Researchers with a sample card with dried blood that can be used to test for chronic myeloid leukemia.CreditRobert Hood/Fred Hutch News Service A rare but treatable form of cancer can now be diagnosed cheaply and easily with dried blood spots instead of whole blood, scientists in Seattle announced last week. The new test for chronicContinue reading “Cheaper Leukemia Testing Breakthrough”
Category Archives: genes
An extended family in Antioquia, Colombia with a genetic mutation causing Alzheimer’s
Ken Kosik: When we looked at the family trees, about 50 percent of the offspring were getting the disease. That’s a clear signature of a gene. But what gene? Kosik connected Dr. Lopera with leading geneticists in the U.S., and they started collecting blood samples and searching. Within a year, a major breakthrough. They foundContinue reading “An extended family in Antioquia, Colombia with a genetic mutation causing Alzheimer’s”
Gene study unlocks brain secrets
Scientists have identified five key genes that impact the size of structures in the brain, a study in Nature reveals. The international team, including University of Edinburgh researchers, says the findings increase knowledge of the causes of variability in brain development. The study may also help scientists to determine the genetic processes that underlie neuropsychiatricContinue reading “Gene study unlocks brain secrets”
DNA study could shed light on how genetic faults trigger disease
Researchers at the MRC Human Genetics Unit were part of an international collaboration that identified all the enhancers on a single human chromosome: May 2015 A new technique that identifies how genes are controlled could help scientists spot errors in the genetic code which trigger disease. The method focusses on those parts of DNA –Continue reading “DNA study could shed light on how genetic faults trigger disease”
Study reveals effects on body mass index of gene linked to heavy smoking
Collaboration between the University of Bristol and IGMM researchers: December 2014 A genetic variant which causes smokers to smoke more heavily has been shown to be associated with increased body mass index (BMI) – but only in those who have never smoked, according to new research. It is likely that this finding has not come toContinue reading “Study reveals effects on body mass index of gene linked to heavy smoking”
Even if a cancer-predisposing mutation is present in a family, others will not get cancer, part 1
What is genetic testing? Genetic testing looks for specific inherited changes (mutations) in a person’s chromosomes, genes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a person’s chance, or risk, of developing a disease such as cancer. Overall, inherited mutations areContinue reading “Even if a cancer-predisposing mutation is present in a family, others will not get cancer, part 1”
Cells without any mutations fared the best and reproduced faster
Yeast study charts survival impact of genetic mutations Scientists from the MRC Human Genetics Unit have mapped how thousands of genetic mutations can affect a cell’s chances of survival: April 2016 Scientists from the MRC Human Genetics Unit have mapped how thousands of genetic mutations can affect a cell’s chances of survival. The study revealsContinue reading “Cells without any mutations fared the best and reproduced faster”
Gene study pinpoints process that triggers painful bone disease
Gene study pinpoints process that triggers painful bone disease Researchers in Edinburgh and Dundee pinpoint a key gene in bone disease development: November 2015 Researchers at the Universities of Edinburgh and Dundee have pinpointed the mechanism by which a key gene contributes to the development of a painful bone disease. The researchers, led by DrContinue reading “Gene study pinpoints process that triggers painful bone disease”
One gene variant is minus one year in our lifespan, lung cancer in men and Alzheimer in women
Gene changes cut lifespan, study finds Scientists have identified DNA changes that can cut a person’s lifespan by up to three years. They have discovered two separate areas of the human genome where differences in the DNA code may affect how long a person lives. Gene variants The two changes – known as variants –Continue reading “One gene variant is minus one year in our lifespan, lung cancer in men and Alzheimer in women”
SCRIB and DISC1 genes and mental disorders, schizophrenia
Summary: A protein called Scribble (SCRIB gene) appears to orchestrate the intracellular signaling process for forgetting, a new study reports. Source: University of Edinburgh. More than one thousand people have had their entire genetic make-up decoded as part of a long-term study to gain insight into why some people’s brains age better than others. ScientistsContinue reading “SCRIB and DISC1 genes and mental disorders, schizophrenia”
REST is lost in mild cognitive impairment and Alzheimer’s disease
Human neurons are functional over an entire lifetime, yet the mechanisms that preserve function and protect against neurodegeneration during ageing are unknown. A study shows that induction of the repressor element 1-silencing transcription factor (REST; also known as neuron-restrictive silencer factor, NRSF) is a universal feature of normal ageing in human cortical and hippocampal neurons.Continue reading “REST is lost in mild cognitive impairment and Alzheimer’s disease”
Single Mutation in Recessive Gene Increases Risk of Earlier Onset Parkinson’s Disease
Summary: Researchers have discovered a genetic mutation that could signify a risk for early onset of Parkinson’s disease. Source: Mayo Clinic. A collaboration of 32 researchers in seven countries, led by scientists at Mayo Clinic’s campus in Florida, has found a genetic mutation they say confers a risk for development of Parkinson’s disease earlier thanContinue reading “Single Mutation in Recessive Gene Increases Risk of Earlier Onset Parkinson’s Disease”
It Takes Less Than a Second to Tell Humans From Androids
Summary: Researchers have discovered a visual mechanism that helps us to make snap judgement about what is really alive and what is simulated in a matter of milliseconds. Source: UC Berkeley. TV shows may have us fooled, but in real life, our brains make accurate snap judgments about what is real. It can be hardContinue reading “It Takes Less Than a Second to Tell Humans From Androids”
Worm Offers New Hope For Human Limb Regeneration
Summary: Researchers believe that if they can unlock the genetic network that allows acorn worms to regenerate body parts, they may be able to regenerate human limbs. Source: University of Washington. Our closest worm kin regrow body parts, raising hopes of regeneration in humans. What if humans could regrow an amputated arm or leg, orContinue reading “Worm Offers New Hope For Human Limb Regeneration”