Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term.
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.
A University of Illinois and Mayo collaboration has demonstrated a novel gene expression analysis technique that can accurately measure levels of RNA quickly and directly from a cancerous tissue sample while preserving the spatial information across the tissue --something that conventional methods cannot do.
Genetic Analysis, a leading Microbiome MDx specialist, today announced the publication of a new study in the peer-reviewed journal Digestive Disease and Sciences showing the results of using its GA-map Dysbiosis Test for identifying IBS patients who respond to the FODMAP diet and thus receive symptom relief.
Gene editing is one of the hottest topics in cancer research. A Chinese research team has now developed a gold-nanoparticle-based multifunctional vehicle to transport the "gene scissors" to the tumor cell genome.
Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.
The National Eye Institute has awarded Jackson Laboratory Professor Juergen Naggert, Ph.D., a five-year grant totaling $2,187,500 to study genetically controlled breaks in an eye structure known as the external limiting membrane, which could hold the key to understanding and treating enhanced S-cone syndrome and other diseases of the retina.
Mice with the genetic defect that causes Fragile X syndrome (FXS) learn and remember normally, but show an inability to learn new information that contradicts what they initially learned, shows a new study by a team of neuroscientists.
Researchers from the Epigenetics and Cancer Biology Program of the Bellvitge Biomedical Research Institute, led by Dr. Àlex Vaquero, have proposed a new regulation mechanism of the NF-κB pathway, which is associated with accelerated cellular aging, based on the analysis of the function of the SirT6 protein.
'Omics' research is based on non-targeted investigations that provide a holistic view of the molecules present in a cell, tissue or organism and how they change in response to environmental stimuli. The different branches of 'omics' research each focuses on a specific of cell components.
Screening the entire population for breast and ovarian cancer gene mutations, as opposed to just those at high-risk of carrying this mutation, is cost effective and could prevent more ovarian and breast cancers than the current clinical approach, according to research published today in the Journal of the National Cancer Institute.
Today, Beckman Coulter Life Sciences launched a family of FormaPure reagent kits for extracting nucleic acid from often challenging formalin-fixed, paraffin-embedded (FFPE) tissues. FormaPure reagent kits represent a single chemistry system designed and optimized for use in next-generation sequencing (NGS) and other downstream applications, including qPCR/ddPCR/PCR.
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