Archive for genetics and genomics
A master regulator of kidney health?
End-stage kidney disease often begins with injury to podocytes. These highly specialized cells are a critical part of the glomeruli, clusters of capillaries that serve as the filtration units in our kidneys’ tightly-packed nephrons. As their name suggests, podocytes extend tiny foot processes to intermingle with the capillaries and filter the blood, maintaining the proper ... Read More
Diving into the dark side of ependymoma
Mariella Filbin, MD, PhD, a neuro-oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, is driven by a desire to find new therapies for some of the hardest-to-treat pediatric brain tumors. At the core of her work is an effort to uncover the events that shape tumor development. Key takeaways:· Aggressive ependymoma tumors are stuck ... Read More
Coming to Boston Children’s during COVID-19: Keith’s story
At just 4 years old, Keith Bennett has spent more time in the hospital than most kids ever will. Diagnosed with a chronic kidney disease called nephrotic syndrome, he visits Boston Children’s Hospital several times a week — and has continued to do so throughout the COVID-19 pandemic. Now, as Boston Children’s begins to move ... Read More
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
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
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
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
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
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
Against all odds: Mila’s unique mutation, and her own custom drug
As a baby and toddler, Mila was healthy, active, and — in some ways — even advanced for her age. She began speaking before she turned 1, went skiing for the first time at age 2, and was a fearless climber on furniture and rock walls. However, after she turned 3, Mila developed a strange ... Read More