Rett syndrome sees glimmer of hope in Phase I trial
Part 1 of a two-part series. (Read part 2.) In the world of neurodevelopmental disorders, an exciting trend is the emergence of specific molecular targets and treatments through genetic research. A case in point is IGF-1 therapy for Rett syndrome, a devastating disorder in girls that affects their ability to speak, walk, eat and breathe. It ... Read More about Rett syndrome sees glimmer of hope in Phase I trial
cTAKES: Turning clinical notes into knowledge
My mother often says that my handwriting is so bad I should have been a doctor. Luckily, digital systems like electronic medical records (EMRs) and computerized pharmacy ordering systems have largely taken the legibility factor out of medicine, especially when it comes to doctors’ and nurses’ notes. Those notes—attached to millions of patient records—have the ... Read More about cTAKES: Turning clinical notes into knowledge
Pharmacogenomics: One size doesn’t fit all
In 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his ... Read More about Pharmacogenomics: One size doesn’t fit all
Safety trial of algal anesthetic kicks off
Two years ago, we told the story of the quest of Charles Berde, MD, PhD, of Boston Children’s Division of Pain Medicine, to turn an algal toxin called neosaxitoxin into a long-lasting local anesthetic. At that time, Berde—together with Alberto Rodríguez-Navarro, MD, from Padre Hurtado Hospital in Santiago, Chile, and a Chilean company called Proteus ... Read More about Safety trial of algal anesthetic kicks off
How things work: Scientists find cellular channels vital for hearing
Ending a 30-year search by scientists, researchers have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, progressive hearing loss. The proteins are essentially transducers: They form channels that convert mechanical sound waves entering the inner ear into electrical signals that ... Read More about How things work: Scientists find cellular channels vital for hearing
Parvalbumin neurons—new insight into the workings of a superhero brain cell
Say you’re a scientist in a movie, and you want to find out what gives a superhero his powers. You’d investigate any special suits he wears, whether he drinks any potions and what they are, right? Real-life scientists are following the same strategy to understand a powerful group of specialized brain cells. Parvalbumin cells (PV-cells) ... Read More about Parvalbumin neurons—new insight into the workings of a superhero brain cell
Catching platelets with NETs: Neutrophils and deep vein thrombosis
Sea cucumbers have an unusual way of defending themselves. When threatened, they ensnare their foes with sticky threads. Some even expel their own internal organs to repel attackers. Immune system cells called neutrophils sometimes do much the same: When confronted with bacteria, they unravel and shoot out their chromatin—the tightly wound mix of DNA and proteins that ... Read More about Catching platelets with NETs: Neutrophils and deep vein thrombosis
Restoring muscle function in a rare, devastating disease: Part 1
Part 1 of a two-part series. (Read part 2.) Sixth-grader William Ward cruises the hallways at school with a thumb-driven power chair and participates in class with the help of a DynaVox speech device. Although born with a rare, muscle-weakening disease called X-linked myotubular myopathy, or MTM, leaving him virtually immobile, he hasn’t given up. Neither has Alan Beggs, ... Read More about Restoring muscle function in a rare, devastating disease: Part 1
Restoring muscle function in a rare, devastating disease: Part 2
Part 2 of a two-part series. (Read part 1.) Back in the 1990s, rheumatologist Richard Weisbart, MD, of University of California, Los Angeles (UCLA), was studying lupus in a mouse model and found that the mice were making an antibody that had the intriguing ability to get inside tissues and cells. Weisbart shifted his work away ... Read More about Restoring muscle function in a rare, devastating disease: Part 2
This post may contain peanuts: Two-pronged treatment may ease severe allergies
Tripp Underwood contributed to this post. Families with peanut-allergic children live in fear that their child will ingest peanuts—even minute amounts—accidentally. Now, a small pilot study published in the Journal of Allergy and Clinical Immunology offers hope for peanut allergy. In the year-long study, immunologist Dale Umetsu, MD, PhD, and colleagues in the Division of Allergy and Immunology at ... Read More about This post may contain peanuts: Two-pronged treatment may ease severe allergies