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 The FDA recently released a draft guidance on testing custom antisense oligonucleotides (ASOs) in patients.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
Hope in the shadow of Li-Fraumeni syndrome
Jake was diagnosed with his first cancer — osteosarcoma — in 2007 when he was only 16 years old. Meanwhile, his mom was being treated for recurrent cancer and his brother also would soon be diagnosed with cancer. Within the space of a few years, all three family members had died. This was not the ... Read More about Hope in the shadow of Li-Fraumeni syndrome
Exploring autism by way of three rare genetic disorders
Rajna Filip-Dhima, MS is a senior project manager for the Translational Neuroscience Center at Boston Children’s Hospital and for the Developmental Synaptopathies Consortium, which just received a new cycle of NIH funding. Autism spectrum disorder (ASD) is now believed to affect 1 in 59 children in the U.S. Over the past five years, Boston Children’s Hospital ... Read More about Exploring autism by way of three rare genetic disorders
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
Diet, the microbiome, and how insulin resistance causes metabolic syndrome
Up to a third of U.S. adults have metabolic syndrome, a constellation of high blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol levels. Now considered to be epidemic, metabolic syndrome increases people’s risk of diabetes, heart disease, and stroke, as well as kidney and neurodegenerative disease. Metabolic syndrome is ... Read More about Diet, the microbiome, and how insulin resistance causes metabolic syndrome
Online data mining adds to the picture of vaping-related lung disease
Severe lung disease related to vaping has been surging across the U.S., with the eighth death confirmed last week by the Centers for Disease Control and Prevention. A brief report in The New England Journal of Medicine suggests that online data-mining tools can supplement traditional public health surveillance and help officials stay ahead of this sudden epidemic. ... Read More about Online data mining adds to the picture of vaping-related lung disease
Targeting a rogue T cell prevents and reverses multiple sclerosis in mice
Multiple sclerosis is an autoimmune disease affecting both adults and children. It’s driven by “helper” T cells, white blood cells that mount an inflammatory attack on the brain and spinal cord, degrading the protective myelin sheath that covers nerve fibers. But there are many different kinds of T helper cells, and up until now, no ... Read More about Targeting a rogue T cell prevents and reverses multiple sclerosis in mice
An advance for drug-eluting contact lenses: Delivery to the back of the eye
Drug-eluting contact lenses, which gradually release drugs into the eye, offer a promising alternative to daily eye drops, which can be unpleasant and hard for patients to properly administer. In a 2016 pre-clinical study of glaucoma, the engineered lenses lowered eye pressure at least as well as daily eye drops. New work from Massachusetts Eye ... Read More about An advance for drug-eluting contact lenses: Delivery to the back of the eye
Babies’ EEG patterns predict whether they will develop autism
Signs of autism spectrum disorder (ASD) typically start to become apparent only in a child’s second year of life or later, but earlier identification could allow children to receive interventions as babies, when they have greater brain plasticity and thus may receive more benefit. A new study in Nature Communications finds that periodic EEGs in ... Read More about Babies’ EEG patterns predict whether they will develop autism
Meet BORIS: A new culprit in drug-resistant cancer?
Like a Russian bot corrupting U.S. elections, or a new prime minister wreaking havoc in the U.K., a protein named BORIS is showing itself to be a malevolent player in some childhood cancers. New research fingers BORIS as a culprit that can hack the neuroblastoma genome, rousing the cancer cells from dormancy after certain types ... Read More about Meet BORIS: A new culprit in drug-resistant cancer?