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The Human Side of Chromosomal Mutations

Some genetic diseases are so rare that only a handful of children have been diagnosed, often through microarray analysis. The New York Times chronicles how a few families searched for other people dealing with diseases known only by what part of the chromosome is affected, such as 16p11.2, 7q11.23, 22q13, or as a microdeletion of 16p11.2 through p12.2. They then met up to share their experiences. One parent found that looking at the children together made him think about how such small DNA changes can impact people so heavily.

It's a nice human interest story with slight genomic touch.


The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.