Medical research
New research finds link between telomere length and lung disease
Brigham Young University biologist Jonathan Alder has a startling secret he doesn't freely share: he knows when most of us are going to die.
Feb 4, 2015
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Page 25 - News tagged with disease mutation
Genetics
Team identifies mutations associated with development of congenital heart disease
Fetal ultrasound exams on more than 87,000 mice that were exposed to chemicals that can induce random gene mutations enabled developmental biologists at the University of Pittsburgh School of Medicine to identify mutations ...
Mar 25, 2015
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Genetics
How mutations lead to neurodegenerative disease
Scientists have discovered how mutations in DNA can cause neurodegenerative disease. The discovery is an important step towards better treatment to slow the progression or delay onset in a range of incurable diseases such ...
May 13, 2019
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Genetics
Gene discovery offers new hope for people living with chronic skin disease
Scientists from The Australian National University (ANU) have discovered a gene mutation is responsible for causing psoriasis—a chronic inflammatory skin disease that causes patients to develop red, scaly and itchy patches ...
Mar 25, 2024
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Genetics
Researchers find a single, surprising gene behind a disorder that causes intellectual disability
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can ...
Jun 2, 2024
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Neuroscience
Mutation in common protein triggers tangles, chaos inside brain cells
A pioneer in the study of neural cells revealed today (Oct. 23, 2018) how a single mutation affecting the most common protein in a supporting brain cell produces devastating, fibrous globs. These, in turn, disturb the location ...
Oct 23, 2018
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Genetics
Rare genetic disease may protect Ashkenazi Jews against TB
Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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Genetics
Gene responsible for severe facial defects identified
Goldenhar syndrome is a rare congenital disease, affecting early fetal development. This syndrome includes malformations of varying severity, affecting different parts of the face. Its causes and modes of transmission are ...
May 4, 2023
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Oncology & Cancer
Stem cell disease model clarifies bone cancer trigger
Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, ...
Apr 9, 2015
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Medical research
Researchers discover blood biomarker for Lou Gehrig's disease, could lead to new treatments
Researchers from Brigham and Women's Hospital (BWH) are the first to discover that changes in monocytes (a type of white blood cell) are a biomarker for amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. This finding ...
Aug 6, 2012
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