A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, investigator at the Jan and Dan Duncan Neurological…
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Japanese-European research team discovers novel genetic mitochondrial disorder
DNA ligase proteins, which facilitate the formation of bonds between separate strands of DNA, play critical roles in the replication and maintenance of DNA. The human genome encodes three different DNA ligase proteins, but only one of them—DNA ligase III…
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Rare autoimmune disorder caused a woman’s nose to collapse
A rare autoimmune disorder decimated the cartilage and bone in a woman’s nose, causing her nose to collapse and sink into her face. When the 34-year-old woman checked into a facial plastic surgery clinic, her nasal bride had completely collapsed,…
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Disrupted biochemical pathway in the brain linked to bipolar disorder
Bipolar disorder affects millions of Americans, causing dramatic swings in mood and, in some people, additional effects such as memory problems. While bipolar disorder is linked to many genes, each one making small contributions to the disease, scientists don’t know…
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A single injection reverses blindness in patient with rare genetic disorder
A Penn Medicine patient with a genetic form of childhood blindness gained vision, which lasted more than a year, after receiving a single injection of an experimental RNA therapy into the eye. The clinical trial was conducted by researchers at…
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Younger age of first drug use associated with faster development of substance use disorder
A new study shows that in the time after first trying cannabis or first misusing prescription drugs, the percentages of young people who develop the corresponding substance use disorder are higher among adolescents (ages 12-17) than young adults (ages 18-25)….
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Embitterment and posttraumatic embitterment disorder: Old but underrecognized problems
Embitterment is a response to injustice, humiliation, and breach of trust. There is the nagging wish to undo what happened, reinstate justice, get even, and take revenge. Embitterment can lead to dysfunctional behavior like social withdrawal, phobic avoidance, aggression, suicidality,…
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What is 'Post Pandemic Stress Disorder' – and how do you know if you have it?
How do you know if you might have PPSD? Increased levels of anxiety Variations in mood Sleep issues Nightmares Avoiding situations that remind you of pandemic/lockdowns Feeling on guard on constantly vigilant about future pandemics or recurrences of Covid-19 Intrusive type thoughts…
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Compound isolated from human sperm could treat genetic disorder
A newly discovered genetic condition caused by faulty protein synthesis which causes delayed development and learning difficulties could be treated by a compound originally isolated from human sperm, say scientists. The University of Manchester researchers, with collaborators from the UK,…
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Common neural circuit and potential target for anxiety and obsessive-compulsive disorder
Anxiety disorders and obsessive-compulsive disorder (OCD) are disabling psychiatric conditions, and major contributors to the global burden of nonfatal illness. The lifetime prevalence of anxiety disorders in adults under 60 years ranged from approximately 30-35%, whereas the lifetime prevalence in…
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