Archive for genetics and genomics
‘Empowered to be there for Teagan’: New parents learn about hearing loss
Teagan O’Brien is a bright, spunky 4-year-old who loves reading, dancing, and playing outdoors. Her parents, Kim and Donnie, are firefighters who throw themselves into any new situation. Since they adopted Teagan three-and-a-half years ago, they’ve thrown themselves into supporting her with help from her team at Boston Children’s Hospital. Teagan was already a patient ... Read More about ‘Empowered to be there for Teagan’: New parents learn about hearing loss
A journey through the intestine during colitis, cell by cell
Inflammatory bowel disease (IBD), causing devastating abdominal pain, persistent diarrhea, and rectal bleeding, is hard to control with current treatments. Children often experience malnutrition and impaired growth. To get a better handle on IBD, researchers at Boston Children’s Hospital and Brigham and Women’s Hospital decided to eavesdrop on happenings in the colon. In the first ... Read More about A journey through the intestine during colitis, cell by cell
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
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
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
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
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
Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
A lot of things excite 10-year-old Aiden Flaherty: drums, soccer, skiing, video games. But lately, he’s also found joy in a quieter, less active pursuit: watching leaves move on trees. He loves being outdoors during the daytime and taking in all that nature offers. It’s something he only recently could do after receiving retinal gene ... Read More about Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
Could ADHD be diagnosed genetically?
Despite it being very common, ADHD is often missed until a child reaches age 7 or older. By that time, they have likely been struggling socially and in school. Could early genetic testing be part of the solution? Anne Arnett, PhD, in partnership with Ryan Doan, PhD, at Boston Children’s Hospital, set out to see ... Read More about Could ADHD be diagnosed genetically?