Blog | Page 32 of 159 | Boston Children's Answers

Research aims to pinpoint genetic connection between autism and heart disease

Posted on October 5, 2023 by Albert McKeon | Basic/Translational, Research

Tags: autism research, autism spectrum disorder, cardiac neurodevelopment, cardiac research, congenital heart defect, genetics and genomics, heart, heart center, neurology

Cardiology and neurodevelopmental researchers have more questions than answers about the possible genetic links between congenital heart disease (CHD) and autism spectrum disorder (ASD). A study that’s underway at Boston Children’s aims to pin down those elusive answers by taking a close look at the genetics of children with neurodevelopment and cardiovascular conditions. The researchers want to see ... Read More

Tagged: autism research, autism spectrum disorder, cardiac neurodevelopment, cardiac research, congenital heart defect, genetics and genomics, heart, heart center, neurology

Bringing equity to genomic sequencing in newborns: BabySeq 2.0

Posted on October 4, 2023 by Nancy Fliesler | Clinical Care, Research

Tags: genetics and genomics, health equity, newborn medicine, well child care

Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended “heel stick” testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for fewer. What if newborns could instead have their entire genome sequenced at birth, with the results shared and acted on ... Read More

Tagged: genetics and genomics, health equity, newborn medicine, well child care

Here’s how genetic vision testing can help your family

Posted on October 3, 2023 by Albert McKeon | Specialty Care

Tags: blindness, gene therapy, genetics and genomics, ophthalmology

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

Tagged: blindness, gene therapy, genetics and genomics, ophthalmology

‘It’s worth it’: Dianna finds support in managing her chronic pain

Posted on September 27, 2023 by Jessica Cerretani | Patient Stories

Tags: pain

For Dianna Aguiar, 18, playing tennis, practicing yoga, and going for walks with her dog aren’t just fun ways to stay active. They’re powerful proof of how far she’s come in her journey with chronic pain. Although Dianna has had juvenile arthritis since she was a child, she began experiencing new back and hip pain ... Read More

Tagged: pain

From pain to purpose: An update on Dylan’s traumatic brain injury

Posted on September 26, 2023 by Dylan Keusch | Patient Stories

Tags: brain injury, cerebrovascular surgery and interventions center, neuroscience, neurosurgery, traumatic brain injury

We first introduced you to Dylan four years ago, when a traumatic brain injury led him to the Department of Neurosurgery for care and instilled in him a love of medicine. We caught up with the college senior this summer to see where life has taken him since he started an internship with the team ... Read More

Tagged: brain injury, cerebrovascular surgery and interventions center, neuroscience, neurosurgery, traumatic brain injury

This two-handed robot goes deep into the brain

Posted on September 22, 2023 by Nancy Fliesler | Research, Therapeutics/Diagnostics/Devices

Tags: brain tumor, neurosurgery, robotics, surgery

Robots have become common partners in the OR, enabling surgeons to operate through small incisions and manipulate tools endoscopically, avoiding invasive open surgery. But in neurosurgery, robots’ capabilities have been more limited. While they can assist with relatively simple procedures like inserting an electrode, more invasive and complex operations like removing a tumor still require ... Read More

Tagged: brain tumor, neurosurgery, robotics, surgery

Calm through the storm: Connor’s ulcerative colitis journey

Posted on September 21, 2023 by Veronica Giarla | Patient Stories

Tags: complex care, gastroenterology, inflammatory bowel disease, nutrition, rare disease, surgery, ulcerative colitis

When you meet Connor today, he’s a confident 13-year-old who is incredibly laid back when he speaks about his complex medical condition. This school year, he plans on playing basketball and running track. “I like hanging out with my friends and traveling — now I can do all these things without being in pain.” However, ... Read More

Tagged: complex care, gastroenterology, inflammatory bowel disease, nutrition, rare disease, surgery, ulcerative colitis

Defying the odds: Cruise’s triumph against cavernous malformations and debilitating headaches

Posted on September 20, 2023 by Katie Paradis | Patient Stories

Tags: brain health, cavernous malformation, cerebrovascular surgery and interventions center, headaches

As a toddler, Cruise — now 13 — faced a rare cancer diagnosis that came with an 11 percent chance of survival. But with his trademark resilience and strength of spirit, Cruise defied the daunting odds and beat his cancer. The battle left its mark though — in the form of cavernous malformations in his ... Read More

Tagged: brain health, cavernous malformation, cerebrovascular surgery and interventions center, headaches

Does cannabis affect surgical outcomes? We need more data.

Posted on September 13, 2023 by Joanne Barker | Clinical, Research

Tags: informatics, orthopedics, spine division, surgery

After alcohol, marijuana is the most commonly used recreational substance among U.S. adults and adolescents. Up to 22 million Americans 12 or older use cannabis. In a 2022 survey by the National Institute on Drug Abuse, 0.7 percent of 8th graders, 2.1 percent of 10th graders, and 6.3 percent of 12th graders reported using marijuana ... Read More

Tagged: informatics, orthopedics, spine division, surgery

A global take on rare disease research: Maya Chopra, MBBS, FRACP

Posted on September 12, 2023 by Gina Mantica | Clinical, Research

Tags: genetics and genomics, intellectual disability, neurology, neuroscience, rare disease, research rising stars

Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of ... Read More

Tagged: genetics and genomics, intellectual disability, neurology, neuroscience, rare disease, research rising stars