Archive for genetics and genomics
Why do some people get severe COVID-19? The nose may know
The body’s first encounter with SARS-CoV-2, the virus behind COVID-19, happens in the nose and throat, or nasopharynx. A new study in the journal Cell suggests that the first responses in this battleground help determine who will develop severe disease and who will get through with mild or no illness. Building on work published last ... Read More
The surprisingly specific genetics of joint disease
A new study provides unexpected insights into the biology of two common, heritable orthopedic conditions: developmental dysplasia of the hip (DDH) and knee osteoarthritis (OA). The findings, published July 6 in Nature Communications, show how a gene can have different effects in different parts of the body. They also raise the possibility of preventive measures ... Read More
A ‘pump’ gene’s surprising role in early brain formation
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More
Saving Laila: Family travels from Egypt for answers about rare genetic condition
When Aya Hendawy got off the plane that had brought her from Egypt to Boston, she didn’t linger in the airport or consider which tourist attractions to visit. Instead, she took a car directly to the Emergency Department at Boston Children’s Hospital, her daughter Laila in tow. “I asked them to please try to save ... Read More
When worlds collide: Glycosylated RNAs upend cell biology as we know it
Cells in our body bristle with sugars known as glycans that other cells can recognize via specialized receptors. Glycans attach to and modify proteins and fats, thereby influencing how proteins fold, how cues are trafficked between cells, and other cell-to-cell interactions. As just one example of glycans’ importance, our blood types (A, B, O) depend ... Read More
Can we prevent leukemia in patients with Shwachman-Diamond syndrome?
Anna Nazarenko doesn’t see herself as sick. The strong-willed, spunky 6-year-old loves to dance and ski, and spent much of April Fool’s day pranking her parents. Aside from the enzymes she takes to help digest her food, you wouldn’t know that she has Shwachman-Diamond syndrome (SDS). The rare, inherited type of bone marrow failure has ... Read More
Newborn genetic screening for pediatric cancer risk could save lives
Numerous genetic mutations increase children’s risk for various cancers. When they are detected early, cancers can potentially be caught at an early, more treatable stage — or avoided entirely. Could adding such “cancer predisposition” genes to routine newborn “heel-stick” screening save lives? Lisa Diller, MD, chief medical officer at the Dana-Farber/Boston Children’s Cancer and Blood ... Read More
Looking for cancer’s Achilles heel: The Pediatric Cancer Dependency Map
Thanks to developments in precision medicine, some adult cancers are now treated with designer drugs that target the genetic mutations that caused them. But most children with cancer have not reaped the same benefits. Unlike adult cancers, childhood cancers carry few genetic mutations. And the mutations these tumors do have are typically harder to make ... Read More
Pharmacogenomics: Nearly 30 percent of children could benefit, study finds
Medications aren’t one-size-fits-all. Genetic differences can affect how patients metabolize drugs, and can sometimes make a beneficial drug ineffective or even toxic. In one infamous case, a 2-year-old boy in Canada died from a codeine dose he received after surgery. A genetic difference caused him to metabolize codeine so quickly that toxic levels of morphine ... Read More
‘Mosaic’ gene mutations could explain some cases of autism
The causes of autism remain mysterious. Scientists have linked autism spectrum disorder to a long list of genes, but most children with autism have no known explanation. Two new studies add to the picture, implicating mutations that affect only a fraction of a child’s cells. Called mosaic mutations, they open a new avenue for research ... Read More