Two studies in today s
Nature Neuroscience, led by researchers at Boston Children s Hospital, Brigham and Women s Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
Mosaic mutations affect only a portion of a person s cells. Rather than being inherited, they arise as a mistake introduced when a stem cell divides. A mutation in a stem cell will only be passed to the cells that descend from it, producing the mosaic pattern. When mosaic mutations occur during embryonic development, they can appear in the brain and affect the function of neurons. The earlier in development a mutation happens, the more cells will carry it.
Julie Segre Delivers the Anita Roberts Lecture
BY SUNITA CHOPRA, NCI
We often associate microbes with disease. But the Human Microbiome Project has shown that people live in a mutually beneficial relationship with trillions of microbes on and in their bodies. Human diseases affecting the mouth (cavities) and gastrointestinal tract (inflammatory bowel disease) as well as more complex diseases such as premature birth or type 2 diabetes are associated with alterations in the microbiome. And now, clinical studies are investigating whether those modifications might even drive some features of disease.
Julie Segre
Senior Investigator
Julie A. Segre (National Human Genome Research Institute, NHGRI), who is exploring the skin microbiome, explained the dichotomy in her Anita Roberts Lecture titled “Human Microbiome: Friend or Foe” on November 3, 2020. She uses genome sequencing and computational methods to characterize the healthy skin microbiome to better understand the pathology
DNA-editing method shows promise to treat mouse model of aging disease progeria
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can significantly shorten their life expectancy. The study was published in the journal
Nature, and was a collaboration between the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of Harvard and MIT, Boston; and the Vanderbilt University Medical Center, Nashville, Tennessee.