Genetics
Neonatal DNA tests could save young lives, expert says
A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.
Apr 1, 2019
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Page 4 - News tagged with rare gene 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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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
Predicting the transmission of rare, genetically based diseases
There are only 25 people in the whole of Quebec at the moment who have a rare recessive genetic disease called chronic atrial and intestinal dysrhythmia (CAID). It is a serious disease that affects both heart rate and intestinal ...
Dec 6, 2018
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Oncology & Cancer
Breast cancer's deadliness is influenced by genes
An international team of scientists have confirmed that both rare and common mutations of our genes are linked to the development of breast cancer, including tumour characteristics and corresponding deadliness. Interestingly, ...
Nov 2, 2018
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Alzheimer's disease & dementia
Scientists propose a new lead for Alzheimer's research
A University of Adelaide-led team of scientists has suggested a potential link between iron in our cells and the rare gene mutations that cause Alzheimer's disease, which could provide new avenues for future research.
Aug 14, 2018
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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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Oncology & Cancer
Novel genomics tool enables more accurate identification of rare mutations in cancer cells
A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.
Mar 22, 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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Oncology & Cancer
A new genetic marker accounts for up to 1.4 percent of cases of hereditary colon cancer
Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) have found a new genetic marker that would explain up to 1.4 percent of inherited colon cancer cases not related to mutations currently associated with ...
Oct 11, 2017
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