曼顿孤儿D中心isease Research|News Archive

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.在这里听。

A new collaboration driving discovery at The Manton Center

曼顿中心（Manton Center）与Inspire（Health for Health，Pfizer Inc.和遗传学研究公司Citizen Genetics）的Inspire合作，以了解有关遗传学如何促进健康状况以及我们对这种基本机制的理解的更多信息。改进的治疗方法。在这里阅读更多about this exciting collaboration known as Patient Forward Access to Clinical and Technological Research (PFACTR).

Newborn DNA sequencing finds actionable disease risks in nearly 10% of enrolled babies
领导的一个团队Alan H. Beggs, PhD, andOzge Ceyhan-Birsoy, PhD of Partners HealthCare and report the comprehensive results of whole-exome sequencing in 159 infants. Their analysis is published in the美国人类遗传学杂志。

清晰未诊断的挑战2015
BOSTON: Nov 10, 2015 — Boston Children’s Hospital announced today at the全球小儿客栈ovation Summit + Awards其国际清晰度未诊断的挑战的结果。在这场基因组学竞争中，来自七个国家的26个注册团队试图解释DNA序列，并向五个家庭提供有关尽管有多次医生就诊，测试和遗传研究的诊断状况的五个家庭的信息。

CLARITY Undiagnosed is the second crowd-sourcing competition hosted by the Manton Center for Orphan Disease Research at Boston Children’s and theDepartment 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:全国儿童医院(Columbus, OH), was awarded $25,000.
• Runners Up: Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA)

Learn more about the CLARITY Undiagnosed Challenge here!

2012年稀有疾病日
2月29日，是一年中最稀有的一天，标志着2012年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医师的重点to raise rare disease awareness.

第一次年度孤儿疾病研讨会于2010年11月16日在Folkman礼堂举行。曼顿中心在这次研讨会的建立中发挥了作用，我们的许多高级科学家介绍了他们在稀有疾病研究中的作用。2010年创新基金收件人之一Mustafa Sahin博士也将展示。

Rare Disease Symposium Flyer

曼顿中心再次与国家罕见疾病组织（NORD）合作，于2010年2月28日认可全国稀有疾病日。诺德and was mentioned on thethe official Rare Disease Day Website。在波士顿儿童医院的主要大厅展示了一个60英尺的链条，其中有350多种罕见疾病的名称，没有持续的临床试验，这是罕见疾病日的一周。

Announcing Partnership with Shire
我们很自豪地宣布夏尔和波士顿儿童之间的一项新合作计划，该计划将提供资金和更多资源，以支持开发稀有疾病的治疗剂。这项合作有望为我们服务的孤儿疾病的人带来新的见解和进步。

有兴趣提交项目的调查人员可以完成2页预启动申请1月21日到期。有关提交的问题可以直接向Nurjana Bachmanin TIDO.

宣布测序飞行员
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凯瑟琳·布朗斯坦与问题。

华尔街日报特征基因合作伙伴关系
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 scientistsIngrid Holm,MD, MPH, Isaac Kohane, MD, PhD,Lou Kunkel, PhD, andKenneth Mandl，医学博士，MPH，并展示我们对发展研究和医学的承诺。

First Human Embryonic Stem Cell Lines Approved
NIH的新闻稿大约是已批准用于NIH资助的研究的13种新系列人类干细胞。在13个单元线中创建了11个戴利实验室。

当牛奶威胁婴儿时
The Boston Globe通过突出显示孤儿疾病研究的相关性Gerard T. Berry博士研究和综合半乳糖血症ence co-sponsored by The Manton Center in August, 2009.

Rules Will Allow Financing for Old Stem Cell Lines
乔治·戴利博士talks about the significance of older stem cell lines being eligible for federally financed research under the Obama administration in纽约时报。

路易·昆克尔（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由Isaac Kohane博士撰写的《新英格兰医学杂志》和肯·曼德尔博士讨论奥巴马政府的电子医疗记录计划

Back to the Future
Dr. Luigi Notarangelo and乔治·戴利博士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 Holmdiscusses the future of gene discovery and Boston Children's Hospital's unique role in applying new research to patient care.

使遗传学计数
Dr. Louis Kunkel is featured in the Vector article discussing The Manton Center's role in gene discovery.

矢量采访乔治·戴利博士
A video interview of乔治·戴利博士讨论对人类胚胎干细胞研究的联邦资金限制的逆转。

Doctors Raise Doubts on Digital Health Data
TheNew York Timesinterviews肯尼斯·曼德尔博士以及艾萨克·科万博士（Isaac Kohane）博士关于如何使用经济刺激资金来支持健康

重新考虑干细胞？科学已经有
乔治·戴利博士被New York Times关于奥巴马总统对干细胞的行动