Genetics

Discovery unravels the mystery of a rare bone disease

A McGill-led team of researchers has made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect in a specific gene (heterozygous ...

Genetics

How shortened telomeres heighten risk of serious lung disease

In 2017, Cindy Sutherland caught a nasty cold she couldn't shake. After coughing nonstop for weeks, she went to urgent care and got a chest X-ray. When the doctor shared the results with her, he asked, "Have you ever heard ...

Diseases, Conditions, Syndromes

Online space created for knowledge sharing of rare-disease research

Patients with rare diseases have traditionally been the subjects of medical research. However, in recent years, their role has begun to shift from 'research participants' to 'experts with a lived experience,' with some being ...

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