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The Manton Center for Orphan Disease Research at Boston Children's Hospital was created to develop new methods for understanding, diagnosing, and treating rare genetic conditions and to apply this knowledge to make fundamental scientific advances with broad implications for human health.

Manton Center Featured News

Dr. Wojcik and Dr. O’Donnell-Luria

Genome sequencing for rare disease diagnosis

We are so excited to share this work published by Dr. Monica Wojcik, Medical Director of the Manton Center (first author); and Dr. Anne O’Donnell-Luria, Manton Center Associate (senior author).

In this study of 744 families from across the Broad Center for Mendelian Genomics/GREGoR consortium cohort, including cases from the Manton Center and Beggs lab, 29% of cases received a diagnosis by genome sequencing, usually following prior negative exome sequencing. On careful review, 18% of diagnosed families would have been diagnosed by exome reanalysis and 3% by additional methods of copy number variant calling or mitochondrial variant evaluation on prior exome data. The remaining 8% required genome sequencing to identify small or copy-neutral structural variants; coding sequence variants in area of poor coverage; indels; noncoding variants; or tandem repeat expansions.

This work highlights the benefits of pursuing genome sequencing after negative exome sequencing and analysis. Given the falling costs of sequencing and improved analysis available with genome sequencing, the study team proposes that the time has come for a genome sequencing first approach.

Read more about this study and findings in the New England Journal of Medicine.

Fowzan Alkuraya, MD joins our monthly rare disease seminar

The Manton Center enjoyed the opportunity to host Fowzan Alkuraya, MD for our monthly rare disease seminar. Dr. Alkuraya has published hundreds of scientific articles related to novel gene discoveries and rare disease research.  He is a Professor of Human Genetics at Alfaisal University and Chairman of the Department of Translational Genomics at King Faisal Specialist Hospital and Research Center in Riyadh, Saudi Arabia.

six women and two men standing in a row in front of a chalk board

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Hyunyong KohWe are excited to share that Manton Center Fellow, Hyunyong Koh, MD, PhD, published a new article discussing the importance of exome sequencing in children with unexplained epilepsy. Read more about his study and findings.

About The Manton Center

Founded in 2008, the Manton Center was one of the first centers in the world solely devoted to the study of rare diseases. The Manton Center hopes to increase scientific knowledge about rare diseases through supporting patient-focused research, building collaborations within the rare disease community, and funding existing research efforts focused on rare diseases. Through the various research projects, funding and awards, and outreach efforts, The Manton Center facilitates the discovery and development of more effective diagnostic pathways and therapies for rare or unknown conditions.  

Boston Children's Hospital joined in a partnership with The Manton Foundation to create a 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.

A rare, or “orphan” disease is defined as a disease or disorder that affects less than 200,000 people in the United States at any given time. However, the word rare seems somewhat unfitting when we realize that 30 million people in the U.S. are affected by a rare disease. While many people live with these rare or unknown conditions, a lack of scientific knowledge about their underlying causes can often lead patients through a journey complicated by misdiagnosis, poor treatment options, and lack of funding for research and advocacy.

The Manton Center Goals

The Manton Center is a virtual center for clinicians and scientists at Boston Children's Hospital who share a common vision of helping families by improving our understanding and awareness for rare diseases. The goals of this collaboration are 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 enhance interest and support for orphan disease research and care.