Archive for neurology
Gene therapy for adrenoleukodystrophy: Studies find both risks and benefits
Cerebral adrenoleukodystrophy (CALD), portrayed in the film Lorenzo’s Oil, is a devastating disorder caused by a mutation on the X chromosome. Boys with CALD progressively lose their neurologic function and, if untreated, eventually become non-responsive. Most pass away within 10 years of diagnosis. Until recently, the only treatment for CALD was a blood (hematopoietic) stem ... Read More about Gene therapy for adrenoleukodystrophy: Studies find both risks and benefits
Humble cells in a little-known organ manage brain inflammation
Deep in the brain, sheets of tissue known as the choroid plexus produce cerebrospinal fluid (CSF) and act as a protective barrier between the brain and CSF. But the lab of Maria Lehtinen, PhD, at Boston Children’s Hospital has shown that the little-known choroid plexus does much more. For example, it secretes factors that promote ... Read More about Humble cells in a little-known organ manage brain inflammation
A deeper understanding of inflammatory pain could reveal new solutions
Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen are the main go-to for inflammatory pain caused by wounds, infection, sunburn, arthritis, and other triggers. NSAIDs work pretty well, but chronic use can cause side effects, and they aren’t equally effective for all sources of pain. Could we identify a more effective, safer analgesic that doesn’t involve ... Read More about A deeper understanding of inflammatory pain could reveal new solutions
Lucas receives gene therapy for DMD and finds his super muscles
Lucas Toro has a lot in common with Gekko, the cartoon character from PJ Masks. They’re both “little guys” whose strength surprises people. And they both use their muscles for good. Getting strong is a new feeling for Lucas — one he’s using to blaze new trails for other kids. In September 2023, he became ... Read More about Lucas receives gene therapy for DMD and finds his super muscles
It takes a village and the world: Tariq’s care for Tourette syndrome
When your child is sick but you can’t figure out the cause or how to fix it, it can leave you feeling helpless and frustrated. It can also test how far you’ll go for answers. Just ask Salem of the United Arab Emirates (UAE), who moved with his family to Boston so his son Tariq ... Read More about It takes a village and the world: Tariq’s care for Tourette syndrome
Infantile spasms: Speeding referrals for all infants
Infantile epileptic spasms syndrome (IESS), often called infantile spasms, is the most common form of epilepsy seen during infancy. Prompt diagnosis and referral to a neurologist are essential. Infantile spasms can present subtly, and research indicates that diagnosis is often delayed. Additionally, infants are especially likely to experience delays in referral to a neurologist if ... Read More about Infantile spasms: Speeding referrals for all infants
New leads for spinal cord injury: Mapping spinal-projecting neurons in the brain
Only a fraction of people who sustain a spinal cord injury fully regain their motor function. While rehabilitation can help, scientists have long looked for ways to regenerate injured nerve fibers — including, at Boston Children’s Hospital, Zhigang He, PhD, BM. As part of a collaborative effort by the BRAIN Initiative Cell Census Network, which ... Read More about New leads for spinal cord injury: Mapping spinal-projecting neurons in the brain
Could ADHD be diagnosed genetically?
Despite it being very common, ADHD is often missed until a child reaches age 7 or older. By that time, they have likely been struggling socially and in school. Could early genetic testing be part of the solution? Anne Arnett, PhD, in partnership with Ryan Doan, PhD, at Boston Children’s Hospital, set out to see ... Read More about Could ADHD be diagnosed genetically?
Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Chloe Burian has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, the 12-year-old remains upbeat. “Nothing bothers her,” says Chloe’s mom, Audrey. “She goes through life with a smile.” Still, there were moments of doubt along the way, especially when Audrey and her husband, Rudy, ... Read More about Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Homecoming: Jack’s complex care brings a family back to Massachusetts
Georgia and her husband, Keith, moved to North Carolina from Massachusetts in 2015 with a dream of building a house and starting a family. Their plans changed, however, when their son Jack was born in 2017 with severe health complications, including a rare and severe form of childhood epilepsy called Lennox-Gastaut syndrome and a rare ... Read More about Homecoming: Jack’s complex care brings a family back to Massachusetts