Principal Investigator

Olaf A. Bodamer, M.D. Ph.D., FACMG FAAP 

Dr. Bodamer obtained his M.D. degree from the University of Heidelberg, Germany and his Ph.D. degree from the University of Saarland, Germany. Following Pediatric residencies in Germany and at the Great Ormond Street Hospital in London, he moved to the United States for a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Following his Directorships of the Austrian Newborn Screening Program as well as the Division of Pediatric Genetics at the University Children’s Hospital Vienna in Austria, he returned to the United States in 2010 to join the University of Miami as the founding Chief of the Division of Clinical and Translational Genetics and Director of the Medical Genetics Laboratories.

Dr. Bodamer was recruited to Boston Children’s Hospital in 2015 as Associate Chief for Genetics and Genomics, where he also has an established research laboratory. He is member of several Editorial and Scientific Advisory Boards, including Molecular Genetics and Metabolism, Journal of Inherited Diseases, Translational Medicine and Translational Journal of Rare Disease as well as of Patient Organizations (All Things Kabuki, Organic Acidemia Association) respectively. Recently he has been elected to the Board of the European Society of Human Genetics.

Dr. Bodamer has a busy clinical practice at Boston Children’s Hospital where he sees patients of all age groups with genetic disorders with a focus on lysosomal disorders and Kabuki syndrome. Dr. Bodamer is the Director of the Boston Children’s Lysosomal Storage Disease (BoLD) Program and the Boston Children’s Roya Kabuki Program. In addition he is active in several areas of translational genetics and genomics research, in clinical trials and in educational and teaching activities within Harvard Medical School.

 

Staff Scientists / Postdoctoral Fellows

Christina Y. Hung, M.D., FACMG

Christina was awarded her M.D. from the Medical University of Vienna, Austria, where she was first introduced to the field of Genetics and Metabolism by Dr. Bodamer.  After her graduation in 2008, she completed 1.5 year of pediatric training at the University Hospital Salzburg, Austria, before she was recruited as a post-doc by Dr. Bodamer to join in his research endeavors at the University of Miami, Miami, FL.

Christina has since worked on the identification and characterization of novel disease-causing genes including RIT1, SOS2, SLC39A14 and CENPT. She was a semi-finalist for the Charles J. Epstein Trainee Award for Excellence in Human Genetics Research (ASHG) in 2012 and was awarded the Postdoctoral Translational Trainee Award from the Association of Chinese Geneticists in America (ACGA) the same year.

Christina obtained ABMGG board certifications in Clinical Molecular Genetics (University of Miami, 2015) and Clinical Biochemical Genetics (Harvard Medical School, 2017). Following her two clinical fellowships, she is excited to circle back to research and put her diverse training to use for the Roya Kabuki Initiative at Boston Children’s Hospital.

 

Xiaoting Ma, Ph.D.

Xiaoting obtained her Ph.D. degree in Pathology from the University of Rochester, School of Medicine and Dentistry, where she conducted research in the Division of Endocrinology and Metabolism. During her graduate study in Rochester, she has completed and published multiple research papers, mainly focused on elucidating hormone signaling pathways and the mechanisms of hormone regulated cancer progression as well as reproductive organ development. Her Ph.D. thesis focused on the identification of paxillin regulated transcriptome in prostate cancer, through which she developed interest in the field of clinical genetics and genomics. She is excited to have joined the Bodamer Lab and the Roya Kabuki Program as a postdoctoral fellow and is dedicated to develop therapeutic strategies for Kabuki Syndrome.

 

Research Coordinators

Tara Daly, M.Sc.

Tara obtained her MSc degree in Community Health Education from Merrimack College in North Andover, MA. She has worked on the development of multiple research initiatives revolving around improving health in pediatrics. During this time, she also acquired her certification as a Health Education Specialist. Tara is excited to bring her passion for helping children and their families to the Kabuki Syndrome Community and Boston Children’s Hospital.

 

 

 

 

 

Research Technicians

Lindsay Julio, B.S.

Lindsay graduated with a B.S. in Biology and a minor in Biotechnology from Tufts University, where she focused on the study of biochemical and molecular biological processes. Her focus in the Bodamer Lab is a project to develop mRNA therapy for Niemann-Pick Type C, a neurodegenerative lysosomal storage disorder caused by a defect in the cholesterol trafficking pathway. She is passionate about translational research, and hopes to help improve the lives of children with rare diseases via her work in the Bodamer Lab.

 

 

 

 

Nicholas Tambini, B.S.

Nick graduated from the University of Connecticut with a B.S. degree in Allied Health Science and a minor in Molecular and Cell Biology. His undergraduate research focused on nutritional biochemistry specifically relating to lipid metabolism in intestinal and immune cells. In the Bodamer Lab, Nick is primarily working on the development of a targeted therapy for Kabuki Syndrome, a rare genetic condition that causes various detrimental effects on the function of multiple organ systems. He is incredibly excited to be involved in translational research with the continuous goal of improving the lives of children with rare diseases.

 

 

Other Team Members

Irene Hsueh, B.A.

Irene graduated with a B.A. in Biology at Boston University. She currently manages the Roya Kabuki Progam’s database and gathers prenatal, pediatric, genetic, and clinical data for each participant for the Roya Kabuki Natural History study.  The goal of the natural history study is to understand the natural trajectory of Kabuki syndrome and to establish a correlation between the genetic mutation and the clinical presentation.

 

 

 

 

Julia Thomann, LICSW

Julia  is the clinical social worker for the Roya Kabuki program. Julia graduated with a BSW from Skidmore College and an MSW from Columbia University School of Social Work. Upon graduating, Julia worked as a therapist providing counseling services to children and adolescents in their homes and communities. She also worked as a therapist in a psychiatric residential treatment center for adolescents in Atlanta, collaborating closely with local and state agencies to provide supportive services.

 

 

 

 

 

Students and Interns

Suraj Shah, B.S.

Suraj graduated from Tufts University with a B.S. in Biochemistry and is currently a medical student at Tufts University School of Medicine. He is an ACMG Summer Scholar intern working in the Bodamer Lab to help test an mRNA therapy for Niemann-Pick type C, a rare lysosomal storage disorder due to faulty cholesterol transport. His interests lie in biochemical genetics and metabolism. Suraj is excited to explore these interests through his work in the Bodamer Lab and hopes to make a positive impact in children and families living with rare diseases.

 

 

Jolean Ashman

 

 

Former Team Members

 

Collaborators