Genome editing: A CRISPR way to correct disease
Technology sometimes unfolds at a slow, measured pace and sometimes at lightning speed. Right now, we are witnessing what is arguably one of the fastest moving fields in biomedical science: a form of genome editing aptly known as CRISPR. CRISPR allows researchers to make very precise—some would say crisp—changes to the genomes of human cells ... Read More about Genome editing: A CRISPR way to correct disease
Stem cell medicine gets a “roadmap” and a quality assurance tool
If you’ve lost your way on the Boston subway, you need only consult a map to find the best route to your destination. Now stem cell engineers have a similar map to guide the making of cells and tissues for disease modeling, drug testing and regenerative medicine. It’s a computer algorithm known as CellNet. As ... Read More about Stem cell medicine gets a “roadmap” and a quality assurance tool
Gene therapy gets in the ring with another disease
Seeing that his mother, Kadriye, wasn’t looking, Emir Seyrek got an impish grin on his face, the kind only a two-year-old can have. He quietly dumped his bowl of dry cereal out on his bed and, with another quick look towards his mother, proceeded to pulverize the flakes to dust with his toy truck. The ... Read More about Gene therapy gets in the ring with another disease
‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease
It was the variability that intrigued pediatric cardiologist William Pu, MD, about his patient with heart failure. The boy suffered from a rare genetic mitochondrial disorder called Barth syndrome. While he ultimately needed a heart transplant, his heart function seemed to vary day-to-day, consistent with reports in the medical literature. “Often patients present in infancy with severe ... Read More about ‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease
Autism clinical trials are ripe for improvement
Walter Kaufmann, MD, is co-director of the Fragile X Syndrome Program and a member of the department of Neurology at Boston Children’s Hospital. He was site principal investigator for three arbaclofen trials sponsored by Seaside Therapeutics and currently advises the company on data analyses. This post is second in a two-part series on clinical trials in ... Read More about Autism clinical trials are ripe for improvement
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