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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A new review article in Human Gene Therapy summarizes the significant milestones in the development of gene therapy medicinal products that have facilitated the treatment of a significant number of rare diseases. The article ...
Nov 13, 2023
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A team of researchers led by Professor Megumu K. Saito have undertaken a massive effort to build an induced pluripotent stem (iPS) cell resource for rare diseases, enabling research and development of novel diagnostic tools ...
Oct 5, 2023
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A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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The informed consent process in biomedical research is biased towards people who can meet with clinical study staff during the working day. For those who have the availability to have a consent conversation, the time burden ...
Jun 12, 2023
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High drug prices are not justified by industry's spending on research and development (R&D), argue experts in The BMJ today.
Feb 15, 2023
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In a global study of outcome reporting in clinical trials, a research team at The Hospital for Sick Children (SickKids) has issued updated guidelines on what should be included in all trial protocols and published clinical ...
Dec 13, 2022
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Rare diseases are often difficult to diagnose and predicting the best course of treatment can be challenging for clinicians. Investigators from the Mahmood Lab at Brigham and Women's Hospital, a founding member of the Mass ...
Oct 10, 2022
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Since its inception, the internet has fundamentally changed all parts of human society for both good and ill, and medical research is no exception. The fast pace of change enabled by digital technologies means that ethical ...
Aug 2, 2022
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Today, an international group of leading scientists publish recommendations for updating existing standards for determining the disease-causing potential of genomic variants, harnessing insights from Genomics England rare ...
Jul 19, 2022
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