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rare disease

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.

"Repurposing starts with the human genome," a precision medicine expert said in explaining Vanderbilt's new approach to accelerating clinical trials.

Emilia Pinto and her colleagues are parsing the genetic landscape of adrenocortical tumors and collecting data in a registry.

Speakers at HudsonAlpha's Genomic Medicine Conference said while sequencing results sometimes result in a diagnosis and change in care, they often have no consequence.

HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.

Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.

As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.

Genomic informatics startups Gene42 and SeqOne announced a technology partnership that seeks to improve the yield and speed of rare disease diagnosis.

Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.