A surgeon’s last-minute trip to Sri Lanka reduces children’s wait for needed heart repair
Last year, Dr. Christopher Baird got an offer he couldn’t refuse — something that happens often as he travels the world to demonstrate the heart surgery techniques he has learned and developed at Boston Children’s Hospital. At a heart surgery symposium in India, Dr. Baird had just performed a complex type of aortic valve reconstruction ... Read More about A surgeon’s last-minute trip to Sri Lanka reduces children’s wait for needed heart repair
Broken signals: Things you may not know about nerve injury
When Dr. Andrea Bauer talks about nerve injuries, she talks about phone cords. A damaged phone cord transmits staticky or broken sounds, or no sound at all. Similarly, peripheral nerve injuries (injuries that affect the arms, hands, legs, and feet) disrupt signals to and from the brain, causing numbness, loss of sensation, and lost function. ... Read More about Broken signals: Things you may not know about nerve injury
Here’s how genetic vision testing can help your family
At least 600 of the roughly 20,000 genes in the human body are needed for normal eyesight. Changes in those genes can lead to many eye conditions, including glaucoma, cataracts, and inherited retinal disorders. If your child has an inherited retinal disorder, they might benefit from genetic testing. It can help determine a diagnosis and how their ... Read More about Here’s how genetic vision testing can help your family
Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More about Rethinking cerebral arachnoid cysts through genomics
Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More about Research offers guidance on genetic testing for cerebral palsy
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More about A path forward for genetic testing in unexplained epilepsy