Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska Institutet highlight how long-read ...
May 7, 2025
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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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