A new study has uncovered that a gene variant common in Oceanian communities was misclassified as a potential cause of heart disease, highlighting the risk of the current diversity gap in genomics research which can pose ...
Mar 5, 2025
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Within a few days of being born, more than 300,000 Australian babies a year have a spot of their blood analyzed to screen for a range of serious but treatable health conditions.
Jan 16, 2025
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Using a new technique, long-read sequencing, that allows DNA to be analyzed in much greater detail than before, a team of Swedish clinicians and researchers has discovered an unexpected complexity in chromosomal abnormalities. ...
Nov 4, 2024
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There are more than 7,000 rare and undiagnosed diseases globally. Although each condition occurs in a small number of individuals, collectively these diseases exert a staggering human and economic toll because they affect ...
Sep 25, 2024
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Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty ...
Aug 7, 2024
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At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.
Jun 24, 2024
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You've just been given a prescription for a new drug from your doctor. Your doctor told you why she was prescribing the medication, gave you its name and some information about common side-effects. Your pharmacist is also ...
May 10, 2024
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Anglo-Swedish pharmaceuticals giant AstraZeneca on Thursday agreed to buy French biotech specialist Amolyt Pharma for about $1 billion, expanding further into the field of rare drugs.
Mar 14, 2024
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An international team of scientists has developed a technology based on artificial intelligence (AI) for the study of minority diseases and has successfully applied it to identify the possible causes of the appearance of ...
Feb 28, 2024
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Every human's genome has millions of genetic variants, but most have little to no effect, making it difficult for clinicians to make medical diagnoses based on genetic differences.
Dec 7, 2023
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