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.
Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA)
Learn more about the CLARITY Undiagnosed Challenge here!
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. Read more at Dr. Alan Beggs’, the director of The Manton Center, blog published in Vector. Dr. 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.
Rare Disease Symposium Flyer
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 indiviudals 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.
December 2, 2009
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
July 6, 2009
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
March 26, 2009
Back to the Future
Dr. Luigi Notarangelo and Dr. George Daley are featured in a Vector Online article discussing the clinical and research applications of stem cells
Searching for Strength: One gene at a time
Vector Online 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 Online 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
March 25, 2009
Rethink Stem Cells? Science Already Has
Dr. George Daley was quoted by the New York Times about President Obama's action on stem cells
March 9, 2009
Research Named Number 1 of 2008
Research by Dr. George Daley was included among The Boston Globe's "Best of 2008" breakthroughs
December 29, 2008
NECN talks with patient Andy Trevino's parents and Dr. Alan Beggs about orphan disease research
December 2, 2008
Announcing The Manton Center for Orphan Disease Research
Boston Children's Hospital Press Release
November 12, 2008