Pupil dilation and heart rate, analyzed by AI, may offer early autism diagnosis
Autism and other neurodevelopmental disorders often aren’t diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective. But new research this week in PNAS suggests that two simple, quantifiable measures — spontaneous fluctuations in pupil dilation or heart rate — could enable much earlier diagnosis of ... Read More about Pupil dilation and heart rate, analyzed by AI, may offer early autism diagnosis
Tissue models and a gene therapy for a deadly heart arrhythmia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a leading cause of sudden death from cardiac arrest in children and young adults. Marked by racing, irregular heartbeats, the inherited arrhythmia is typically silent until a child suddenly collapses and faints, at an average age of 12. The trigger is an adrenaline surge, caused by exercise or emotional ... Read More about Tissue models and a gene therapy for a deadly heart arrhythmia
New stem cell pipeline makes more lifelike cell products
Researchers in many fields of science and medicine engineer different types of human cells for drug testing and other purposes. They often begin with stem cells — unspecialized cells that have the potential to form many different types of tissue. By turning on certain genes, the scientists attempt to coax the stem cells into becoming ... Read More about New stem cell pipeline makes more lifelike cell products
Optimized CRISPR/Cas9 gene editing averts hearing loss in ‘Beethoven’ mice
Using a novel gene-editing approach, scientists at Boston Children’s Hospital and Harvard Medical School have salvaged hearing in a mouse model of hereditary deafness, with no apparent off-target effects. The system successfully identified a single misspelled “letter” in the defective copy of a gene required for hearing, disabled this aberrant copy, and spared the healthy ... Read More about Optimized CRISPR/Cas9 gene editing averts hearing loss in ‘Beethoven’ mice
Overriding resistance to epigenetic inhibitors in neuroblastoma
Neuroblastoma and other children’s cancers pose unique challenges. They’re not caused by the same kinds of genetic mutations that cause adult cancers, and only a minority of their mutations can be targeted with drugs. In a recent study, a team led by Kimberly Stegmaier, MD, at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center systematically deleted every gene ... Read More about Overriding resistance to epigenetic inhibitors in neuroblastoma
First sharp images reveal structure of key inflammatory protein
After decades of attempts by the scientific community, researchers have now provided the first clear look at a protein implicated in a vast array of inflammatory conditions. The finding, published recently in Nature, lifts a blindfold that has hampered scientists’ ability to intervene when the immune system overreacts to perceived threats. The protein, known as ... Read More about First sharp images reveal structure of key inflammatory protein
‘Good’ bacteria may prevent – and reverse – food allergy
Food allergy is a large and growing public health problem. For reasons that remain a mystery, the number of Americans who suffer from the disease has risen sharply over the last decade to as many as 32 million, according to one recent estimate. Nearly 8 percent of children in the U.S. — about two in ... Read More about ‘Good’ bacteria may prevent – and reverse – food allergy
Rare recessive mutations pry open new windows on autism
Over the past decade, autism spectrum disorder has been linked to mutations in a variety of genes, explaining up to 30 percent of all cases to date. Most of these variants are de novo mutations, which are not inherited, affect just one copy of a gene, and are relatively easy to find. The lab of ... Read More about Rare recessive mutations pry open new windows on autism
Genetics drive deep investigations into blood cell production
Knowing how different kinds of blood cells form from their stem cell progenitors can shed light on blood disorders and aid in finding new treatments. A series of recent studies co-led by researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center applied a variety of genetic tools to provide new insights on blood cell production. ... Read More about Genetics drive deep investigations into blood cell production
Sweet! How C. difficile toxin A enters intestinal cells
Clostridiodes difficile infection has become a leading cause of severe, sometimes fatal diarrheal illness. It flourishes best in hospitals and long-term care facilities where people are on long-term antibiotic treatment, but it’s also an increasing problem in the community. Much of the damage from C. diff is caused by toxins the bacterium produces, which damage ... Read More about Sweet! How C. difficile toxin A enters intestinal cells