In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45 percent of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD? Noncoding DNA elements have long ... Read More about In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Microvillus inclusion disease: From organoids to new treatments
Microvillus inclusion disease (MVID) is a rare type of congenital enteropathy in infants that causes devastating diarrhea and an inability to absorb food. Infants can lose liters of fluid a day, become severely dehydrated, and stop growing. There is no specific treatment. “Until about 10 years ago, 50 percent of kids with MVID would die ... Read More about Microvillus inclusion disease: From organoids to new treatments
Exposing a tumor’s antigens to enhance immunotherapy
Successful immunotherapy for cancer involves activating a person’s own T cells to attack the tumor. But some tumors have a trick: They hide themselves from the immune system by preventing their antigens from being displayed, a necessary step in activating T cells. In new work published in Science, researchers in the Program in Cellular and ... Read More about Exposing a tumor’s antigens to enhance immunotherapy
When diagnosis is just the first step: The Brain Gene Registry
Through advances in genetic sequencing, many children with rare, unidentified neurodevelopmental disorders are finally having their mysteries solved. But are they? “Once families receive results of genetic testing, that’s just the beginning of a new journey,” says Maya Chopra, MBBS, FRACP, an investigator with the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. ... Read More about When diagnosis is just the first step: The Brain Gene Registry
Could a GI bug’s toxin curb hard-to-treat breast cancer?
Clostridium difficile can cause devastating inflammatory gastrointestinal infections, with much of the damage inflicted by a toxin the bug produces. But research from Boston Children’s Hospital suggests that the same toxin could also be a useful tool for curbing highly aggressive triple-negative breast cancers that don’t respond to chemotherapy. Min Dong, PhD, in the Department ... Read More about Could a GI bug’s toxin curb hard-to-treat breast cancer?
Researchers identify genes that could affect children’s bone growth
Many children anticipate reaching the next number on a measuring stick as they chart their growth. But measurements can be frustrating or stressful for children who have skeletal disorders that prevent bones from growing. Key findings Researchers used genome-wide association studies and CRISPR gene editing to see if alterations to cartilage cells, which are known ... Read More about Researchers identify genes that could affect children’s bone growth
Engineered cartilage could turn the tide for patients with osteoarthritis
About one in seven adults live with degenerative joint disease, also known as osteoarthritis (OA). In recent years, as anterior cruciate ligament (ACL) injury and other joint injuries have become more common among adolescent athletes, a growing number of 20- and 30-somethings have joined the ranks of aging baby boomers living with chronic OA pain. ... Read More about Engineered cartilage could turn the tide for patients with osteoarthritis
New leads for spinal cord injury: Mapping spinal-projecting neurons in the brain
Only a fraction of people who sustain a spinal cord injury fully regain their motor function. While rehabilitation can help, scientists have long looked for ways to regenerate injured nerve fibers — including, at Boston Children’s Hospital, Zhigang He, PhD, BM. As part of a collaborative effort by the BRAIN Initiative Cell Census Network, which ... Read More about New leads for spinal cord injury: Mapping spinal-projecting neurons in the brain
Timing is everything: How circadian rhythms influence our brains
Why are we mentally sharper at certain times of day? A study led by Jonathan Lipton MD, PhD, at Boston Children’s Hospital spells out the relationship between circadian rhythms — the body’s natural day/night cycles — and the brain connections known as synapses. The work is the first to provide a cellular and molecular explanation ... Read More about Timing is everything: How circadian rhythms influence our brains
Naloxone on demand: Shining a light to reverse opioid overdose
Overdose deaths from fentanyl and other opioids are at record highs in the U.S. Naloxone, if delivered soon after an overdose, is proven to be life-saving. It binds to the same brain receptors that opioids use, thereby blocking opioids’ effects. A naloxone nasal spray (Narcan) is now available over the counter, but there are still problems ... Read More about Naloxone on demand: Shining a light to reverse opioid overdose