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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

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.