Genetic variants are found in two types of strabismus, sparking hope for future treatment
Determining how genetics contribute to common forms of strabismus has been a challenge for researchers. Small discoveries are considered meaningful progress. Boston Children’s researchers believe they’ve helped move the needle. They discovered that two types of strabismus — esotropia and exotropia — may have shared genetic risk factors. Duplications on the second, fourth, and tenth chromosomes that ... Read More about Genetic variants are found in two types of strabismus, sparking hope for future treatment
Exploring brain operations: Making decisions, snapping to attention, and forming memories
How do our brains snap to attention and orient us to the outside world — like when we’re sound asleep and the smoke alarm goes off? And when different choices confront us, how does our brain make decisions? Two groups of researchers at Boston Children’s explored these all-important brain operations. The first study, published February ... Read More about Exploring brain operations: Making decisions, snapping to attention, and forming memories
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
Machine learning algorithm could offer urologists a “crystal ball” for predicting VUR
Hydronephrosis is a common congenital anomaly that’s increasingly identified during prenatal ultrasound. Although ultrasound is also the first-line test to screen for hydronephrosis in infants, it is poor at determining dilating vesicoureteral reflux (VUR), one cause of hydronephrosis. A voiding cystourethrogram (VCUG) can better characterize VUR but is more invasive and costlier. But what if ... Read More about Machine learning algorithm could offer urologists a “crystal ball” for predicting VUR
Could SIDS be caused by unrecognized brain infections?
Some infants who pass away from sudden infant death syndrome (SIDS) are known to have had acute minor infections. Could these have played a role in their death? Using next-generation molecular tools, a new study provides evidence that undiagnosed inflammation and occult infection can contribute to SIDS and the brainstem pathology seen in some infants. ... Read More about Could SIDS be caused by unrecognized brain infections?
The journey to a treatment for hereditary spastic paraplegia
In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. Untreated, the ... Read More about The journey to a treatment for hereditary spastic paraplegia