每月Dise曼顿中心的罕见ase Seminar |Overview
The Monthly Manton Center Rare Disease Seminar offers a popular platform for Boston Children's Hospital investigators and trainees to share their research projects and interests with their colleagues. These presentations and discussion facilitate Boston Children's networking, collaboration, and input on research topics related to rare diseases. These seminars have transitioned to being hosted by Zoom, which has expanded the audience and enhanced the opportunities to connect, even when working remotely. Seminars occur monthly on the second Wednesday at 1pm EST. Please emailmanton.center@childrens.harvard.eduif you would like to be added to the meeting distribution list or to suggest a future speaker.
2020-21 calendar
日期
Seminar information
Dongwon Lee, PhD
2020年曼顿中心恩德研究学者研究助理，波士顿儿童医院肾脏科学
哈佛医学院儿科讲师
Research Focus:使用计算方法发现与疾病相关的遗传变异，并特别关注转录调节机制
Past seminars
日期
Seminar information
医学博士Vijay Sankaran博士
Interim Chief, Division of Hematology/Oncology & Lodish Family Chair at Boston Children's Hospital
Attending Physician, Dana-Farber/Boston Children's Cancer & Blood Disorders Center
Research Focus:Understand how genetic variation alters human blood cell production or hematopoiesis in health and disease
Amy O’Connell, MD, PhD
2020 Manton Center Pilot Project获奖者
Attending Physician, Division of Newborn Medicine, Boston Children’s Hospital
哈佛医学院儿科讲师
Research Focus:Intestinal stem cell biology and immune maturation in former preterm infants
Matthew Warman, MD
波士顿儿童医院的骨科研究实验室主任和骨科外科教授
Harriet M. Peabody Professor of Orthopedic Surgery, Harvard Medical School
Research Focus:Understanding biologic pathways that affect the patterning, growth, and maintenance of the skeletal system
Siddharth Srivastava, MD
Attending Physician, Department of Neurology, Boston Children’s Hospital
Instructor of Neurology, Harvard Medical School
Research Focus:Gene discovery and precision medicine in cerebral palsy and other neurodevelopmental conditions
医学博士马特·桑普森（Matt Sampson）
Warren E. Grupe Chair in Pediatric Nephrology, Boston Children’s Hospital
Research Focus:Genomic basis of rare pediatric kidney diseases using computational genomics strategies
Annapurna (Ann) Podouri, MD, MPH
Associate Professor of Neurology, Harvard Medical School
神经病学助理，F.M。神经病学系柯比神经生物学中心
Director, Epilepsy Genetics Program, Boston Children’s Hospital
Research Focus:遗传癫痫 - 人类遗传学和功能建模
Eunjung (Alice) Lee, PhD
Assistant Professor of Pediatrics, Department of Genetics & Genomics, Boston Children’s Hospital
Research Focus:Repetitive DNA, particularly transposable elements, and somatic mutations in human diseases using genomic technologies
Shira Rockowitz, PhD
Data Science Team Lead, Research Computing, Boston Children’s Hospital
Research Focus:Building infrastructure for genomic analysis and services for bioinformatic support
马萨诸塞州综合医院基因组医学中心精密医学副主任
Cardiologist, Corrigan Minehan Heart Center
Research Focus:结合人类遗传学，传统流行病学和生物信息学方法，以了解心脏代谢特征
Manton Center Pilot Project Awardee
Instructor, Ophthalmology, Boston Children’s Hospital
导师：安妮·富尔顿
Research Focus:Utilizing read-through therapy to identify compounds that may affect inherited retinal disorders
此页面最后更新于2020年12月10日。