Archive for Nancy Fliesler
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
Inherited autism mutations found via genomic sequencing in Mideast families
Autism clearly runs in some families, yet few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Now, three large Middle Eastern families with autism spectrum disorders (ASDs) have led the way ... Read More about Inherited autism mutations found via genomic sequencing in Mideast families
Gene therapy: Two years and holding
For the Cáceres family of Argentina, it’s a joyous holiday homecoming. Agustín, who received gene therapy at 5½ months of age, journeyed with his family to Boston for a check-up and got a clean bill of health. Agustín was born with the rare immune-deficiency disorder SCID-X1. More popularly known as “bubble boy” disease, it left him defenseless against ... Read More about Gene therapy: Two years and holding
Pediatric complex care: A day in the life
This is the first post of a two-part series on children with complex medical needs. Details on some patients have been changed for privacy reasons. This morning, as every morning, the Complex Care Service (CCS) team huddles in a tiny office deep inside Boston Children’s Hospital. They have 14 patients to discuss, each with a ... Read More about Pediatric complex care: A day in the life
First-ever drug trial reverses some signs of aging in progeria
The children came from all over the world: 28 families from 16 countries, speaking over a dozen languages. They faced a grim prognosis: death at an average age of 13 from cardiovascular disease. Not the congenital heart defects we so commonly see in babies coming to Boston Children’s Hospital, but the kind of disease you ... Read More about First-ever drug trial reverses some signs of aging in progeria
Immune cells “sculpt” brain circuits — by eating excess connections
The image above and the movie below show an immune cell caught in the act of tending the brain. The cell below has just eaten away unnecessary connections, or synapses, between neurons. That’s not something these cells, known as microglia, were previously thought to do. As immune cells, it was thought that their job was ... Read More about Immune cells “sculpt” brain circuits — by eating excess connections
Gene-therapy trial will attempt to restore hearing in deaf mice
Sound waves produce the sensation of hearing by vibrating hair-like structures on the inner ear’s sensory hair cells. But how this mechanical motion gets converted into electrical signals that go to our brains has long been a mystery. Scientists have believed some undiscovered protein is involved. Such proteins have been identified for taste, smell and ... Read More about Gene-therapy trial will attempt to restore hearing in deaf mice
Avoiding the needle: Engineering blood vessels to secrete drugs
People who rely on protein-based drugs often have to endure IV hookups or frequent injections, sometimes several times a week. And protein drugs – like Factor VIII and Factor IX for patients with hemophilia, alpha interferon for hepatitis C, interferon beta for multiple sclerosis — are very expensive. What if they could be made by people’s own ... Read More about Avoiding the needle: Engineering blood vessels to secrete drugs
A new start for gene therapy for ‘bubble boy’ disease: First U.S.-treated patient doing well
Until this month, Agustín Cáceres’s baptism was the only time his family could come close to him. Everyone had to wear masks, gloves and gowns. After that, he went into isolation, along with his mother Marcela, who came out only for meals. His father Alberto, and his four-year-old brother Jeremías, kept to a separate bedroom. ... Read More about A new start for gene therapy for ‘bubble boy’ disease: First U.S.-treated patient doing well