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parvalbumin cells and otx2 in the brain

Parvalbumin neurons—new insight into the workings of a superhero brain cell

Basic/Translational, Research
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
Tagged: autism spectrum disorder, neuroscience, schizophrenia
Sea cucumber expelling its innards to drive off attackers

Catching platelets with NETs: Neutrophils and deep vein thrombosis

Basic/Translational, Research
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
Tagged: cellular and molecular medicine, thrombosis
Will Ward, a patient with myotubular myopathy

Restoring muscle function in a rare, devastating disease: Part 1

Basic/Translational, Research
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
Tagged: gene therapy, rare disease
Joshua Frase and his father

Restoring muscle function in a rare, devastating disease: Part 2

Basic/Translational, Research
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
Tagged: drug development, rare disease
peanut

This post may contain peanuts: Two-pronged treatment may ease severe allergies

Clinical, Research
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
Tagged: allergy, clinical trials, feeding therapy, immunology
a genetic pedigree for a family with autism

Inherited autism mutations found via genomic sequencing in Mideast families

Basic/Translational, Research
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
Tagged: autism spectrum disorder, exome sequencing, genetics and genomics, metabolism, orphan diseases, rare disease
lung on a chip

Building a body, one organ chip at a time

Basic/Translational, Research
They don’t look like much sitting in your hand. A few pieces of clear plastic, each smaller than an Altoids tin, with channels visible inside and holes for plugging tubing into them. But fill them with cells and treat those cells the right way, and they turn into something amazing: tiny hearts, lungs, guts, kidneys. ... Read More about Building a body, one organ chip at a time
Tagged: drug development, drug safety, gastroenterology, pulmonology, tissue engineering

First-ever drug trial reverses some signs of aging in progeria

Clinical, Research
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
Tagged: clinical trials, rare disease
apples as metaphor for cancer

Not all brain tumors are made the same, and that’s important

Basic/Translational, Research
When you look at an apple, no matter what variety, on the surface you can be pretty sure it’s actually an apple. From there, you can make lots of assumptions about it, like how it will taste when you bite into it and what will happen if you plant the seeds in your yard. With ... Read More about Not all brain tumors are made the same, and that’s important
Tagged: brain tumor, cancer, genetics and genomics, medulloblastoma
acute lymphoblastic leukemia

Taking a targeted approach when leukemia comes back

Clinical, Research
The news that your child has cancer always comes as a shock, but for one cancer, acute lymphoblastic leukemia (ALL), parents can take comfort in the fact that doctors are really good at treating it. The cure rate for ALL has, over the last 40 years, climbed to nearly 90 percent. Less comforting is the fact ... Read More about Taking a targeted approach when leukemia comes back
Tagged: cancer, clinical trials, leukemia

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