Many sufferers of rare diseases endure an odyssey until the correct diagnosis is made. "The goal is to detect such diseases at an early stage and initiate appropriate therapy as soon as possible," says Prof. Dr. Peter Krawitz ...
Feb 10, 2022
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Shortening the diagnostic journey and providing effective treatments are key to a longer and healthier life for patients. These are just a few of the major milestones in rare disease research spearheaded by the International ...
Feb 8, 2022
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For children suffering from rare diseases, it usually takes years to receive a diagnosis. This "diagnostic odyssey" is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious ...
Feb 3, 2022
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Using a common attention deficit hyperactivity disorder (ADHD) medication appears to help manage the symptoms of a rare and currently difficult to treat genetic movement disorder primarily found in children, according to ...
Feb 2, 2022
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A large data analysis led by Indiana University School of Medicine Professor Benjamin Gaston, MD, shows a rare respiratory disease called primary ciliary dyskinesia (PCD) is more common than previously thought.
Jan 24, 2022
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When cells divide, through a process called mitosis, the genetic information must be equally distributed among the new cells. That is the moment when mitotic errors can arise, potentially leading to DNA damage, including ...
Jan 20, 2022
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Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by extensive bone growth outside of the normal skeleton that pre-empts the body's normal responses to even minor injuries. It results in what some ...
Jan 14, 2022
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A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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Biliary atresia is a rare disease that occurs when a delicate tree-like set of ducts that carry bile from the liver to the intestine becomes scarred and blocked. While some treatments can slow the damage, most children who ...
Jan 10, 2022
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Researchers from Children's Hospital of Philadelphia (CHOP) have published the most comprehensive description to date of the rare genetic disorder known as WAGR syndrome. This new report identified several clinical issues ...
Dec 20, 2021
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