Anne O'Donnell-Luria, MD, PhD of Boston Children’s and the Broad Institute was among a squad of genetic detectives that tracked down the unique genetic cause of an ultra-rare disorder affecting three children. The culprit — loss of a chunk of DNA in a gene called CHASERR — was found in a noncoding part of the genome. Read more in this story from the Broad Institute 👇
Boston Children's Hospital
Hospitals and Health Care
Boston, MA 159,197 followers
Where the world comes for answers.
About us
Boston Children's Hospital is a 404-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Boston Children's offers a complete range of health care services for children from birth through 21 years of age. (Our services can begin interventions at 15 weeks gestation and in some situations we also treat adults.) We have approximately 25,000 inpatient admissions each year and our 200+ specialized clinical programs schedule 557,000 visits annually. Last year, the hospital performed more than 26,500 surgical procedures and 214,000 radiological examinations. Our team of physicians and nurses has been recognized by a number of independent organizations for overall excellence, and we're proud to share some notable examples with you here.
- Website
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http://www.childrenshospital.org
External link for Boston Children's Hospital
- Industry
- Hospitals and Health Care
- Company size
- 10,001+ employees
- Headquarters
- Boston, MA
- Type
- Nonprofit
- Founded
- 1869
- Specialties
- Research, Patient Services, Technology, Pediatrics, Hospital, and Innovation
Locations
Employees at Boston Children's Hospital
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Andreas Ramos
Author of 22+ books on digital marketing | Adjunct Professor | Teach university-level AI-powered digital marketing at Omnes, CSTU, DMAnc | Graduate,…
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Chris Newell
Senior Director Organizational Development at Boston Children's Hospital
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Walter Pressey
Independent Director, Forsyth Institute
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Michael Edson
IT Manager, Virtual Care and DH Emerging Tech
Updates
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More support for implementing genome sequencing as a first-line test for pediatric epilepsy, since it can make genetic diagnoses when exome sequencing cannot. The researchers believe the diagnostic yield, 7.2% in their study cohort, will increase as more is learned about noncoding regions of the genome. More from Alissa D’Gama et al. in JAMA Neurology 👇
Genome Sequencing After Exome Sequencing in Pediatric Epilepsy
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In honor of Rett Syndrome Awareness Month, patients, families, and staff from Boston Children’s gathered last week for the 14th Annual Blue Sky Day. Sponsored by Rett Syndrome Angels, Blue Sky Day honors children and adults with Rett Syndrome – a rare genetic disorder that causes a loss of spoken language and motor skills, as well as behavioral and neurological problems. During Blue Sky Day, families were recognized and celebrated as they ascended on the steps on the Quad of Harvard Medical School! 💜 Take a look at some special photos from the event. To learn more about Rett Syndrome and Boston Children’s Rett Syndrome Program, please visit: http://ms.spr.ly/6044WHVcM.
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What if some of what we thought we knew about DHG-H3G34 turned out to be wrong? New research led by our own Mariella Filbin, MD, PhD, finds that the cellular makeup of this deadly type of brain tumor differs from that of other gliomas. The discovery “opens up a whole new array of potential drug targets,” she says — a strategy recently tested in a young patient with a high recurrent DHG-H3G34 tumor. 👇
First-of-their-kind findings turn conventional wisdom about diffuse hemispheric glioma on its head - Boston Children's Answers
https://answers.childrenshospital.org
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Congratulations to two of our Benderson Family Heart Center leaders for each receiving the American Heart Association's highest honor. 👏 Cardiologist Jane Newburger and cardiac surgeon Pedro del Nido were elected as 2024 Distinguished Scientists, recognizing their many achievements in cardiovascular care and research. AHA recognizes only six heart specialists a year, so it’s a remarkable distinction that two Boston Children’s doctors received the honor together. Thank you, Drs. del Nido and Newburger, for your many years of dedication to improving the lives of our patients.
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Congratulations to Hao Wu, PhD, in our Program in Cellular and Molecular Medicine! She was named to the prestigious National Academy of Medicine for her discovery of signalosomes, central organizing structures that have changed our understanding of innate immune signaling. Her work could lead to new therapeutic strategies for inflammation and cancer. http://ms.spr.ly/6049WEALU
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Inspired by research on cognitive deficits in neglected orphans in Romania, Takao Hensch and his colleagues wanted to understand the brain circuitry behind the deficits, particularly attention deficits. Their work, featured on the cover of Science Translational Medicine, ties together stress, sleep loss, and attention deficits; uncovers some underlying brain biology/treatment opportunities; and reveals a puzzling sex-specific effect. 👇
Attention deficits: Early adversity, sleep, and dopamine - Boston Children's Answers
https://answers.childrenshospital.org
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Two studies in The New England Journal of Medicine report exciting long-term follow-up results of gene therapy for cerebral adrenoleukodystrophy (CALD), the degenerative neurological disease portrayed in the movie “Lorenzo’s Oil”: 80 percent of boys were free of major disabilities. But they also highlight a risk: About 10 percent of the boys developed cancer, and one passed away from complications of cancer treatment. Our care team is helping families weigh the risks and benefits, while our researchers seek ways to improve safety. 👇
Gene therapy for adrenoleukodystrophy: Risks and benefits detailed - Boston Children's Answers
https://answers.childrenshospital.org
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Congratulations to our own Wendy Chung for this recognition!
🎉 Exciting news! Dr. Wendy Chung, Simons Searchlight principal investigator, has received the RARE Champion in Health Equity award at the Global Genes RARE Champions of Hope Ceremony! Her dedication to supporting rare genetic neurodevelopmental disorder communities for decades is truly inspiring and we are proud to have her as our esteemed leader. Congratulations, Dr. Chung! 👏💙 Read the full announcement: https://lnkd.in/ecpsteYc Congratulations to all the nominees and recipients! 👏 #HealthEquity #RareDisease #CareForRare #RareDiseaseChampion #GlobalGenes #RareDiseaseChampion
Affiliated pages
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Immersive Design Systems at Boston Children’s Hospital
Hospitals and Health Care
Boston, Massachusetts
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Boston Children's Hospital Trust
Hospitals and Health Care
Boston, Massachusetts
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Center for Educational Excellence & Innovation
Hospitals and Health Care
BOSTON, MA
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Boston Children's Research
Hospitals and Health Care