clinical Pharmacy at UCSF. He is interested in identifying determinants of inter-individual response to pharmacological therapies (such as lipid-lowering therapies, antihypertensives, antiplatelets, and antidiabetics) that reduce the risk of cardiovascular disease.

Rada Savic, PhD, an Associate Professor in the Department of Bioengineering and Therapeutic Sciences at UCSF nominated Akin for the award.

Akin will be formally recognized as a recipient of this award at the ASCPT 2020 Annual Meeting (March 2020) in Houston, TX. The IHG warmly congratulates Akin on this achievement.

UCSF Profile for: Akinyemi Oni-Orisan

New Project to study Genetics of Breast Cancer in Latinas

Elad Ziv, Laura Fejerman, Kathryn PhillipsWe congratulate IHG faculty members Elad Ziv, Laura Fejerman and Kathryn Phillips for an award granted by the California Initiative to Advance Precision Medicine, sponsored by the California Governor’s Office.

Their project, entitled Improving Precision Medicine for Breast Cancer in Latinas: A Multi-Tiered Approach, aims to create a comprehensive portrait of genetic variants that predispose Latinas to breast cancer, and improve screening and hereditary breast cancer care in this population. The project will also evaluate tumor mutation data and clinical outcomes to improve treatment among Latinas with breast cancer.

One of their primary objectives is to expand community awareness about hereditary breast cancer (including genetic testing) in Latina women. Building on existing educational and outreach programs, training will be provided to community educators (Promotoras) on hereditary breast cancer risk among Latinas.

Elad Ziv is Professor of Medicine at UCSF and Principal Investigator on this project. Laura Fejerman will collaborate on germline and tumor genomic analyses and will lead outreach and education. Kathryn Phillips will oversee economic studies. Other UCSF faculty playing key roles include Niharika Dixit, Galen Joseph, Henrik Bengtsson and Eric Collisson. Congratulations!

UCSF Profiles for: Elad Ziv | Laura Fejerman | Kathryn Phillips

IHG Member John Witte receives Leadership Award

John Witte, PhDThe IHG applauds John Witte, PhD for receiving the Leadership Award from the International Genetic Epidemiology Society (IGES), presented at IGES in October 2018. This award is the highest honor given by the society, and was made in light of John’s research accomplishments, contributions to the society, and dedication to training and mentoring the next generation of genetic epidemiologists.

John has published over 200 articles on genetic epidemiology methods and applications. His lab develops widely used methods and software for studying rare genetic variants, pathways, interactions, and genome-wide association studies. His applied work has helped to decipher the genetic bases of cancers and many other complex traits.

He teaches genetic epidemiology at UCSF, and has mentored over 50 pre- and post-doctoral fellows, fostering the careers of many young investigators.

The IGES Leadership Award distinguishes John Witte, his trainees and lab members – congratulations all.

John Witte’s UCSF Profile

Announcing Symposium on Innovative Genomics Research

In service of UCSF’s mission to advance health worldwide through preeminent biomedical research, the Institute for Human Genetics and Bakar Computational Health Sciences Institute have partnered to bring you Genomic Advances Throughout the Lifespan — a symposium focused on innovative genomics research. The symposium will be held on Friday, December 7, 2018, beginning at 9:00am in Byers Auditorium and Atrium on the UCSF Mission Bay campus.

There will be a poster session during lunch just outside the Byer’s Auditorium in the atrium. No registration required.

Please direct any questions to lynn.duncan@ucsf.edu.

See full Program | Live Streaming through UCSF MyAccess

Fu and Kwok receive high honor from Academia Sinica

Ying-Hui Fu, PhD and Pui-Yan Kwok, MD, PhD

Pui-Yan Kwok, MD, PhD and Ying-Hui Fu, PhD

Pui-Yan Kwok, MD, PhD and Ying-Hui Fu, PhD were both elected to the National Academy of Taiwan, Academia Sinica, in July 2018.

Ying-Hui Fu’s accomplishments include ground-breaking studies in the genetics of sleep behaviors, identifying mutations that affect human sleep behavioral patterns and insights into mammalian circadian rhythm regulation. She is also known for characterizing demyelinating forms of neurodegenerative disorders, and identified trinucleotide repeat expansions as the molecular basis of genetic anticipation. In addition to the honor bestowed by Academia Sinica, Ying-Hui was elected to the National Academy of Sciences in May 2018, and to the National Academy of Medicine in October 2018.

In 2017, Pui assumed directorship of the Institute for Biomedical Sciences at the Academia Sinica in Taiwan, while maintaining his roles at UCSF as Director of the IHG Genomics Core Facility and member of the executive committee, principal investigator of the NBSeq and P3EGS studies, and as professor in the CRVI and Department of Dermatology. Known for developing and applying modern tools for human genomic analysis, in Taiwan, Pui is developing a program to advance precision medicine and human genetics in Asia.

We congratulate both Ying-Hui Fu and Pui-Yan Kwok on receiving these distinguished honors.

Academia Sinica announcement
Pui-Yan Kwok’s UCSF ProfileYing-Hui Fu’s UCSF Profile

Faces of Medical Genetics Education at UCSF

UCSF Medical Genetics EducationUnder the inspired direction of Dr. Katherine M. Hyland, PhD, the UCSF Medical Genetics Curriculum Committee (MGCC) has been the power station behind genetics education at the UCSF SOM.

Kathy is a Professor in the Department of Biochemistry and Biophysics and a member of the IHG. She is active locally and nationally with genetics/genomics education, and recently received a 2017-18 Bridges Curriculum Teaching Award. In 2004, she formed the MGCC, comprised of IHG faculty, clinical geneticists and genetic counselors who share an interest in education. Members work collaboratively, building innovative teaching sessions that contribute to the genetic/genomic literacy of our future physicians – from mendelian and multifactorial inheritance to the clinical utility of genetic/genomic testing. Current projects include developing a clinical genomics mini-course for M1’s, and crafting a Clinical Immersive Experience (CIEx) in genetics/genomics for M3’s.

Current members of the MGCC: Kathy Hyland (chair), Sergio Baranzini, Cindy Morgan, Shannon Rego, Marta Sabbadini, Joseph Shen (UC Fresno), Jessica Tenney, Jessica Van Ziffle, Kara Weisiger, Laurie Weiss and Elad Ziv.

Of the MGCC members, Kathy says “This amazing group of talented, passionate and dedicated professionals have gone above and beyond to ensure that the next generation of physicians are prepared to apply principles of genomic medicine to patient care at UCSF.”

UCSF Medical Education in Genetics | Kathy Hyland’s UCSF Faculty Profile

UCSF’s First Chief Genomics Officer

UCSF's First Chief Genomics OfficerThe IHG is delighted to welcome Aleksandar Rajkovic, MD, PhD, UCSF’s first-ever Chief Genomics Officer. With a joint appointment as UCSF professor in the departments of Pathology and of Obstetrics, Gynecology and Reproductive Sciences, Dr. Rajkovic serves as the Stuart Lindsay Distinguished Professor in Experimental Pathology.

Previously at the Magee-Womens Research Institute at UPMC, Dr. Rajkovic is a leading clinical geneticist and research scientist specializing in the genetics of fertility and reproduction.

At UCSF he will direct efforts to centralize UCSF’s genomics services across the health system, easing the way for UCSF physicians to obtain access to genetic testing for their patients. He will work closely with colleagues in Pediatrics, Obstetrics, Internal Medicine at UCSF Benioff Children’s Hospital in San Francisco and Oakland, as well as the UCSF Helen Diller Family Comprehensive Cancer Center.

Lab Website | UCSF Faculty Profile

Announcing Winter Genetics Day

Winter Genetics DayBuilding on the momentum of a highly successful Genetics Day in the Fall, the Institute for Human Genetics will host Winter Genetics Day on Thursday, February 15, 2018, beginning at 1:00pm at Parnassus in HSW-301.

Special guest and keynote speaker Dr. Michael F. Hammer will present “Genomic approaches to identifying genes associated with epilepsy severity in two patient populations.” Dr. Hammer is Research Scientist in the Division of Biotechnology at the University of Arizona, with appointments in the Department of Neurology, Ecology and Evolutionary Biology, School of Anthropology and University of Arizona Cancer Center.

Also speaking: Deepak Srivastava, President of the Gladstone Institutes and Professor of Pediatrics and Biochemistry & Biophysics, will begin the program with a talk on “Complex genetic inheritance of congenital defects.” Helen Kim, Assoc. Professor of Anesthesia and Investigator at the Center for Cerebrovascular Research will present “Familial cerebral cavernous malformations: Modifiers of disease severity and progression.” Yin Shen, Asst. Professor of Neurology, will speak on “Regulation of gene expression in the 3D genome.”

A special new component of Winter Genetics Day will be 5-minute “flash talks” by genetic trainees, scheduled between faculty presentations. Please join us for an afternoon of exciting scientific discourse and community.

Winter Genetics Day Program | Live Streaming on MyAccess

IHG Postdoc Navneet Matharu Awarded Two Top Prizes

Navneet Matharu, PhD

Navneet Matharu, PhD received the 2017 Charles J. Epstein Trainee Award for Excellence in Human Genetics Research at the annual meeting of the American Society of Human Genetics, as well as a prize for the winning abstract presented at IHG’s Fall Genetics Day 2017 for her work entitled “Promoter or enhancer activation by CRISPRa rescues haploinsufficiency caused obesity”.

Navneet tells an exciting story about developing CRISPR activation based therapeutic approach to treat dosage sensitive diseases. She shows that dosage upregulation can be achieved by targeting gene regulatory elements of one functional copy of haploinsufficient gene using CRISPRa. To show proof of concept of this approach in mouse, she uses a haploinsufficient gene SIM1 that leads to severe obesity in humans and mice. Her findings show that CRISPRa specificity can be achieved by targeting tissue specific regulatory elements, like SIM1 promoter or its long-range hypothalamic enhancer to rescue obesity. She developed CRISPRa-AAV based translational tools to show that SIM1 obesity can be rescued postnatal. This simple and elegant approach can be promising for treating haploinsufficient diseases.

Navneet Matharu is a postdoctoral fellow in the laboratory of Nadav Ahituv, PhD in the Department of Bioengineering and Therapeutic Sciences at UCSF.

Postdoc Slam Article | Slam Talk [23:37] | Graduate Division Tweet

IHG to Host Quarterly Genetics Day

IHG to Host Quarterly Genetics DayThe IHG is happy to announce a restructuring of our weekly seminars. For the 2017-2018 academic year, we will replace our weekly seminars with Genetics Day mini-symposia, to be held quarterly.

The inaugural Fall Genetics Day event will be held Thursday, September 28 from 1:30pm to 5:00pm at Mission Bay in Oberndorf Auditorium MBH# A1602A/B.

The event will feature a talk on MicroRNAs in Development and Disease by visiting lecturer, Lin He, PhD of the Department of Molecular and Cellular Biology, UC Berkeley. Five IHG faculty presentations will focus on current research projects. One graduate student or postdoc will present work based on their winning abstract in the recent IHG abstract competition.

A special thank you goes out to the IHG Seminar Committee members for their work on past and present IHG seminars.

IHG Genetics Day Program | Live Streaming on 9/28 via MyAccess

Celebrating Clinical Exome at UCSF

Clinical Exome Sequencing Goes Live!The IHG and Genomic Medicine Initiative (GMI) hosted a special event on Tuesday, June 27 to celebrate the launch of clinical whole exome sequencing at UCSF.

This new service is a groundbreaking achievement in realizing the goals of precision medicine at UCSF, offering clinicians access to the latest genomic technology for improved diagnosis and care of their patients.

Speakers at the event, including our clinical geneticists, molecular pathologists, bioinformaticians and bioethicists, described the scientific basis of whole exome sequencing, its interpretation and clinical utility.  Professor Gail Jarvik, MD, PhD, Director of Medical Genetics at University of Washington, was the Charles and Lois Epstein Visiting Professor. Her keynote address, “Moving the Genome to the Clinic,” addressed the perils and benefits of applying genomic sequencing data to patient care.  A panel discussion addressed numerous important questions from the audience.

Another highlight was a talk by UCSF patient Jacqui Morgan, who told her inspiring story, “Doctors are trained to look for a horse in a field of horses, when they should have been looking for a zebra.”

 Livestream 1:00-2:35pm | Livestream 2:35-5:00pm

Clinical Exome Goes Live

The Institute for Human Genetics and Genomic Medicine Initiative are proud to announce the launch of clinical whole exome sequencing at UCSF.  This milestone event in the history of UCSF and the IHG was made possible through the concerted efforts of many, including our outstanding clinical geneticists, genetic counselors, laboratory staff, molecular pathologists, bioinformaticians, and bioethicists.

The launch will be celebrated at the campus-wide symposium Delivering Precision Medicine at UCSF: Clinical Exome Sequencing Goes Live on June 27 from 1-5pm at Byers Auditorium in Genentech Hall, with a reception to follow.

The program includes talks from our clinical, laboratory, informatics and bioethics faculty and staff, describing the procedures involved in whole exome sequencing, the suitability of patients for this test, and how to engage this service.  We will also be treated to a lecture from Epstein Visiting Professor, Gail Jarvik, MD, PhD, Joint Professor of Medicine and Genome Sciences at the University of Washington, entitled “Moving the Genome to the Clinic” and an inspiring story from one of our patients, Jacqui Morgan, entitled “Doctors are trained to look for a horse in a field of horses, when they should have been looking for a zebra.”

 Symposium Schedule | Register

IHG Investigators Lead NIH ENCODE Projects

Nadav Ahituv and Shin Yen lead NIH ENCODE Projects

The National Human Genome Research Institute (NHGRI) launched a public research consortium named ENCODE, the Encyclopedia Of DNA Elements, in 2003, with the goal of understanding the DNA grammar of non-coding sequences, which constitutes 98% of the human genome. A new round of funding for five centers was announced on February 2nd to expand this flagship program.

Two of our IHG faculty members, Drs. Nadav Ahituv and Yin Shen, will lead two of the five new “characterization centers” to study how non-coding regulatory elements influence gene expression and, consequently, cell behavior. The Ahituv and Shen labs will be employing novel techniques to study enhancers, which play a critical role in gene expression.

The work of Drs. Ahituv and Shen epitomizes how basic characterization of the human genome and its expression can lead to a fuller understanding of how disease develops and to potential treatment strategies. Hearty congratulations to Nadav and Yin!

UCSF News Article | Article on New Reddit Journal of Science

Happy Holidays from the IHG!

IHG 10th Anniversary & Holiday Party

The IHG community gathered at the Forest Hill Clubhouse on December 13, 2016 to celebrate the 10th Anniversary of our Organized Research Unit and the year-end holidays.

The evening featured the professional magician-comedian Robert Strong as well as our own talented performers Nadav Ahituv, PhD, who showed off his juggling skills, and Sherman Jia, who gave a viola performance. Those who took advantage of the photo booth donned hats and wigs and shared in some fun with their friends and co-workers.

We wish you all a happy and safe holiday season and we look forward to the next 10 years of genetics advances.

Best wishes for a happy, healthy and prosperous 2017.

UCSF Ranked #3 Globally in Molecular Biology and Genetics for Second Year

U.S. News & World Report has, for the second year in a row, ranked UCSF #3 in Molecular Biology and Human Genetics. In their recent report for 2016, published October 24, 2016, benchmarked against 1000 institutions across 65 countries, UCSF was ranked #16 overall among all institutions (up from #23 from last year). In the area of Molecular Biology and Genetics, UCSF was ranked only behind Harvard and MIT. The evaluation is based primarily on global and regional reputation and publications and citation impact.

Responding to the ranking, IHG Director Neil Risch, PhD said, “Once again, this is an important recognition of the pre-eminence of UCSF in the area of genetics and human genetics as well as molecular biology. It is an exciting and affirming acknowledgment of our sustained major contributions in these areas — and one in which we should all be proud. Hearty congratulations to all of our IHG and UCSF members in Genetics and Molecular Biology.”

For more information about the ranking methodology, please see the article.

IHG at ASHG 2016

UCSF has a longstanding relationship to the American Society of Human Genetics (ASHG), dating back to the arrival of Charlie and Lois Epstein at UCSF in 1967. Three UCSF faculty members have served as ASHG presidents, and many more have received prestigious awards.

This year, we will start a new tradition of highlighting faculty, postdocs, students and staff participating in the ASHG 2016 meeting on October 17-22 in Vancouver, BC. A PDF of the 2016 schedule of UCSF presentations by name and abstract title is here.

Each year, our students and postdocs are among the semifinalists and finalists for the coveted Charles Epstein Trainee Awards. This year, we are proud to report that graduate student Rachel Gate (Ye Lab) was a semifinalist, and postdoc Joshua Hoffman (Witte Lab) is a finalist, for the Epstein Award.

All UCSF faculty, alumni, trainees and staff are warmly invited to attend a reception hosted by IHG and Department of Pediatrics, Division of Medical Genetics on Wednesday, October 19 @ 7:00pm – 11:00pm at Tap & Barrel – Convention Centre at 1055 Canada Place, Vancouver.

For more information, please contact Lynn Duncan at 415.476.1127 | lynn.duncan@ucsf.edu

IHG Presence at ASHG 2016ASHG 2016 | Tap and Barrel Restaurant

Lifetime Achievement in Health Equality Awarded to Esteban Burchard

Prevalence of asthma prevalence in U.S. by ethnicity

Esteban Gonzalez Burchard, MD, MPH was awarded the 2016 American Thoracic Society’s Innovations in Health Equality Lifetime Achievement Award for his work on health equality in diverse populations.

Esteban cultivated an early interest in health disparities, genetics and pulmonary medicine while at Stanford University. As a Harvard medical resident, working with Jeffrey Drazen, MD, Esteban identified a genetic risk factor for asthma severity that was 40% more common in African Americans than European Americans.

Esteban continues to study the genetics, epidemiology and pharmacogenetics of asthma as UCSF’s Harry Wm. and Diana V. Hind Distinguished Professor in Pharmaceutical Sciences.  He is best known for the GALA and SAGE studies which analyze the interplay of social, environmental and genetic factors affecting asthma risk and treatment in minority youth. These studies comprise the largest pediatric gene-environment study of asthma in ethnic/racial minority populations in the U.S.

Esteban has consistently advocated for better representation of diverse populations in biomedical research and physicians and scientists from minority and disadvantaged groups, asserting that a better understanding of genetics in minority and underserved populations leads to more targeted therapy for all individuals.

Figure: Lifetime asthma prevalence varies substantially by race/ethnicity, making asthma the most disparate chronic disease in the U.S.

Research Laboratory Website | UCSF Profile | IHG Bio

Newborn Screening for SCID Developed by Jennifer Puck

SCID Newborn Screening

Severe combined immunodeficiency (SCID) is rare, but a founder mutation in the DNA repair enzyme Artemis (DCLRE1C) causes SCID in 1/2000 Navajo Native American infants. SCID infants lack T and B lymphocytes, and untreated SCID patients succumb to viral, bacterial and fungal infections early in life unless treated, usually by bone marrow transplant.

In 2005, Jennifer Puck, MD, developed a newborn screening (NBS) test for SCID based on measuring T-cell receptor excision circles (TRECs) in DNA isolated from infant dried blood spots. This test allows SCID to be detected in pre-symptomatic newborns, making possible optimal treatment. California started universal SCID NBS in 2010.

In a 2014 study of SCID NBS in 11 public health programs, Dr. Puck and her colleagues showed that SCID in the general population is twice as common as previously thought (1/58,000 births); 52 cases were found and none were missed; and the TREC assay also detected other disorders with low lymphocytes. 36 states and the Navajo Nation now have SCID NBS, and UCSF has treated 28 infants, including 5 Navajos referred here for bone marrow transplants. Dr. Puck directs the UCSF Jeffrey Modell Diagnostic Center for Primary Immunodeficiences and with Dr. Mort Cowan is developing gene therapy for Artemis deficient SCID.

IDF SCID Newborn Screening CampaignUCSF Profile | IHG Bio

UCSF Ranked #3 Globally in Molecular Biology and Genetics

U.S. News and World ReportU.S. News & World Report has created a new system to rank universities globally.  In their recent report for 2015, published in October, benchmarked against 750 institutions across 60 countries, UCSF was ranked #23. However, in the area of Molecular Biology and Genetics, UCSF was ranked #3, following only Harvard and MIT. The evaluation is based primarily on global and regional reputation and publications and citation impact.

Responding to the ranking, IHG Director Neil Risch, PhD said, “This is an important recognition of the prominence of UCSF in the area of genetics and human genetics, as well as molecular biology more generally. Because the ranking is based primarily on the reputation of our faculty members and their published research, it is an exciting and affirming acknowledgment of the major contributions we have made over the past years and currently, and one in which we should all be proud. Hearty congratulations to all of our IHG members and beyond.”

For more information about the ranking methodology, please see the article.

Symposium Poster Awards to Banda, Barruet, and Subramaniam

Y.W. Kan and Speakers at IHG Symposium
Congratulations to the winners of the IHG Symposium 2015 poster session. The award for Best Poster by a Graduate Student was given to Meena Subramaniam (Ye and Zaitlen labs). Yambazi Banda (Risch lab) and Emilie Barruet (Hsiao lab) shared the award in the Postdoc category.

Meena’s poster outlines a statistical method to leverage Allele Specific Expression in Quantitative Trait Loci (QTL) detection that she is currently developing.  Through simulations as well as real data she showed that applying a linear mixed model framework accounting for the noise correlation between the two copies of each gene resulted in more powerful and accurate detection of QTLs.

The work presented in Yambazi’s poster was analyses of mating patterns and genetic ancestry between and within the European, East Asian, Latino, African American, and South Asian participants in the Northern California Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The very complex nature of structured mating observed suggests a need for its careful consideration when designing and interpreting population-based genetic studies.

Emilie’s poster investigates the role of endothelial cells in abnormal bone formation in Fibrodysplasia Ossificans Progressiva (FOP). She uses human induced Pluripotent Stem Cells to create affected cell types that cannot be directly isolated from FOP patients. She found that FOP iPS-derived endothelial cells show increased cell plasticity as well as a predisposition towards osteogenesis.

The 18 posters printed by students, postdocs, and faculty represented the broad range of research being conducted in the IHG. Congratulations to all who participated.

Top Geneticists Join to Celebrate Y.W. Kan

Y.W. Kan and Speakers at IHG SymposiumIf it wasn’t clear before, it was by the end of the symposium when Y.W. Kan received a lengthy standing ovation that his work is revered and appreciated by top geneticists around the world.

The IHG was proud to celebrate pioneering geneticist Y.W. Kan in a special research symposium held Monday, November 2. The program included talks by NIDDK Director Griffin Rodgers, Dennis Lo, 2015 Epstein Lecturer Stuart Orkin, Katherine High, James Gusella, and Robert Nussbaum.

Also on hand to deliver special remarks throughout the day were UCSF School of Medicine Dean Talmadge King, UCSF Benioff Children’s Hospital President & CEO Bertram Lubin, and former Dean Lloyd H. Smith. Smith recruited Kan to UCSF in 1972.

During the post-symposium reception, the IHG awarded prizes for the best poster presentations to Meena Subramaniam (graduate student), Yambazi Banda (postdoc), and Emilie Barruet (postdoc).

Also announced were the faculty winners of the IHG Exploratory Grant competition to help seed new research ideas. The two winning proposals were submitted by Jimmie Ye & Yin Shen and Nadav Ahituv.

Photos of the symposium are available on the IHG Symposium website. See the UCSF News Office’s article of the symposium

IHG Symposium

IHG Symposium celebrates the Work of Y.W. Kan

Y.W. Kan’s pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions.

Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andrée Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes.

He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies.

The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor.

Featured topics will include gene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing.

Join us in honoring genetics pioneer Y.W. Kan

The IHG Symposium will be held November 2, 2015 at 1:00-6:30 in Cole Hall on the UCSF Parnassus campus and will include a poster session and awards.

IHG Symposium website | Register Now

IHG Symposium

The IHG Welcomes New Faculty

Yin Shen, PhD and Jimmie Ye, PhD

The IHG warmly welcomes two new faculty members, Yin Shen, PhD and Chun (Jimmie) Ye, PhD.

Yin Shen was recruited to the Institute for Human Genetics from Dr. Bing Ren’s lab at Ludwig Institute for Cancer Research at UC San Diego in La Jolla, CA, where she led the genomic functional characterization effort in the mouse ENCODE project. She earned her PhD from UCLA, where she studied epigenetics and gene regulation, utilizing cutting-edge genetics, genomics and stem cell technologies.

Chun (Jimmie) Ye received his PhD in Bioinformatics and Systems Biology at UC San Diego/UCLA, where he developed a number of statistical methods for identifying and interpreting genetic loci associated with gene expression (eQTL). As a postdoc at the Broad Institute under Aviv Regev, Jimmie led a team of computational and experimental biologists to study the role of genetic variation in the response of immune cells to cytokines and/or pathogens.

Yin and Jimmie are settling beautifully into their respective labs on the 9th floor of UCSF Parnassus. Please stop by to say hello, and join us in wishing them great success at UCSF.

Shen’s UCSF ProfileYe’s UCSF Profile

Two IHG Members Receive Prestigious Honors

Louis Ptacek, MD and Ophir Klein, MD, PhD

The IHG is proud to announce that Louis Ptáček will receive the American Society for Clinical Investigation’s Stanley J. Korsmeyer Award and Ophir Klein will be awarded the E Mead Johnson Award from the Society for Pediatric Research.

Louis Ptáček, MD, PhD is a pioneer in the field of “channelopathies”— episodic and electrical disorders of muscle, heart and brain. He cloned the genes for all the familial periodic paralyses and proposed these rare muscle disorders as a model for pathogenesis of cardiac arrhythmias, epilepsy and migraine. This work has already led to better diagnosis and treatment of patients.

Ophir Klein, MD, PhD has worked at the interface of genetics, development, and evolutionary biology to advance our understanding of stem and progenitor cells. He has used the continuously-growing rodent incisor as a novel system for investigating mammalian stem cells, and his group has also made contributions to the biology of renewal in the intestine, tongue, and other organs.

Louis Ptáček will receive his award at the annual ASCI Meeting in April. Ophir Klein will receive his award at the annual Pediatric Academic Societies meeting in April.

Stanley J. Korsmeyer Award | E Mead Johnson Award
Ptáček’s UCSF ProfileKlein’s UCSF Profile

In Fond Memory and Celebration of Lois Epstein

Lois Epstein, MD, DScDr. Lois Barth Epstein, a beloved member of the UCSF Human Genetics community, passed away on February 6, 2015 after a short illness.

A 1959 graduate of Harvard Medical School, Dr. Epstein moved to San Francisco to join the UCSF Cancer Research Institute, initially as a research physician and later becoming Associate Director. She was a pioneer in the research of interferons, and together with husband Dr. Charles Epstein, developed the first mouse model for Down syndrome. Her many honors included a National Institutes of Health MERIT award, the Lifetime Achievement in Research Award from the International Society for Interferon and Cytokine Research, and an honorary Doctor of Science Degree.

Above all, Dr. Epstein was a warm and loving person who brought a spirit of grace to every aspect of her life. She will be missed. The Epstein Family legacy is honored by The Charles J. and Lois B. Epstein Visiting Professorship, which provides for an annual UC lectureship by a globally renowned human geneticist.

Obituary in Marin Independent Journal

Suzanne Cassidy receives ASHG Education Award

Suzanne Cassidy, MD

At the recent 2014 annual meeting of the American Society of Human Genetics in San Diego,  the ASHG Award for Excellence in Human Genetics Education was given to our own Suzanne Cassidy, MD.  The award was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education.

Suzanne is well known for her clinical and research leadership in understanding the Prader-Willi syndrome.  She has played key roles in the genetics education of medical students, residents, and trainees as well as of patients and their families. She has developed a variety of educational materials, including three editions of the textbook Management of Genetic Syndromes, and clinical genetics training programs around the country.  She was also a member of the founding Residency Review Committee for Medical Genetics when the field was first recognized as a medical specialty, and has served on the American Board of Medical Genetics and Genomics. She currently serves as President of the International Prader-Willi Syndrome Organization.

While the IHG has among its members a number of former ASHG award winners, Suzanne holds the unique position as our only recipient of this award.

ASHG Award Presentation DetailsPress Release
ASHG Award for Excellence in Genetics Education

Predicting Disease — Using Big Data for Precision Medicine

Predicting Disease — Using Big Data for Precision Medicine

Knowledge is power.  Joseph Shieh MD, PhD and his colleagues are developing new tools to leverage big data for precision medicine. In their recent studies, Dr. Shieh, a genomics physician at UCSF, and colleagues Xiaoyan Ge, PhD and Pui-Yan Kwok MD, PhD teamed up to produce practical tools for healthcare application.

“We’re using smart tools to predict disease by analyzing vast amounts of genetic sequence data,” said Dr. Shieh. Building on a foundation from human genome projects and global population sequencing efforts, the team from UCSF set out to examine thousands of human protein-encoding genes for disease-prediction patterns. Science has deciphered a fraction of the genes that affect health, but with exome technologies advancing, Shieh and his colleagues have developed new predictive tools to analyze variation patterns in thousands of genes. Remarkably, they found genes on the X-chromosome, a sex chromosome, are highly influential in early-onset diseases and harbor many novel disease markers useful for disease prediction. Paper

“The power of informatics and genetics to predict human disease is remarkable,” Ge, a post-doctoral fellow with Dr. Shieh, stated. The team would like to expand the work and use of smart tools to revolutionize care in settings such as the UCSF Genomics Clinic, where Dr. Shieh sees his patients. “There are more than twenty thousand genes in the genome and we can now decode that genetic information, but we need to leverage the knowledge for patients,” Shieh remarked. “These efforts forward care for undiagnosed disease patients, and we should also advance children’s health, preterm birth studies, and preventive care in adults using this collective knowledge.”

Paper Abstract | Joseph Shieh | Pui-Yan Kwok | IHG Genomics Tools
UCSF Genetics CareBenioff Children’s Hospital | NIH

Big Data and Genomics: Revolutionizing the Diagnosis and Treatment of Disease

Big Data and Genomics: Revolutionizing the Diagnosis and Treatment of Disease

Courtesy of Shutterstock

The IHG is pleased to co-sponsor this World Affairs Council Business Forum, featuring IHG faculty member Robert L. Nussbaum, MD.

Next-generation genomics can be described as the combination of sequencing technologies and big data analytics. The potential impact of this disruptive technology in health care will be primarily realized through extending and enhancing lives through faster disease detection, more precise diagnoses, new drugs, and more tailored disease treatments. The technical challenges inherent in genetic engineering technology are great but may be less formidable than the social, ethical, and regulatory concerns it may generate. Please join us for a discussion of the possibilities and the challenges of next-generation genomics and implications for health care worldwide.

Tuesday, September 16, 2014 @ 6:30 – 8:00 PM

UCSF faculty, staff, and students can attend for FREE if you RSVP HERE using the code: UCSFGENOMICS (ID must be presented at event)


Byers Auditorium, Genentech Hall, UCSF Mission Bay Campus
600 16th Street, San Francisco, CA


Robert Nussbaum — Chief, Department of Medicine & UCSF Institute for Human Genetics, UCSF

Timothy Behrens — Senior Staff Scientist and Director, Human Genetics, Genentech

Francis deSouza — President, Illumina Corporation


Michael Chui — Partner, McKinsey Global Institute

This is a World Affairs Council event and is sponsored by the IHG, UCSF, and BayBio

UCSF Informatics Day a Success!


We are pleased to announce UCSF Informatics Day — Leveraging Clinical Data for Research was a resounding success! Thanks to all who joined for the inaugural UCSF Informatics Day! 

With over 400 UCSF Faculty, Students, and Staff in attendance; and a program featuring leadership talks, resource talks, and scientific use cases as well as booths showcasing various campus informatics resources. We will be making many of these talks available on the web, please check the website for updates. Our program featured:

•  Plenary Lecture     •  UCSF Leadership talks     •  Use-Case talks
•  Informatics Resources     •  Networking Opportunities!

SLIDES OF THE TALKS ARE AVAILABLE on the Informatics Day website

Announcing UCSF Informatics Day!

UCSF Informatics Day

We are pleased to announce the UCSF INFORMATICS DAY — Leveraging Clinical Data for Research. The event will showcase clinical data sources for use in basic, translational, and clinical research. Over the past few years, UCSF has significantly expanded its informatics and IT footprint, providing expanded critical services to support basic, translational, and clinical research. UCSF Informatics Day will give you the opportunity to learn about the systems and tools available to support your research.

The day will feature

  • Keynote Speaker addressing the role of informatics in biomedical research
  • Short presentations highlighting the available systems and tools
  • Scientific presentations by investigators who are utilizing these resources in their own research
  • Booths with hands-on demonstrations

Please join us and your UCSF colleagues to see how you can benefit from the investments that we’ve made and continue to make in the informatics infrastructure at UCSF.

The event will be held
Tuesday, June 10 from 9 AM — 5 PM

Robertson Auditorium, Mission Bay Conference Center
For the Schedule and to Register visit the UCSF Informatics Day website

Organized by CTSI, Institute for Human Genetics, Institute for Computational Health Sciences, UCSF Office of Research, and UCSF Medical Center

Stevison Awarded John Maynard Smith Prize

Laurie Stevison, PhD

Laurie Stevison, PhD, a Postdoctoral Fellow in the IHG, was recently awarded the John Maynard Smith prize for outstanding young evolutionary biologist from the European Society for Evolutionary Biology (ESEB). Stevison will give the JMS 2014 prize lecture at the ESEB Congress 2015 in Lausanne, Switzerland and has been offered a junior fellowship at the Wissenschaftskolleg Institute in Berlin.

Stevison is an evolutionary geneticist interested in speciation, recombination rate evolution and hybridization. She completed a master’s degree from Rice University working with Michael Kohn on hybridization in macaques. Most recently, she received her PhD from Duke University in 2011, where she studied recombination and speciation in Drosophila with Mohamed Noor.

Stevison is currently an NIH Ruth Kirschstein NRSA Postdoctoral Fellow with IHG Faculty mentor Jeff Wall. She is working on several collaborative research projects, including comparative genomics of recombination rate variation in great apes.

John Maynard Smith Prize Announcement | Laurie Stevison’s website

IHG Welcomes Presidential Scholar

Wylie Burke, MD, PhDWylie Burke, PhD, MD, Professor of Bioethics and Humanities at the University of Washington, has been named the 2013-14 UCSF Presidential Chair. The IHG serves as one of Professor Burke’s hosts for this Chair, awarded to encourage new, interdisciplinary program development.

Burke is one of the preeminent scholars examining the ethical, legal, and social implications (ELSI) of advances in human genetics, particularly the translation of novel genomic technologies from the bench to the clinic.

She received a PhD in Genetics and an MD from the University of Washington. Professor Burke is a member of the Institute of Medicine, past President of the American Society of Human Genetics, and former Chair of the Institute of Medicine Roundtable on the Translation of Genome-based Research for Health. She is also the founding director of the University of Washington’s Center for Genomics and Healthcare Equality, funded by the National Human Genome Research Institute.

While at UCSF, Professor Burke will give a series of lectures (the PRESIDENTIAL CHAIR LECTURE SERIES) MAY 5-9, 2014, teach an inter-disciplinary course “Challenges in ‘Precision’ Genomic Medicine and Public Health,” in the Spring Quarter 2014, and participate in seminars and working groups sponsored by the Kaiser Permanente / UCSF Center for Transdiciplinary ELSI Research in Translational Genomics (CT2G) and the Institute for Human Genetics (IHG).

To contact Professor Burke, write to info@ct2g.org
Presidential Chair Lecture Series schedule | Print Schedule

Farewell to Jane Gitschier and Sy Packman

Farewell to Jane Gitschier and Sy PackmanTwo long-term genetics faculty retired on June 30, 2013. We would be remiss if we didn’t acknowledge their long term contributions to the field of human genetics both locally and nationally/internationally.

Jane Gitscher, PhD, Professor of Medicine and Pediatrics and Associate Director of the IHG, and Seymour “Sy” Packman, MD, PhD, Professor of Pediatrics have devoted upwards of 60 years (combined) to UCSF. Both have a strong history of training students and seeking answers to genetic questions — Sy on the clinical side and Jane at the bench and in the classroom. They also collaborated on a research project to study disorders of copper transport caused by gene mutations. Both are internationally recognized for their long and productive careers, numerous important findings, and service to human genetics organizationally.

Human Genetics at UCSF owes its prominence today to faculty like Sy and Jane who energetically pushed for greater Genetics presence in the curriculum and in the clinics. We are grateful for their participation and contributions to the Institute for Human Genetics and look forward to seeing them at future IHG events as emeritus/emerita faculty!

Jane Gitschier’s website | Jane Gitschier’s PLOS Interviews | Sy Packman’s bio