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    Follow

    Genetic variant

    Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.

    Trending News

    • NOV 19, 2016
      Cancer
      Aggressive Brain Tumor Has a Telltale Genetic Mutation
      Aggressive Brain Tumor Has a Telltale Genetic Mutation
      Rhabdoid meningiomas are among one of the most aggressive brain cancer types. Furthermore, doctors have a difficult time ...
      Written By: Xuan Pham
      2
      OCT 12, 2016
      Clinical & Molecular DX
      TSRI and STSI Scientists Use ‘Molecular Autopsies' to Find Clues to Sudden Death
      TSRI and STSI Scientists Use ‘Molecular Autopsies' to Find Clues to Sudden Death
      Findings Could Help Living Relatives Understand Their Own Risk LA JOLLA, CA – October 11, 2016 – Sudden deat ...
      Written By: The Scripps Research Institute (TSRI)
      3
      SEP 28, 2016
      Cardiology
      17 Rare Gene Mutations Linked to Heart Disease & Diabetes
      17 Rare Gene Mutations Linked to Heart Disease & Diabetes
      The environmental and genetic factors surrounding the combined risk of cardiovascular disease is a complicated puzzle of ...
      Written By: Kara Marker
      3
      SEP 24, 2016
      Microbiology
      Understanding Yeast Evolution to Create Better Beer and Wine
      Understanding Yeast Evolution to Create Better Beer and Wine
      For as long as civilization has existed, the enjoyment of fermented drinks has been a part of various cultures and tradi ...
      Written By: Carmen Leitch
      2
      SEP 22, 2016
      Cell & Molecular Biology
      Unraveling the Complexities of Protein Regulation in Stem Cells
      Unraveling the Complexities of Protein Regulation in Stem Cells
      Researchers at the Agency for Science, Technology and Research (A*STAR), Singapore, have shown that alterations in regul ...
      Written By: Carmen Leitch
      3 1
      SEP 10, 2016
      Genetics & Genomics
      Rare Skull Fusion Disorder Caused By Gene Variant
      Rare Skull Fusion Disorder Caused By Gene Variant
      When the bones of an infant’s skull fuse too early, the growing brain is dangerously confined to a small space, ca ...
      Written By: Kara Marker
      3
      SEP 01, 2016
      Plants & Animals
      This Bird Species is the First Modern-Day Bird Extinction on the Galapagos
      This Bird Species is the First Modern-Day Bird Extinction on the Galapagos
      The Galapagos Islands have been all the recent buzz swirling around the discovery of a native species of songbird that i ...
      Written By: Anthony Bouchard
      3
      AUG 24, 2016
      Genetics & Genomics
      Scientists Discover Biochemical Risk Gene for Alzheimer's
      Scientists Discover Biochemical Risk Gene for Alzheimer's
      Beta-amyloid plaques and tau tangles are infamous buzzwords in the scientific community, referring to two thought-to-be ...
      Written By: Kara Marker
      4
      AUG 22, 2016
      Cardiology
      Genetic Tests Misdiagnose Serious Heart Condition
      Genetic Tests Misdiagnose Serious Heart Condition
      Diagnoses based on genetic testing results from the past ten years may be misdiagnosing some groups of people with a ser ...
      Written By: Kara Marker
      3
      AUG 15, 2016
      Genetics & Genomics
      TSRI Scientists Take Big Step Toward Recreating Primordial ‘RNA World' of Four Billion Years Ago
      TSRI Scientists Take Big Step Toward Recreating Primordial ‘RNA World' of Four Billion Years Ago
      LA JOLLA, CA—August 15, 2015—Scientists at The Scripps Research Institute (TSRI) have taken a big step towar ...
      Written By: The Scripps Research Institute (TSRI)
      2 2
      AUG 11, 2016
      Cell & Molecular Biology
      Analysis of the Ribozyme Finds a High Tolerance for Mutations
      Analysis of the Ribozyme Finds a High Tolerance for Mutations
      In new research published in the journal Angewandte Chemie, scientists applied a high throughput methodology to study th ...
      Written By: Carmen Leitch
      2 2
      AUG 03, 2016
      Cardiology
      New and Rare Congenital Heart Disease Discovered
      New and Rare Congenital Heart Disease Discovered
      For the first time, scientists have made a distinction between two types of congenital heart disease, one where causativ ...
      Written By: Kara Marker
      3
      AUG 03, 2016
      Genetics & Genomics
      Novel Expression Sites Discovered for ALS Gene
      Novel Expression Sites Discovered for ALS Gene
      Amyotropic Lateral Sclerosis (ALS), AKA the progressive neurodegenerative disease that inspired millions of people to ra ...
      Written By: Kara Marker
      2
      JUL 25, 2016
      Genetics & Genomics
      TREM2 Mutant Explains Microglia Dysfunction, Alzheimer's Disease
      TREM2 Mutant Explains Microglia Dysfunction, Alzheimer's Disease
      The immune cells of the brain are to thank for clearing Alzheimer’s disease-related plaques. Mutations in a certai ...
      Written By: Kara Marker
      4
      JUL 20, 2016
      Genetics & Genomics
      The Genetic Test That Reveals How DNA Helps Us Learn
      The Genetic Test That Reveals How DNA Helps Us Learn
      Recent studies have shown that our DNA has a significant hand in our academic success as school children, and researcher ...
      Written By: Kara Marker
      4 1
      JUL 07, 2016
      Cancer
      Genetic Profile of Myeloma Includes 8 New Variants
      Genetic Profile of Myeloma Includes 8 New Variants
      When the Human Genome Project was completed in April 2003, scientists around the world rejoiced in the vast amount of da ...
      Written By: Xuan Pham
      5
      JUN 30, 2016
      Genetics & Genomics
      What Are Malaria Parasites Hiding In Their Genes?
      What Are Malaria Parasites Hiding In Their Genes?
      In the world of malaria infection, Plasmodium falciparum parasites will always be queen to their less lethal cousin, Pla ...
      Written By: Kara Marker
      4
      JUN 14, 2016
      Neuroscience
      Stress Plus Pregnancy: Could Autism be the Result?
      Stress Plus Pregnancy: Could Autism be the Result?
      Any woman who has been pregnant can attest to the stress it can cause. Even in in a typical pregnancy, especially with f ...
      Written By: Brenda Kelley Kim
      3
      JUN 12, 2016
      Plants & Animals
      There May Be More Bioluminescent Fish in the Oceans Than Meets the Eye
      There May Be More Bioluminescent Fish in the Oceans Than Meets the Eye
      Bioluminescence is a biological feature of some animals to produce their own light source. They may do so for a variety ...
      Written By: Anthony Bouchard
      2
      JUN 06, 2016
      Neuroscience
      Gene for Multiple Sclerosis Found
      Gene for Multiple Sclerosis Found
      Multiple sclerosis, or MS, is a disease that has been puzzling  neuroscientists and researchers for decades. There ...
      Written By: Brenda Kelley Kim
      3
      JUN 03, 2016
      Immunology
      First Ever "Super Enhancers" Discovered in Autoimmune Disease
      First Ever "Super Enhancers" Discovered in Autoimmune Disease
      While the immune system does act as a multi-faceted protective system when dangerous bacteria and viruses come knocking, ...
      Written By: Kara Marker
      4
      MAY 24, 2016
      Cell & Molecular Biology
      Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
      Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
      Men tend to lose the Y chromosome from blood cells as they age, called LOY, and that loss appears to be compounded by so ...
      Written By: Carmen Leitch
      3
      MAY 21, 2016
      Health & Medicine
      How Obesity Causes Disease in Organs Distant From Fat
      How Obesity Causes Disease in Organs Distant From Fat
      Obesity increases one's risk of developing certain diseases, such as cancer, heart disease, and stroke. The symptoms ...
      Written By: Julianne Chiaet
      2
      MAY 20, 2016
      Health & Medicine
      New Technique To Find and Alter Cell Types in Brain
      New Technique To Find and Alter Cell Types in Brain
      Brandeis researchers have developed a novel approach for genetically identifying and manipulating specific neuronal cell ...
      Written By: Julianne Chiaet
      3
    NOV 19, 2016
    Cancer
    Aggressive Brain Tumor Has a Telltale Genetic Mutation
    Aggressive Brain Tumor Has a Telltale Genetic Mutation
    Rhabdoid meningiomas are among one of the most aggressive brain cancer types. Furthermore, doctors have a difficult time ...
    Written By: Xuan Pham
    2
    OCT 12, 2016
    Clinical & Molecular DX
    TSRI and STSI Scientists Use ‘Molecular Autopsies' to Find Clues to Sudden Death
    TSRI and STSI Scientists Use ‘Molecular Autopsies' to Find Clues to Sudden Death
    Findings Could Help Living Relatives Understand Their Own Risk LA JOLLA, CA – October 11, 2016 – Sudden deat ...
    Written By: The Scripps Research Institute (TSRI)
    3
    SEP 28, 2016
    Cardiology
    17 Rare Gene Mutations Linked to Heart Disease & Diabetes
    17 Rare Gene Mutations Linked to Heart Disease & Diabetes
    The environmental and genetic factors surrounding the combined risk of cardiovascular disease is a complicated puzzle of ...
    Written By: Kara Marker
    3
    SEP 24, 2016
    Microbiology
    Understanding Yeast Evolution to Create Better Beer and Wine
    Understanding Yeast Evolution to Create Better Beer and Wine
    For as long as civilization has existed, the enjoyment of fermented drinks has been a part of various cultures and tradi ...
    Written By: Carmen Leitch
    2
    SEP 22, 2016
    Cell & Molecular Biology
    Unraveling the Complexities of Protein Regulation in Stem Cells
    Unraveling the Complexities of Protein Regulation in Stem Cells
    Researchers at the Agency for Science, Technology and Research (A*STAR), Singapore, have shown that alterations in regul ...
    Written By: Carmen Leitch
    3 1
     
     
  • SEP 10, 2016
    Genetics & Genomics
    Rare Skull Fusion Disorder Caused By Gene Variant
    Rare Skull Fusion Disorder Caused By Gene Variant
    When the bones of an infant’s skull fuse too early, the growing brain is dangerously confined to a small space, ca ...
    Written By: Kara Marker
    3
    SEP 01, 2016
    Plants & Animals
    This Bird Species is the First Modern-Day Bird Extinction on the Galapagos
    This Bird Species is the First Modern-Day Bird Extinction on the Galapagos
    The Galapagos Islands have been all the recent buzz swirling around the discovery of a native species of songbird that i ...
    Written By: Anthony Bouchard
    3
    AUG 24, 2016
    Genetics & Genomics
    Scientists Discover Biochemical Risk Gene for Alzheimer's
    Scientists Discover Biochemical Risk Gene for Alzheimer's
    Beta-amyloid plaques and tau tangles are infamous buzzwords in the scientific community, referring to two thought-to-be ...
    Written By: Kara Marker
    4
    AUG 22, 2016
    Cardiology
    Genetic Tests Misdiagnose Serious Heart Condition
    Genetic Tests Misdiagnose Serious Heart Condition
    Diagnoses based on genetic testing results from the past ten years may be misdiagnosing some groups of people with a ser ...
    Written By: Kara Marker
    3
    AUG 15, 2016
    Genetics & Genomics
    TSRI Scientists Take Big Step Toward Recreating Primordial ‘RNA World' of Four Billion Years Ago
    TSRI Scientists Take Big Step Toward Recreating Primordial ‘RNA World' of Four Billion Years Ago
    LA JOLLA, CA—August 15, 2015—Scientists at The Scripps Research Institute (TSRI) have taken a big step towar ...
    Written By: The Scripps Research Institute (TSRI)
    2 2
     
     
  • AUG 11, 2016
    Cell & Molecular Biology
    Analysis of the Ribozyme Finds a High Tolerance for Mutations
    Analysis of the Ribozyme Finds a High Tolerance for Mutations
    In new research published in the journal Angewandte Chemie, scientists applied a high throughput methodology to study th ...
    Written By: Carmen Leitch
    2 2
    AUG 03, 2016
    Cardiology
    New and Rare Congenital Heart Disease Discovered
    New and Rare Congenital Heart Disease Discovered
    For the first time, scientists have made a distinction between two types of congenital heart disease, one where causativ ...
    Written By: Kara Marker
    3
    AUG 03, 2016
    Genetics & Genomics
    Novel Expression Sites Discovered for ALS Gene
    Novel Expression Sites Discovered for ALS Gene
    Amyotropic Lateral Sclerosis (ALS), AKA the progressive neurodegenerative disease that inspired millions of people to ra ...
    Written By: Kara Marker
    2
    JUL 25, 2016
    Genetics & Genomics
    TREM2 Mutant Explains Microglia Dysfunction, Alzheimer's Disease
    TREM2 Mutant Explains Microglia Dysfunction, Alzheimer's Disease
    The immune cells of the brain are to thank for clearing Alzheimer’s disease-related plaques. Mutations in a certai ...
    Written By: Kara Marker
    4
    JUL 20, 2016
    Genetics & Genomics
    The Genetic Test That Reveals How DNA Helps Us Learn
    The Genetic Test That Reveals How DNA Helps Us Learn
    Recent studies have shown that our DNA has a significant hand in our academic success as school children, and researcher ...
    Written By: Kara Marker
    4 1
     
     
  • JUL 07, 2016
    Cancer
    Genetic Profile of Myeloma Includes 8 New Variants
    Genetic Profile of Myeloma Includes 8 New Variants
    When the Human Genome Project was completed in April 2003, scientists around the world rejoiced in the vast amount of da ...
    Written By: Xuan Pham
    5
    JUN 30, 2016
    Genetics & Genomics
    What Are Malaria Parasites Hiding In Their Genes?
    What Are Malaria Parasites Hiding In Their Genes?
    In the world of malaria infection, Plasmodium falciparum parasites will always be queen to their less lethal cousin, Pla ...
    Written By: Kara Marker
    4
    JUN 14, 2016
    Neuroscience
    Stress Plus Pregnancy: Could Autism be the Result?
    Stress Plus Pregnancy: Could Autism be the Result?
    Any woman who has been pregnant can attest to the stress it can cause. Even in in a typical pregnancy, especially with f ...
    Written By: Brenda Kelley Kim
    3
    JUN 12, 2016
    Plants & Animals
    There May Be More Bioluminescent Fish in the Oceans Than Meets the Eye
    There May Be More Bioluminescent Fish in the Oceans Than Meets the Eye
    Bioluminescence is a biological feature of some animals to produce their own light source. They may do so for a variety ...
    Written By: Anthony Bouchard
    2
    JUN 06, 2016
    Neuroscience
    Gene for Multiple Sclerosis Found
    Gene for Multiple Sclerosis Found
    Multiple sclerosis, or MS, is a disease that has been puzzling  neuroscientists and researchers for decades. There ...
    Written By: Brenda Kelley Kim
    3
     
     
  • JUN 03, 2016
    Immunology
    First Ever "Super Enhancers" Discovered in Autoimmune Disease
    First Ever "Super Enhancers" Discovered in Autoimmune Disease
    While the immune system does act as a multi-faceted protective system when dangerous bacteria and viruses come knocking, ...
    Written By: Kara Marker
    4
    MAY 24, 2016
    Cell & Molecular Biology
    Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
    Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
    Men tend to lose the Y chromosome from blood cells as they age, called LOY, and that loss appears to be compounded by so ...
    Written By: Carmen Leitch
    3
    MAY 21, 2016
    Health & Medicine
    How Obesity Causes Disease in Organs Distant From Fat
    How Obesity Causes Disease in Organs Distant From Fat
    Obesity increases one's risk of developing certain diseases, such as cancer, heart disease, and stroke. The symptoms ...
    Written By: Julianne Chiaet
    2
    MAY 20, 2016
    Health & Medicine
    New Technique To Find and Alter Cell Types in Brain
    New Technique To Find and Alter Cell Types in Brain
    Brandeis researchers have developed a novel approach for genetically identifying and manipulating specific neuronal cell ...
    Written By: Julianne Chiaet
    3
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