The Manton Center | Monthly Rare Disease Seminar

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 email if you would like to be added to the meeting distribution list or to suggest a future speaker.

2020-21 calendar


Seminar information

January 13, 2021

Dongwon Lee, PhD  
2020 Manton Center Endowed Scholar Research Associate, Nephrology, Boston Children's Hospital
Instructor in Pediatrics, Harvard Medical School
Research Focus: Discovering disease-associated genetic variants using computational approaches with a specific focus on transcriptional regulatory mechanisms

Past seminars


Seminar information

December 9, 2020

Vijay Sankaran, MD, PhD
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

November 11, 2020

Amy O’Connell, MD, PhD
2020 Manton Center Pilot Project Awardee
Attending Physician, Division of Newborn Medicine, Boston Children’s Hospital
Instructor of Pediatrics, Harvard Medical School
Research Focus: Intestinal stem cell biology and immune maturation in former preterm infants

October 14, 2020

Matthew Warman, MD
Director of Orthopedic Research Laboratories & Professor of Orthopedic Surgery at Boston Children's Hospital
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

September 9, 2020

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

July 8, 2020

Matt Sampson, MD
Warren E. Grupe Chair in Pediatric Nephrology, Boston Children’s Hospital
Research Focus: Genomic basis of rare pediatric kidney diseases using computational genomics strategies

June 10, 2020

Annapurna (Ann) Podouri, MD, MPH
Associate Professor of Neurology, Harvard Medical School
Associate in Neurology, F.M. Kirby Neurobiology Center, Department of Neurology
Director, Epilepsy Genetics Program, Boston Children’s Hospital
Research Focus: Genetic epilepsies — human genetics and functional modeling

May 13, 2020

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

April 8, 2020

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

March 11, 2020
Amit Khera, MD
Associate Director, Precision Medicine Unit, Center for Genomics Medicine, Massachusetts General Hospital
Cardiologist, Corrigan Minehan Heart Center
Research Focus: Combining human genetics, traditional epidemiology, and bioinformatics approaches to gain insights into cardiometabolic traits
February 12, 2020
Lucia Ambrosio, MD, PhD
Manton Center Pilot Project Awardee
Instructor, Ophthalmology, Boston Children’s Hospital
Mentor: Anne Fulton
Research Focus: Utilizing read-through therapy to identify compounds that may affect inherited retinal disorders


This page was last updated December 10, 2020.