Rare disease possibly identified in 12th century child's skeletal remains

In the journal Childhood in the Past, Ph.D. candidate Duru Yağmur Başaran published the results of an analysis of an over 900 ...
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Meet the Model With a Rare Genetic Disorder Who Proves Beauty Has No Rules

For decades, the fashion world celebrated only one image of beauty: tall, slender women with sleek or curly hair. But Melanie ...

'Genomic-first' approach can identify rare genetic disorders earlier

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...

Toddler Diagnosed with Rare Genetic Illness Impacting Less Than 50 People Worldwide (Exclusive)

Eventually, Calvin underwent whole genome sequencing, which led to him finally getting a diagnosis. "Calvin was diagnosed in May of this year, at around 20 months, after testing that started when he ...