Archive for genetics and genomics
A new anti-cancer strategy: Overriding tumor edits
Cancers are clever and often find ways to dodge people’s immune systems, making them hard to eradicate. Immunotherapies such as CAR-T cells and checkpoint inhibitors can sharpen the immune system’s attack and cure the cancer. But they don’t work for most solid tumors. We now know that tumors can edit their genes to evade immune ... Read More about A new anti-cancer strategy: Overriding tumor edits
Making genome sequencing a first-line test in rare disease
Children with rare diseases often undergo years of medical visits and genetic testing before they get a diagnosis. Over the past few years, clinics have started to embrace exome sequencing as a first genetic test, skipping time-consuming testing of individual genes and gene panels and getting to a diagnosis faster. But exome sequencing doesn’t always ... Read More about Making genome sequencing a first-line test in rare disease
Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
A healthy, functional kidney must maintain a delicate balance of water, nutrients, and electrolytes so it can properly filter the blood and produce urine. That often makes caring for patients with kidney disease an exercise in chemistry and mathematics — an aspect of nephrology that attracted two young physician-scientists. Coming from different paths, Nina Mann, ... Read More about Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
Whether she’s embracing school, sports, or music, Lindsey shows how Williams syndrome can be managed
One of the first things Lindsey Franco will tell you is, “I like being me. I like being happy.” The 19-year-old has a lot to be happy about. She attends a post-high school transition program that helps young adults expand their social and life skills. There, she does all the things she enjoys, including playing ... Read More about Whether she’s embracing school, sports, or music, Lindsey shows how Williams syndrome can be managed
‘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