Genetics
Groundbreaking genetic discovery shows why Lupus develops
In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
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News tagged with rare mutations
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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Diseases, Conditions, Syndromes
How 'Stranger Things' widened awareness of a rare disorder
(HealthDay)—Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot ...
Feb 20, 2020
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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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Genetics
Mutant models: Physics, statistics and genetics come together to reveal cancer's strategies
Nate Silver and Richard Feynman walk into a bar and bump into a biologist... While this may sound like the setup to some late-night nerd sketch, researchers have taken this premise and applied it to an increasingly cumbersome ...
Nov 2, 2014
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Oncology & Cancer
Gene involved in colorectal cancer also causes breast cancer
Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer. Researchers from Radboud university medical center, Leiden University Medical Center and ...
Feb 12, 2019
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Genetics
Australian breakthrough in stem cell kidney research
New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
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Genetics
Epigenetic alteration of a vitamin B12 gene shines new light on our understanding of rare diseases
Rare hereditary recessive diseases were thought to be expressed in off-spring only when both parents carry a mutation in the causal gene, but a new study is changing this paradigm. An international research team led by scientists ...
Jan 30, 2018
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Neuroscience
Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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Genetics
Study reveals unique molecular machinery of woman who can't feel pain
The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL.
May 23, 2023
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