One Baylor Plaza Houston, Texas, USA 77030 MS BCM225 bcm.edu/genetics MOLECULAR AND HUMAN GENETICS 2021 Keep up to date on all the latest news and advances from the Department of Molecular and Human Genetics at Baylor College of Medicine. Scan this QR code on your smart phone to link to our website or visit bcm.edu/genetics Accreditation Baylor College of Medicine is accredited by the Southern Association of Colleges and Schools Commission on Colleges to award masters and doctorate degrees. Contact the Commission on Colleges at 1866 Southern Lane, Decatur, GA 30033-4097 or call (404) 679-4500 for questions about the accredi- tation of Baylor College of Medicine. The Commission should be contacted only if there is evidence that appears to support Baylor's significant non-compliance with a requirement or standard. Baylor College of Medicine Diversity and Inclusion Policy Baylor College of Medicine fosters diversity among its students, trainees, faculty and staff as a prerequi- site to accomplishing our institutional mission, and setting standards for excellence in training healthcare providers and biomedical scientists, promoting scientific innovation, and providing patient-centered care. • Diversity, respect, and inclusiveness create an environment that is conducive to academic excellence, and strengthens our institution by increasing talent, encouraging creativity, and ensuring a broader perspective. • Diversity helps position Baylor to reduce disparities in health and healthcare access and to better address the needs of the community we serve. • Baylor is committed to recruiting and retaining outstanding students, trainees, faculty and staff from diverse backgrounds by providing a welcoming, supportive learning environment for all members of the Baylor community. Notice of Nondiscrimination Baylor College of Medicine is committed to a safe and supportive learning and working environment for its learners, faculty and staff. College policy prohibits discrimination on the basis of race, color, age, reli- gion, gender, gender identity or expression, sexual orientation, national origin, veteran status, disability or genetic information. Harassment based on any of these classifications is a form of discrimination and also violates College police (02.2.25, 02.2.26) and will not be tolerated. In some circumstances, such discrimi- natory harassment also may violate federal, state, or local law. MOLECULAR AND HUMAN GENETICS BCM.EDU/GENETICS Message from the Chair I am pleased to introduce you to the Depart- ment of Molecular and Human Genetics at Baylor College of Medicine. Our mission is to transform medicine with the practice and science of genet- ics and genomics. The integrated research, clinical, and diagnostic activities housed within our de- partment have led in the transformation of genetic medicine. In spite of the challenges of the COV- ID19 pandemic, our team continues to excel in all aspects of our mission. We continue to be a top-ranked genetics depart- ment. Among other U.S. genetics departments, our department has consistently ranked first in to- tal awarded NIH funding and total number of NIH grants. We continue to be leaders in the diagnostic test- leading to new gene discoveries and advance- ing arena with our joint venture with H.U. Group ments in the implementation of genetics and Holdings, Inc., Baylor Genetics. This jointly gov- genomics. These consortia include the All of Us erned laboratory continues to support the aca- program, the Undiagnosed Diseases Network, demic mission and innovation of the department the Centers for Mendelian Genomics, the Knock- while promising to extend the impact of genetic out Mouse Phenotyping Program, the Center for diagnostic testing world-wide including, most re- Precision Medicine Models, Clinical Genome Re- cently, for infectious diseases. source, Clinical Sequencing Evidence-Generating Research, and the Rare Diseases Clinical Research On the clinical front, in 2016, we established the Network. Baylor College of Medicine & Chinese University of Hong Kong Center for Medical Genetics where Ultimately, the innovation that has characterized our faculty is delivering the department's clinical, our department continues to reside in our two training, and research missions to a global venue. greatest assets: our renowned faculty and trainees. Since then, we led the development of a new Best regards, masters in genetic counseling program and in 2018, it's inaugural class began their studies. Also in 2018, we launched a new web-based platform called Consultagene, with the aim of expanding the department’s comprehensive genetic services Brendan Lee, MD, PhD and providing patient education, genetic counsel- Robert and Janice McNair Endowed Chair ing, peer-to-peer medical consultations in a virtual in Molecular and Human Genetics setting. In addition, new and continuing consortia with the National Institutes of Health and industry are CONTENTS About the Department 4 Graduate and Medical Education 6 Clinical Affairs 11 Diagnostic Laboratory Affairs 15 Community Outreach 17 Research Faculty 18 Primary Appointments 19 Secondary Appointments 86 Baylor College of Medicine 98 Texas Medical Center 99 Houston 100 Baylor College of Medicine Affiliated Hospitals, Institutions, and Facilities Map 101 ABOUT THE DEPARTMENT Huda Zoghbi, MD and Rodney Samaco, PhD Jim Lupski, MD, PhD and Pengfei Liu, PhD he Institute for Molecular Genetics was created tion for the Advancement of Science. in 1985 and the Department of Molecular and Human Genetics was established in 1994. The The Human Genome Sequencing Center led by Rich- TDepartment embodies five decades of organized ard Gibbs, PhD, Wofford Cain Chair in Molecular and genetics activity at Baylor College of Medicine. Starting Human Genetics, is a major strength of the environment, in the 1970’s with the arrival of Drs. C. Thomas Caskey and the Genome Center faculty members all have primary and the Henry and Emma Meyer Chair of Molecular and academic appointments in the Department. Other aca- Human Genetics, Dr. Arthur Beaudet, it has become the demic centers and units led by genetics faculty include the leading genetics program in the world. The Department Neurological Research Institute led by Dr. Huda Zoghbi is currently chaired by Dr. Brendan Lee, the Robert and and the Huffington Center on Aging led by Dr. Hui Zheng. Janice McNair Endowed Chair in Molecular and Human Genetics, and offers a variety of research, clinical, and Among genetics departments at U.S. medical schools, training programs in genetics and genomics to graduate we continue to rank highest in both the number of grants students, medical students, postdoctoral research fellows, and total funding from the National Institutes of Health. and medical genetics residents. The Department inte- Our facilities are equipped with state-of-the-art instrumen- grates basic research in genetic and genomic mechanisms; tation for research in molecular, cellular, and biochemical translational research in disease models; observational and genetics. Within the Department are also several special- therapeutic clinical trials in rare and common genetic dis- ized research centers that galvanize collaboration among eases; prenatal, pediatric, and adult medical genetics care; faculty at Baylor. We also have extended our mission and cutting-edge genetic diagnostic services. globally with a clinical center at The Chinese University of Hong Kong and the joint venture diagnostic laboratory, There are over 140 primary faculty spanning all of the Baylor Genetics, with H.U. Group Holdings, Inc. The De- missions of the Department. The research faculty are partment's various research, clinical, and administrative joined by clinical faculty, genetic counseling faculty, and activities currently occupy about 175,000 square feet of diagnostic laboratory faculty in our mission to transform space. Because of this rich environment, the Department the practice of medicine with the science of genetics. Our continues to be a magnet for trainees interested in genet- primary faculty include three members of the National ics while continuing to grow in breadth, depth, and ac- Academy of Sciences, six members of the National Acad- complishments. emy of Medicine, and six fellows of the American Associa- 4 GRADUATE ANDABOUT MEDICAL THE DEPARTMENT EDUCATION Department Leadership CHAIRMAN Brendan Lee, MD, PhD DEPARTMENT ADMINISTRATOR FACULTY ADVISORY Laura Rosales, EdD, COMMITTEE MBA DIAGNOSTIC LABORATORY RESEARCH AFFAIRS EDUCATIONAL AFFAIRS CLINICAL AFFAIRS OFFICE OF AFFAIRS Vice Chairs Vice Chairs Vice Chair COMMUNITY ENGAGEMENT Vice Chair Shashi Kulkarni, PhD & DIVERSITY Baylor Genetics Lab Gad Shaulsky, PhD Carlos Bacino, MD Graduate Education Directors Christine Eng, MD Susan Fernbach, RN Kim Worley, PhD Lorriane Potocki, MD Basic & Translational Undergraduate Medical Education Debra Murray, PhD Sandesh Nagamani, Daniel Riconda, MS, CGC MD Masters of Genetic Clinical Counseling Program V. Reid Sutton, MD Graduate Medical Education Susan Rosenberg, PhD Penelope Bonnen, PhD and Alison Bertuch, MD, PhD Andy Groves, PhD Ben Arenkiel, PhD 5 GRADUATE AND MEDICAL EDUCATION Division of Educational Affairs Director: Gad Shaulsky, PhD, Associate Directors: Graeme Mardon, PhD, & Meng Wang, PhD Gad Shaulsky, PhD Program Executive Committee Vice Chair Chonghui Cheng, MD, PhD Christophe Herman, PhD Gad Shaulsky, PhD EDUCATIONAL AFFAIRS William Craigen, MD, PhD Graeme Mardon, PhD Shinya Yamamoto, DVM, PhD Graduate Education Herman Dierick,