Archive for genetics and genomics
Boston Children’s Hospital leads national study on pediatric COVID-19 and MIS-C
Why are children largely spared from COVID-19 — and why do a few become extremely sick? To find out, Boston Children’s Hospital launched a national study in April to perform real-time surveillance at more than 35 U.S. children’s hospitals. In May, when multi-system inflammatory syndrome in children (MIS-C) began appearing, that still-mysterious condition was added ... Read More about Boston Children’s Hospital leads national study on pediatric COVID-19 and MIS-C
Tracking an organism’s development, cell by cell
A new mouse model allows scientists to track every cell in the body — from the embryo stage until adulthood. The system is the first of its kind and should yield a greater understanding of development, aging, and disease. Scientists described it last week in the journal Cell. “The dream of many developmental biologists for ... Read More about Tracking an organism’s development, cell by cell
Going into science: Women scientists at Boston Children’s offer advice to girls
In honor of the International Day of Women and Girls in Science (February 11), we invited women scientists at all stages of their careers at Boston Children’s Hospital to share their scientific agendas. Here is some of what they had to say. The scientists also offered their advice for girls interested in entering the field. ... Read More about Going into science: Women scientists at Boston Children’s offer advice to girls
Ava’s journey with arrhythmogenic cardiomyopathy
Claire Poole never thought a 10-year-old could have a heart condition. So when her daughter, Ava, slumped against the wall exhausted and complaining of arm pain one Sunday in 2012, Claire assumed she had overextended herself at a sleepover the previous night. “When we got into the car, Ava turned grey and had trouble breathing,” ... Read More about Ava’s journey with arrhythmogenic cardiomyopathy
Diving deep: Understanding skeletal conditions with fish models
From fragile ice fish deep in the Antarctic Ocean to flying fish gliding above the Caribbean sea, fish have evolved a fascinating variety of skeletal traits. These traits not only help them adapt to their environments, they are also providing genetic insights into rare human skeletal disorders. Fish are not as genetically different from us ... Read More about Diving deep: Understanding skeletal conditions with fish models
Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
In honor of Genetic Counselor Awareness Day, we sat down with Beth Rosen Sheidley, MS, CGC, co-director of the Epilepsy Genetics Program at Boston Children’s Hospital, to learn about the field and practice of genetic counseling. What is the role of a genetic counselor? There are about 30 genetic counselors at Boston Children’s across many different departments and ... Read More about Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
Against all odds: Mila’s unique mutation, and her own custom drug
Ed. note: Mila passed away in February 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. The FDA recently released a draft guidance on testing custom drugs such as Mila’s in patients. As a baby and toddler, Mila was healthy, active, and — in some ways ... Read More about Against all odds: Mila’s unique mutation, and her own custom drug
Shooting for the moon: From diagnosis to custom drug, in one year
Ed. note: Mila passed away in February 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. The FDA recently released a draft guidance on testing custom antisense oligonucleotides (ASOs) in patients. One weekend in January 2017, Timothy Yu, MD, PhD, was relaxing at home when his ... Read More about Shooting for the moon: From diagnosis to custom drug, in one year
Exploring an unsung part of the brain: the choroid plexus
If you’ve never heard of the choroid plexus, you’re not alone. In fact, few neuroscientists know much about this part of the brain. In the words of the late comedian Rodney Dangerfield, the choroid plexus “don’t get no respect.” But that’s beginning to change, thanks in part to Maria Lehtinen, PhD, who has made the ... Read More about Exploring an unsung part of the brain: the choroid plexus
Which genetic syndromes can increase a child’s risk of cancer?
Inherited cancers account for at least 5 to 10 percent of all pediatric cancers. The same advances in technology that have enabled scientists to decode the human genome now allow doctors to determine when a child has been born with an error (mutation) in a specific gene that puts them at increased risk of childhood ... Read More about Which genetic syndromes can increase a child’s risk of cancer?