Archive for genetics and genomics
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
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More
After decades of evolution, gene therapy arrives
As early as the 1960s, scientists speculated that DNA sequences could be introduced into patients’ cells to cure genetic disorders. In the early 1980s, David Williams, MD, and David Nathan, MD, at Boston Children’s Hospital published the first paper showing one could use a virus to insert genes into blood-forming stem cells. In 2003, the ... Read More
How does the placenta protect unborn babies from COVID-19?
Evidence has shown that pregnancy is a risk factor for severe illness in women with COVID-19. A recent CDC study reviewed case reports of approximately 400,000 women aged 15 to 44 with symptomatic COVID-19. Those who were pregnant had a roughly tripled likelihood of ICU admission and invasive ventilation and 70 percent higher mortality. Yet ... Read More
Missed signals? A new way we vary from each other biologically
Genetics has made huge strides over the past 20 years, from the sequencing of the human genome to a growing understanding of factors that turn genes on and off, namely transcription factors and the DNA “enhancer” sequences they bind to. New research from Boston Children’s Hospital introduces another previously unknown layer of human genetics. It ... Read More