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 ...
Dec 12, 2023
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University at Buffalo research has identified how a misstep in the genesis of a key component of the kidney causes infantile cystinosis, a rare disease that significantly shortens the lifespan of patients.
Dec 8, 2023
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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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About one in 10 prescription drugs—mainly brand-name and expensive drugs and those for rare diseases—has a manufacturer-sponsored patient support program, which usually includes financial, nursing and educational supports.
Nov 27, 2023
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Much research has been conducted over many decades on diseases that are widespread in large parts of the population, such as cancer and heart disease. As a result, treatment methods have improved enormously thanks to long-term ...
Nov 24, 2023
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Vitamin B12 is a well-known micronutrient that has long been acknowledged for its essential role in maintaining nerve function, supporting red blood cell production, and facilitating DNA synthesis, all vital processes for ...
Nov 16, 2023
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The advent of whole genome sequencing technology has prompted an explosion in research into how genetics are associated with disease risk. But the vast majority of genetics research has been done on people of European ancestry, ...
Nov 15, 2023
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The U.S. Food and Drug Administration has approved Takeda Pharmaceuticals Adzynma, the first recombinant protein product indicated for prophylactic or on-demand enzyme replacement therapy (ERT) in adult and pediatric patients ...
Nov 14, 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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It's likely that few people had heard of frontotemporal dementia until earlier this year, when the family of actor Bruce Willis announced the 68-year-old had been diagnosed with the condition.
Nov 8, 2023
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