Archive for genetics and genomics
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 The FDA recently released a draft guidance on testing custom drugs such as Mila’s in patients.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 The FDA recently released a draft guidance on testing custom antisense oligonucleotides (ASOs) in patients.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?
Endocrine-oncology treatment helps teen with rare genetic condition
Felicia Walbridge has long been interested in biomedical engineering and plans on majoring in the field during college. Until recently, the teenager’s experience in this area was limited primarily to reruns of the TV show “Grey’s Anatomy.” Then, with little warning, Walbridge became the star of her very own medical drama — complete with a ... Read More about Endocrine-oncology treatment helps teen with rare genetic condition
Presidential awardee explores epigenetics via slime molds, worms, and more
Pretty much all of your cells have the same DNA code. Yet they come in an astonishing number of forms. Some cells contract so that your heart can beat or your muscles flex. Others have jobs in your immune system, tuned to recognize different threats. And cells can change their behavior, altering their metabolism for ... Read More about Presidential awardee explores epigenetics via slime molds, worms, and more
Single-cell sequencing reveals glioblastoma’s shape-shifting nature
Glioblastoma, a cancer that arises in the brain’s supporting glial cells, is one of the worst diagnoses a child can receive. The grade IV, highly malignant tumor aggressively infiltrates healthy brain tissue, and most children die of the disease within one to two years of diagnosis, similar to adults. “The current approach is surgical removal, ... Read More about Single-cell sequencing reveals glioblastoma’s shape-shifting nature