I realised I was different at five years old. If I fell over, it wouldn’t just be a graze on my knee, my skin would
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Living with, treating and understanding the effects of a rare and/or chronic illness is a serious undertaking for a person and their loved ones. Regardless
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The patient in the case report (let’s call him Tom) was 54 and in good health. For two days in May, he felt unwell and
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A mouse study by Craig Powell, M.D., Ph.D., and colleagues suggests that early genetic rescue may be a potential therapy in autism spectrum disorder, or
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Christian singer Amy Grant had open heart surgery to treat a rare heart condition. She was recently diagnosed with partial anomalous pulmonary venous return (PAPVR).
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It was a pretty simple e-mail. Just a couple of lines. “It looks like low-dose ketamine is an up-regulator for ADNP. Do you think this
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A targeted therapy, currently being studied for treatment of certain cancers including glioblastoma, may also be beneficial in treating other neurologic diseases, a study at
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Researchers at the National Institutes of Health have discovered a second gene that causes melorheostosis, a rare group of conditions involving an often painful and
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Diabetes affects more than 400 million people worldwide and is a major public health problem. Although commonly referred to as a single disease, it actually
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