News Archive | Overview
Please click on the links below to learn more about the exciting articles written about The Manton Center and its research!
Celebrate Rare Disease Day at BCH!
Stop by the hospital lobby at BCH Main Campus on February 28th from 1-3pm to see members of the Manton Center for Orphan Disease Research and the NORD Center of Excellence for Rare Disorders. We would love to see you and there will be crafts, raffles, photo booth, and more!
The NORD Center of Excellence at Boston Children’s Hospital will be hosting additional events at Boston Children’s Hospital Main Campus for patients, families, clinicians, and researchers. The fun-filled agenda can be found here.
A podcast featuring Dr. Beggs that explores the role of whole-genome sequencing in rare disease diagnosis
The Manton Center Director, Dr. Alan Beggs, join colleagues from Rady Children's Hospital, Variantyx, and Psomagen to discuss the impact of genome sequencing on the diagnostic odyssey experienced by many patients with rare diseases. Listen here.
A new collaboration driving discovery at The Manton Center
The Manton Center is teaming up with Inspire, a social network for health, Pfizer Inc., and Citizen Genetics, a genetics research company, to learn more about how genetics contributes to health conditions and how improving our understanding of this underlying mechanism can lead to improved treatments. Read more here about this exciting collaboration known as Patient Forward Access to Clinical and Technological Research (PFACTR).
The Manton Center transitioned to a remote-work environment
Despite global disruptions introduced by the pandemic, the Manton Center seamlessly transitioned to a mostly remote environment to continue our research and discovery efforts. Several months before Boston Children’s Hospital implemented its e-work policies, the Manton Center Gene Discovery Core (GDC) launched its electronic consenting protocol, facilitating remote activities. With the help of the Information Services Department, participants can now access, complete, and sign the consent form online. This service not only helped streamline the consenting process, but also enabled the GDC to rapidly enroll new cases during the height of the pandemic. Other highlights from the year include funding seven projects related to rare disease research at Boston Children's, enrolling the 2,000th family into the GDC study, and leading efforts on several publications that have expanded knowledge about rare diseases and the methods used to find diagnoses.
Newborn DNA sequencing finds actionable disease risks in nearly 10% of enrolled babies
A team led by Alan H. Beggs, PhD, and Ozge Ceyhan-Birsoy, PhD of Partners HealthCare and report the comprehensive results of whole-exome sequencing in 159 infants. Their analysis is published in the American Journal of Human Genetics.
CLARITY Undiagnosed Challenge 2015
BOSTON: Nov 10, 2015 — Boston Children’s Hospital announced today at the Global Pediatric Innovation Summit + Awards the results of its international CLARITY Undiagnosed Challenge. In this genomics competition, 26 registered teams from seven countries sought to interpret DNA sequences and provide information to five families about conditions that had eluded diagnosis despite multiple doctor visits, tests and genetic studies.
CLARITY Undiagnosed is the second crowd-sourcing competition hosted by the Manton Center for Orphan Disease Research at Boston Children’s and the Department of Biomedical Informatics (DBMI) at Harvard Medical School. Submissions were evaluated by an independent, diverse panel of judges, including medical geneticists, computer scientists, bioinformaticians and clinical experts. Twenty-one of the original 26 teams ultimately completed the challenge.
- First Place Team: Nationwide Children’s Hospital (Columbus, OH), was awarded $25,000.
- Runners Up: Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA)
Rare Disease Day 2012
February 29th, the rarest day of the year, marked 2012's Rare Disease Day. The Manton Center commemorated the day by circulating several surprising statistics about how common rare diseases really are. Dr. Alan Beggs recently appeared on Massachusetts Medical Society’s Physician Focus to raise rare disease awareness.
The first annual Orphan Disease Symposium was held on November 16, 2010 in the Folkman Auditorium. The Manton Center played a role in the establishment of this symposium, with many of our Senior Scientists presenting on their role in rare disease research. Dr. Mustafa Sahin, one of the 2010 Innovation Fund recipients, will also be presenting.
The Manton Center partnered again with the National Organization for Rare Disorders (NORD) to recognize National Rare Disease Day on February 28, 2010. The Manton Center was acclaimed as a host of a featured event by NORD and was mentioned on the the official Rare Disease Day Website. A 60 foot chain featuring the names of over 350 rare diseases with no ongoing clinical trials was displayed in the Boston Children's Hospital Main Lobby for the week leading up to Rare Disease Day.
Announcing Partnership with Shire
We are proud to announce a new collaboration program between Shire and Boston Children’s, which will provide funding and additional resources to support development of therapeutics for rare diseases. This collaboration will hopefully lead to new insights and advances for the individuals with orphan disease we serve.
Investigators who are interested in submitting a project can complete the 2 page preproposal application due January 21st. Questions about submissions can be directed to Nurjana Bachman in TIDO.
Announcing Sequencing Pilot
This week, Boston's Children's Hospital announced the launch of the new sequencing pilot project for clinical or research use. This initiative will allow for Children's Investigators with approved IRB protocols to submit samples for whole genome sequencing or exome sequencing. Please see the application for more details. Contact Catherine Brownstein with questions.
Wall Street Journal Features Gene Partnership
The Wall Street Journal featured the Gene Partnership (GP), the infrastructure of the Gene Discovery Core (GDC), in a lengthy and in-depth article that highlighted the innovative nature of the program. The project is led by GDC scientists Ingrid Holm, MD, MPH, Isaac Kohane, MD, PhD, Lou Kunkel, PhD, and Kenneth Mandl, MD, MPH, and showcases our commitment to advancing research and medicine.
First Human Embryonic Stem Cell Lines Approved
The NIH press release about the 13 new lines of human embyonic stem cells which have been approved for use in NIH-funded research. Eleven of the 13 cell lines were created in the Daley laboratory.
When Milk Threatens Babies
The Boston Globe discusses the relevance of orphan disease research by highlighting Dr. Gerard T. Berry's research and the comprehensive galactosemia conference co-sponsored by The Manton Center in August, 2009.
Rules Will Allow Financing for Old Stem Cell Lines
Dr. George Daley talks about the significance of older stem cell lines being eligible for federally financed research under the Obama administration in The New York Times.
Louis Kunkel, PhD, chief of the Division of Genetics and a Howard Hughes Medical Investigator, was recently awarded the $250,000 March of Dimes Prize in Developmental Biology. Lou identified the gene and protein dystrophin, which is mutated in boys with Duchenne/Becker muscular dystrophy. The award has been awarded annually since 1996 to investigators whose research has profoundly advanced the science that underlies the understanding of birth defects.
George Daley, MD, PhD, associate chief and director of Pediatric Stem Cell Transplantation, was recently awarded the E. Mead Johnson Award from the American Pediatric Society and Society for Pediatric Research. The award, given since 1939, honors clinical and laboratory research achievements in pediatrics and is considered the most prestigious award in pediatric research.
No Small Change for the Health Information Economy
The Wall Street Journal features The New England Journal of Medicine article written by Dr. Isaac Kohane and Dr. Ken Mandl discussing the Obama administration's plans for electronic healthcare records
Back to the Future
Dr. Luigi Notarangelo and Dr. George Daley are featured in a Vector article discussing the clinical and research applications of stem cells.
Searching for Strength: One gene at a time
Vector describes Dr. Alan Beggs' work on congenital myopathies.
Genetics for the people
Dr. Ingrid Holm discusses the future of gene discovery and Boston Children's Hospital's unique role in applying new research to patient care.
Making genetics count
Dr. Louis Kunkel is featured in the Vector article discussing The Manton Center's role in gene discovery.
Vector interviews Dr. George Daley
A video interview of Dr. George Daley discussing the reversal of federal funding restrictions on human embryonic stem cell research.
Doctors Raise Doubts on Digital Health Data
The New York Times interviews Dr. Kenneth Mandl and Dr. Isaac Kohane about how economic stimulus money can be used to support health IT
Rethink Stem Cells? Science Already Has
Dr. George Daley was quoted by the New York Times about President Obama's action on stem cells
Research Named Number 1 of 2008
Research by Dr. George Daley was included among The Boston Globe's "Best of 2008" breakthroughs.
NECN talks with patient Andy Trevino's parents and Dr. Alan Beggs about orphan disease research.
Announcing The Manton Center for Orphan Disease Research
Boston Children's Hospital Press Release