Susan Domchek of the Perelman School of Medicine says that the study does not “resolve the question of what the risk is to someone with no family history and a mutation.”
Health & Medicine
One of the goals of genome sequencing is to identify genetic mutations associated with increased susceptibility to disease. Yet by and large these discoveries have been made in people of European or Asian ancestry, resulting in an incomplete picture of global genetic variation in disease vulnerability.
University of Pennsylvania researchers have made another advance in understanding how the brain detects errors caused by unexpected sensory events. This type of error detection is what allows the brain to learn from its mistakes, which is critical for improving fine motor control.
Penn Study Shows Better Outcomes for Sepsis Patients Treated in Hospitals with Higher Volume of Cases
Patients with sepsis, one of the most time-sensitive and hard-to-detect illnesses in medicine, are more likely to survive the life-threatening condition when treated at a hospital that sees a higher volume of sepsis cases.
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In a hackathon, teams of coders compete against each other and the clock, working night and day to produce the best possible software and hardware applications under a tight deadline.
1,200 Top Collegiate Hackers
The 10th edition of 48-hour PennApps Hackathon, the largest and most prestigious student-run hackathon in the world, with more than $30,000 in prizes for best software and hardware applications
Public expo of projects created during the weekend
Hacking begins: Friday, Sept. 12, 7:30 p.m.
Expo: Sunday, Sept. 14, 10:30 a.m.-1:30 p.m.
Awards ceremony: Sunday, Sept. 14, 2 p.m.
University of Pennsylvania
A Penn Medicine-developed drug has received orphan status in Europe this week for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), a rare, life-threatening disease that causes anemia due to destruction of red blood cells and thrombosis.
Treating the rare disease MPS I is a challenge. MPS I, caused by the deficiency of a key enzyme called IDUA, eventually leads to the abnormal accumulation of certain molecules and cell death.
For decades, researchers have used petri dishes to study cell movement. These classic tissue culture tools, however, only permit two-dimensional movement, very different from the three-dimensional movements that cells make in a human body.