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    Rare Diseases

    Rare Diseases: A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. ... In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

    Trending News

    • SEP 29, 2017
      Cancer
      New Genetic Syndrome Makes Cancer More Likely
      New Genetic Syndrome Makes Cancer More Likely
      A recent study brings good news and bad news for mutations in the FANCM gene. The good news is that people with mutation ...
      Written By: Xuan Pham
      3
      SEP 11, 2017
      Neuroscience
      Software Could Detect Parkinson's Before Symptoms Appear
      Software Could Detect Parkinson's Before Symptoms Appear
      In any disease, the sooner it's detected, the sooner proper treatment can begin. Outcomes are always better when any ...
      Written By: Brenda Kelley Kim
      3
      AUG 10, 2017
      Immunology
      When Chickenpox Turns Deadly
      When Chickenpox Turns Deadly
      In very rare cases - two in 10,000 people experts say - a chickenpox infection can trigger extremely dangerous brain inf ...
      Written By: Kara Marker
      3
      AUG 03, 2017
      Cardiology
      Scientists Achieve Very First Safe Repair of Disease-Causing Mutation in Human Embryos
      Scientists Achieve Very First Safe Repair of Disease-Causing Mutation in Human Embryos
      Using in vitro fertilization (IVF), scientists are introducing genetic editing machinery into egg and sperm cells to pre ...
      Written By: Kara Marker
      3 1
      JUL 31, 2017
      Cardiology
      Rare Aging Disease Thwarted By New Technology
      Rare Aging Disease Thwarted By New Technology
      Most other current research on progeria, a rare and fatal genetic aging condition, revolves around genetics, but John P. ...
      Written By: Kara Marker
      2
      JUL 28, 2017
      Videos
      Genetic Testing and Cancer in the UK
      Genetic Testing and Cancer in the UK
      Genetic testing that can be done in the home are becoming popular with individuals looking to research their ancestry. H ...
      Written By: Brenda Kelley Kim
      2
      JUL 21, 2017
      Videos
      Here's What Would Happen if You Contracted Rabies
      Here's What Would Happen if You Contracted Rabies
      Rabies is a virus contracted through the saliva of other infected animals. Rabid raccoons have perhaps the greatest asso ...
      Written By: Anthony Bouchard
      2
      JUL 19, 2017
      Cell & Molecular Biology
      Understanding Disease Through Drug Mechanism
      Understanding Disease Through Drug Mechanism
      A compound that is very similar to an investigational drug enabled researchers to learn more about a rare disease.
      Written By: Carmen Leitch
      2
      JUL 18, 2017
      Immunology
      Zebrafish Immune System Controls Regeneration of Eye Tissue
      Zebrafish Immune System Controls Regeneration of Eye Tissue
      Zebrafish have something incredible to offer us: their ability to regenerate tissue. Past studies have also explored the ...
      Written By: Kara Marker
      3
      JUL 07, 2017
      Immunology
      FOXP3 Mutations Lead to Autoimmune Disease, But Scientists Have An Answer
      FOXP3 Mutations Lead to Autoimmune Disease, But Scientists Have An Answer
        Thanks to regulatory T cells (Tregs), the immune system is kept in line via a careful system of checks and balanc ...
      Written By: Kara Marker
      3
      JUL 06, 2017
      Cell & Molecular Biology
      Cause of Carey-Fineman-Ziter Syndrome, Potential Treatment ID'ed
      Cause of Carey-Fineman-Ziter Syndrome, Potential Treatment ID'ed
      This new data on a rare disease could help diagnose the disorder in new patients, and has led researchers to test new tr ...
      Written By: Carmen Leitch
      2
      JUL 02, 2017
      Cell & Molecular Biology
      FDA Trying to Eliminate Backlog of Orphan Drug Requests
      FDA Trying to Eliminate Backlog of Orphan Drug Requests
      The Orphan Drug Act has tried to spur development of therapeutics for diseases affecting less than 200,000 people.
      Written By: Carmen Leitch
      2
      JUN 24, 2017
      Cell & Molecular Biology
      Redefining how we Think of the Ribosome
      Redefining how we Think of the Ribosome
      New research is challenging a long-held assumption in molecular biology, and it may also help explain some confounding d ...
      Written By: Carmen Leitch
      1 2
      JUN 20, 2017
      Clinical & Molecular DX
      Rare Genetic Mutation Makes People More Prone to Colds
      Rare Genetic Mutation Makes People More Prone to Colds
      Are you someone who always has the unfortunate luck to catch whatever cold virus that’s going around? Well, scient ...
      Written By: Xuan Pham
      3 2
      MAY 22, 2017
      Cardiology
      First-Ever Genes Discovered to Cause Rare Congenital Heart Defect
      First-Ever Genes Discovered to Cause Rare Congenital Heart Defect
        For the first time, scientists discovered a genetic culprit for a severe congenital heart defect, hypoplastic lef ...
      Written By: Kara Marker
      3
      MAY 18, 2017
      Immunology
      Treating A Rare Immunological Disease with Mepolizumab
      Treating A Rare Immunological Disease with Mepolizumab
      There's a new standard treatment for a rare immunological disease: mepolizumab. No need for an approval process, tho ...
      Written By: Kara Marker
      2
      MAY 14, 2017
      Microbiology
      CDC Warns of New Tickborne Disease
      CDC Warns of New Tickborne Disease
      Ticks are nasty parasites that already pose a threat to human health; the Centers for Disease Control and Prevention are ...
      Written By: Carmen Leitch
      3
      MAY 08, 2017
      Cardiology
      Energy Drinks Risky For Individuals with Genetic Heart Condition
      Energy Drinks Risky For Individuals with Genetic Heart Condition
      The two main active ingredients in most energy drinks, caffeine and taurine, have been linked in the past to an increase ...
      Written By: Kara Marker
      4
      APR 23, 2017
      Cell & Molecular Biology
      Nerve Cells in the GI Tract are Capable of Regeneration
      Nerve Cells in the GI Tract are Capable of Regeneration
      Scientists at Johns Hopkins have reported interesting new evidence that upends common knowledge about gut nerve cells.
      Written By: Carmen Leitch
      3
      APR 16, 2017
      Clinical & Molecular DX
      Brain Parasite Makes for a Terrible Hawaiian Souvenir
      Brain Parasite Makes for a Terrible Hawaiian Souvenir
      Travelers heading to the beautiful Hawaiian paradise should be warned to avoid raw snails and slugs. Hawaiian state offi ...
      Written By: Xuan Pham
      3
      MAR 26, 2017
      Clinical & Molecular DX
      Lab-Grown Blood Now Possible to Mass-Produce
      Lab-Grown Blood Now Possible to Mass-Produce
      Lab-grown red blood cells are not a new concept. But culturing enough of these cells in mass quantities was the main cha ...
      Written By: Xuan Pham
      3
      MAR 17, 2017
      Health & Medicine
      Rare Tickborne Disease "Babesiosis" Produces Strange Side Effect
      Rare Tickborne Disease "Babesiosis" Produces Strange Side Effect
        The first human case of babesiosis was reported in 1957; until then it was thought of as a disease plaguing domes ...
      Written By: Kara Marker
      4 1
      MAR 10, 2017
      Clinical & Molecular DX
      Genetic Cause ID'ed for Rare Opitz C Syndrome
      Genetic Cause ID'ed for Rare Opitz C Syndrome
      There are many rare disorders and while they don't get much attention from the public at large, they are life-changi ...
      Written By: Carmen Leitch
      2
      FEB 28, 2017
      Health & Medicine
      More Servings of Fruits and Veggies, Less Risk of Heart Disease, Cancer
      More Servings of Fruits and Veggies, Less Risk of Heart Disease, Cancer
      You have heard “an apple a day keeps the doctor away,” but new research suggests that it is more like five t ...
      Written By: Kara Marker
      3 1
    SEP 29, 2017
    Cancer
    New Genetic Syndrome Makes Cancer More Likely
    New Genetic Syndrome Makes Cancer More Likely
    A recent study brings good news and bad news for mutations in the FANCM gene. The good news is that people with mutation ...
    Written By: Xuan Pham
    3
    SEP 11, 2017
    Neuroscience
    Software Could Detect Parkinson's Before Symptoms Appear
    Software Could Detect Parkinson's Before Symptoms Appear
    In any disease, the sooner it's detected, the sooner proper treatment can begin. Outcomes are always better when any ...
    Written By: Brenda Kelley Kim
    3
    AUG 10, 2017
    Immunology
    When Chickenpox Turns Deadly
    When Chickenpox Turns Deadly
    In very rare cases - two in 10,000 people experts say - a chickenpox infection can trigger extremely dangerous brain inf ...
    Written By: Kara Marker
    3
    AUG 03, 2017
    Cardiology
    Scientists Achieve Very First Safe Repair of Disease-Causing Mutation in Human Embryos
    Scientists Achieve Very First Safe Repair of Disease-Causing Mutation in Human Embryos
    Using in vitro fertilization (IVF), scientists are introducing genetic editing machinery into egg and sperm cells to pre ...
    Written By: Kara Marker
    3 1
    JUL 31, 2017
    Cardiology
    Rare Aging Disease Thwarted By New Technology
    Rare Aging Disease Thwarted By New Technology
    Most other current research on progeria, a rare and fatal genetic aging condition, revolves around genetics, but John P. ...
    Written By: Kara Marker
    2
     
     
  • JUL 28, 2017
    Videos
    Genetic Testing and Cancer in the UK
    Genetic Testing and Cancer in the UK
    Genetic testing that can be done in the home are becoming popular with individuals looking to research their ancestry. H ...
    Written By: Brenda Kelley Kim
    2
    JUL 21, 2017
    Videos
    Here's What Would Happen if You Contracted Rabies
    Here's What Would Happen if You Contracted Rabies
    Rabies is a virus contracted through the saliva of other infected animals. Rabid raccoons have perhaps the greatest asso ...
    Written By: Anthony Bouchard
    2
    JUL 19, 2017
    Cell & Molecular Biology
    Understanding Disease Through Drug Mechanism
    Understanding Disease Through Drug Mechanism
    A compound that is very similar to an investigational drug enabled researchers to learn more about a rare disease.
    Written By: Carmen Leitch
    2
    JUL 18, 2017
    Immunology
    Zebrafish Immune System Controls Regeneration of Eye Tissue
    Zebrafish Immune System Controls Regeneration of Eye Tissue
    Zebrafish have something incredible to offer us: their ability to regenerate tissue. Past studies have also explored the ...
    Written By: Kara Marker
    3
    JUL 07, 2017
    Immunology
    FOXP3 Mutations Lead to Autoimmune Disease, But Scientists Have An Answer
    FOXP3 Mutations Lead to Autoimmune Disease, But Scientists Have An Answer
      Thanks to regulatory T cells (Tregs), the immune system is kept in line via a careful system of checks and balanc ...
    Written By: Kara Marker
    3
     
     
  • JUL 06, 2017
    Cell & Molecular Biology
    Cause of Carey-Fineman-Ziter Syndrome, Potential Treatment ID'ed
    Cause of Carey-Fineman-Ziter Syndrome, Potential Treatment ID'ed
    This new data on a rare disease could help diagnose the disorder in new patients, and has led researchers to test new tr ...
    Written By: Carmen Leitch
    2
    JUL 02, 2017
    Cell & Molecular Biology
    FDA Trying to Eliminate Backlog of Orphan Drug Requests
    FDA Trying to Eliminate Backlog of Orphan Drug Requests
    The Orphan Drug Act has tried to spur development of therapeutics for diseases affecting less than 200,000 people.
    Written By: Carmen Leitch
    2
    JUN 24, 2017
    Cell & Molecular Biology
    Redefining how we Think of the Ribosome
    Redefining how we Think of the Ribosome
    New research is challenging a long-held assumption in molecular biology, and it may also help explain some confounding d ...
    Written By: Carmen Leitch
    1 2
    JUN 20, 2017
    Clinical & Molecular DX
    Rare Genetic Mutation Makes People More Prone to Colds
    Rare Genetic Mutation Makes People More Prone to Colds
    Are you someone who always has the unfortunate luck to catch whatever cold virus that’s going around? Well, scient ...
    Written By: Xuan Pham
    3 2
    MAY 22, 2017
    Cardiology
    First-Ever Genes Discovered to Cause Rare Congenital Heart Defect
    First-Ever Genes Discovered to Cause Rare Congenital Heart Defect
      For the first time, scientists discovered a genetic culprit for a severe congenital heart defect, hypoplastic lef ...
    Written By: Kara Marker
    3
     
     
  • MAY 18, 2017
    Immunology
    Treating A Rare Immunological Disease with Mepolizumab
    Treating A Rare Immunological Disease with Mepolizumab
    There's a new standard treatment for a rare immunological disease: mepolizumab. No need for an approval process, tho ...
    Written By: Kara Marker
    2
    MAY 14, 2017
    Microbiology
    CDC Warns of New Tickborne Disease
    CDC Warns of New Tickborne Disease
    Ticks are nasty parasites that already pose a threat to human health; the Centers for Disease Control and Prevention are ...
    Written By: Carmen Leitch
    3
    MAY 08, 2017
    Cardiology
    Energy Drinks Risky For Individuals with Genetic Heart Condition
    Energy Drinks Risky For Individuals with Genetic Heart Condition
    The two main active ingredients in most energy drinks, caffeine and taurine, have been linked in the past to an increase ...
    Written By: Kara Marker
    4
    APR 23, 2017
    Cell & Molecular Biology
    Nerve Cells in the GI Tract are Capable of Regeneration
    Nerve Cells in the GI Tract are Capable of Regeneration
    Scientists at Johns Hopkins have reported interesting new evidence that upends common knowledge about gut nerve cells.
    Written By: Carmen Leitch
    3
    APR 16, 2017
    Clinical & Molecular DX
    Brain Parasite Makes for a Terrible Hawaiian Souvenir
    Brain Parasite Makes for a Terrible Hawaiian Souvenir
    Travelers heading to the beautiful Hawaiian paradise should be warned to avoid raw snails and slugs. Hawaiian state offi ...
    Written By: Xuan Pham
    3
     
     
  • MAR 26, 2017
    Clinical & Molecular DX
    Lab-Grown Blood Now Possible to Mass-Produce
    Lab-Grown Blood Now Possible to Mass-Produce
    Lab-grown red blood cells are not a new concept. But culturing enough of these cells in mass quantities was the main cha ...
    Written By: Xuan Pham
    3
    MAR 17, 2017
    Health & Medicine
    Rare Tickborne Disease "Babesiosis" Produces Strange Side Effect
    Rare Tickborne Disease "Babesiosis" Produces Strange Side Effect
      The first human case of babesiosis was reported in 1957; until then it was thought of as a disease plaguing domes ...
    Written By: Kara Marker
    4 1
    MAR 10, 2017
    Clinical & Molecular DX
    Genetic Cause ID'ed for Rare Opitz C Syndrome
    Genetic Cause ID'ed for Rare Opitz C Syndrome
    There are many rare disorders and while they don't get much attention from the public at large, they are life-changi ...
    Written By: Carmen Leitch
    2
    FEB 28, 2017
    Health & Medicine
    More Servings of Fruits and Veggies, Less Risk of Heart Disease, Cancer
    More Servings of Fruits and Veggies, Less Risk of Heart Disease, Cancer
    You have heard “an apple a day keeps the doctor away,” but new research suggests that it is more like five t ...
    Written By: Kara Marker
    3 1
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