Alzheimer's disease & dementia
Researchers discover two, rare genes associated with Alzheimer's disease
Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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Page 2 - News tagged with rare disease
Diseases, Conditions, Syndromes
US woman dies of infection resistant to all 26 available antibiotics
A US woman has died from an infection that was resistant to all 26 available antibiotics, health officials said this week, raising new concerns about the rise of dangerous superbugs.
Jan 13, 2017
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Genetics
Toxic protein linked to muscular dystrophy and arhinia
Researchers at the National Institutes of Health and their colleagues have found that a toxic protein made by the body called DUX4 may be the cause of two very different rare genetic disorders. For patients who have facioscapulohumeral ...
Feb 17, 2023
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Cardiology
Scientists discover the cause of accelerated atherosclerosis and premature death in progeria
Hutchinson-Gilford syndrome (HGPS, also known as progeria) is a very rare genetic disease that affects fewer than 400 people globally, and for which there is no effective treatment. HGPS is characterized by early aging accompanied ...
Mar 6, 2018
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Genetics
Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Aug 26, 2012
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Genetics
Analysis reveals rare respiratory disease PCD is more common than previously thought
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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Genetics
Discovery may help to explain mystery of 'missing' genetic risk
A new study could help to answer an important riddle in our understanding of genetics: why research to look for the genetic causes of common diseases has failed to explain more than a fraction of the heritable risk of developing ...
Feb 13, 2014
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Medical research
A new way to treat severe obesity
New research could pave the way for the treatment of early morbid familial obesity, a disease that affects four to six percent of people suffering from early severe obesity.
Mar 1, 2021
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Neuroscience
ADHD medicine may treat symptoms of genetic movement disorder in children, new study finds
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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Medications
Pulmonary arterial hypertension is incurable but animal model study suggests an experimental drug may be effective
An experimental drug that is already in clinical trials for other diseases could disrupt a positive feedback loop that exacerbates pulmonary arterial hypertension, a dangerous and rapidly fatal condition for which there is ...
