Manton Center for Orphan Disease Research

The Manton Center is proud to announce our recent awardees! Congratulations to all!

2018 Manton Center Fellowships:

Mehdi Pirouz, PhD
Mentor: Richard Gregory
Project title: Role of Dis3l2 Exoribonuclease in the Pediatric Perlman Syndrome

Sara Bizzotto, PhD
Mentor: Christopher Walsh, MD, PhD
Project title: Exploring new genetic causes and pathological mechanisms of epileptic focal cortical dysplasia

Zhongjie Fu, PhD
Mentor: Lois Smith, MD, PhD
Project title: FGF21 protects against retinal degeneration in retinitis pigmentosa

Neha Nagpal, PhD
Mentor: Suneet Agarwal, MD, PhD
Project title: Mechanisms and therapeutic targeting of non-coding RNA dysregulation in telomere diseases

2018 Pilot Project Awards:

Boxun Zhao, PhD
Mentor: Alice Lee, PhD and Tim Yu, MD, PhD
Project title: Pathogenic structural variant identification and splicing defect correction

Lucia Ambrosio, MD, PhD
Mentor: Anne Fulton, MD
Project title: Translational Read-Through Inducing Drugs (TRIDS) to treat Inherited Retinal Disorders (IRDs)

The Manton Center is currently accepting LOI applications for funding of MD and/or PhD research fellows.

The Manton Center for Orphan Disease Research at Boston Children's Hospital was created to develop new methods for understanding, diagnosing and treating unusual diseases and to apply this knowledge to make fundamental scientific advances with broad implications for human health. To reach these goals, Boston Children's Hospital joined in a partnership with the Manton Foundation to create the world's first and only center devoted to understanding "orphan diseases" - genetic syndromes, immune system problems, errors of metabolism, neuromuscular disorders and other little-noticed but scientifically important disease processes. In our center, experts committed to answering critical questions posed by puzzling and difficult diseases can collaborate, multiplying the impact of key medical discoveries and helping children and families facing profound medical challenges.

The Manton Center Goals

The Manton Center will be the home for physicians and scientists who share a common vision. The goals of this collaboration will be to:

  • Unlock the mysteries of orphan diseases in order to develop better diagnostic tests and design new treatments and cures
  • Discover fundamental biological principles that have broad applications and can lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes and other major health problems
  • Train a new generation of investigators who will infuse creative energy into the battle against orphan diseases
  • Disseminate The Manton Center’s findings among lay and medical/ scientific communities locally, nationally and globally to spur interest and support for orphan disease research and care