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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 26, 2021
      Genetics & Genomics
      A Better Gene Therapy Delivery System for Treating Muscle Diseases
      A Better Gene Therapy Delivery System for Treating Muscle Diseases
      Muscle diseases that have a genetic basis can cause muscles to waste away, and may lead to a premature death. There aren ...
      Written By: Carmen Leitch
      2
      SEP 24, 2021
      Drug Discovery & Development
      Nasal Drugs Show Promise for Slowing Parkinson's Disease
      Nasal Drugs Show Promise for Slowing Parkinson's Disease
      Two drugs delivered via the nose have shown promise for improving symptoms of Parkinson's disease in mice. The corre ...
      Written By: Annie Lennon
      2
      SEP 24, 2021
      Genetics & Genomics
      Kleefstra Syndrome Reversed in Mouse Model After Birth
      Kleefstra Syndrome Reversed in Mouse Model After Birth
      Kleefstra syndrome is a rare genetic disease caused by a mutation or deletion in one copy of a gene called EHMT1, which ...
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      SEP 22, 2021
      Cell & Molecular Biology
      Amyloid From the Liver May Contribute to Alzheimer's
      Amyloid From the Liver May Contribute to Alzheimer's
      While many changes have been observed in the brains of Alzheimer's disease patients, amyloid plaques are considered a ha ...
      Written By: Carmen Leitch
      1
      SEP 14, 2021
      Microbiology
      Learn How Good Bugs Can Benefit Us at International Microorganism Day
      Learn How Good Bugs Can Benefit Us at International Microorganism Day
      Microorganisms live everywhere, and we've learned over the past year that they can affect everything.
      Written By: Carmen Leitch
      1
      SEP 14, 2021
      Drug Discovery & Development
      A novel drug that targets the removal of pathogenic antibodies in myasthenia gravis
      A novel drug that targets the removal of pathogenic antibodies in myasthenia gravis
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      Written By: J. Bryce Ortiz
      1
      SEP 13, 2021
      Genetics & Genomics
      Moderna is Developing mRNA Vaccines to Rescue Different Protein Defects
      Moderna is Developing mRNA Vaccines to Rescue Different Protein Defects
      A genome contains instructions for making genes, and when an organism needs to produce proteins, it transcribes a gene s ...
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      SEP 13, 2021
      Microbiology
      Flu Season Looms Large as World May Have an 'Immunity Debt'
      Flu Season Looms Large as World May Have an 'Immunity Debt'
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      SEP 07, 2021
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      Vaccines- a Long History of Cost-Benefit Analysis
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      SEP 06, 2021
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      How a Genetic Mutation Could Lead to Leaky Gut
      How a Genetic Mutation Could Lead to Leaky Gut
      In our gut, there is a vast community of microorganisms. It's crucial that they stay there in the gastrointestinal tract ...
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      AUG 24, 2021
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      AUG 24, 2021
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      A Potential New, Less Costly Treatment for Pompe Disease
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      AUG 24, 2021
      Drug Discovery & Development
      A comparison of drugs for relapsing-remitting multiple sclerosis.
      A comparison of drugs for relapsing-remitting multiple sclerosis.
           Multiple sclerosis (MS) is a rare and unpredictable autoimmune disease in which the body’s inn ...
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      1
      AUG 13, 2021
      Drug Discovery & Development
      Breast Cancer Drug Reverses Deadly Blood Cancer in Mice
      Breast Cancer Drug Reverses Deadly Blood Cancer in Mice
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      1
      AUG 10, 2021
      Microbiology
      The CDC Investigates Several Cases of a Rare Tropical Disease
      The CDC Investigates Several Cases of a Rare Tropical Disease
      The bacterium Burkholderia pseudomallei is a pathogen that can live in water and soil, usually in tropical parts of nort ...
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      1
      AUG 03, 2021
      Health & Medicine
      Viruses and Autoimmunity: What Pandemics Have Taught Us
      Viruses and Autoimmunity: What Pandemics Have Taught Us
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      JUL 26, 2021
      Microbiology
      In 2021, "Hepatitis Can't Wait"
      In 2021, "Hepatitis Can't Wait"
      The hepatitis B virus was discovered by Dr. Baruch Blumberg in 1967. World hepatitis day is commemorated on his birthday ...
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      1
      JUL 05, 2021
      Genetics & Genomics
      Genetics May Help Us Learn Who is at Risk From a Folate Deficiency
      Genetics May Help Us Learn Who is at Risk From a Folate Deficiency
      Folate is necessary for a healthy pregnancy; low folate levels can lead to neural tube defects. A lack of folate, a nutr ...
      Written By: Carmen Leitch
      1
      JUL 02, 2021
      Genetics & Genomics
      Fish Models Provide New Insight Into Rare Genetic Diseases
      Fish Models Provide New Insight Into Rare Genetic Diseases
      Fish can serve as good research models. They can develop quickly, outside of the mother where they can be observed. Some ...
      Written By: Carmen Leitch
      1
      JUL 01, 2021
      Cell & Molecular Biology
      A Better Understanding of VLCADD May Improve Treatment
      A Better Understanding of VLCADD May Improve Treatment
      With newborn screenings, clinicians can now identify newly born infants that carry genetic mutations that will lead to d ...
      Written By: Carmen Leitch
      1
      JUN 27, 2021
      Cell & Molecular Biology
      Organoids Reveal Common Mechanism Underlying Rare Disorders
      Organoids Reveal Common Mechanism Underlying Rare Disorders
      Genetic testing has shown that mutations in a gene called HUWE1 are connected to rare syndromes that cause developmental ...
      Written By: Carmen Leitch
      1
      JUN 21, 2021
      Microbiology
      COVID-19 Gives Dangerous Fungal Infections an Opening
      COVID-19 Gives Dangerous Fungal Infections an Opening
      In Brazil, clinicians have noted a rise in C. auris infections. Researchers believe that exhausted healthcare workers, o ...
      Written By: Carmen Leitch
      1
      JUN 15, 2021
      Health & Medicine
      Enabling biomarker discovery with functional proteomics
      Enabling biomarker discovery with functional proteomics
      Clinical biomarkers are critical for the acceleration of curative medicines. The identification of these novel clinical ...
      Sponsored By: IsoPlexis Le
      1
      JUN 15, 2021
      Cardiology
      A Common Thread Among 20% of Sudden Cardiac Deaths
      A Common Thread Among 20% of Sudden Cardiac Deaths
      It's estimated that 450,000 Americans die from sudden heart conditions, and in about one in ten cases, the cause is unex ...
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      4
    SEP 26, 2021
    Genetics & Genomics
    A Better Gene Therapy Delivery System for Treating Muscle Diseases
    A Better Gene Therapy Delivery System for Treating Muscle Diseases
    Muscle diseases that have a genetic basis can cause muscles to waste away, and may lead to a premature death. There aren ...
    Written By: Carmen Leitch
    2
    SEP 24, 2021
    Drug Discovery & Development
    Nasal Drugs Show Promise for Slowing Parkinson's Disease
    Nasal Drugs Show Promise for Slowing Parkinson's Disease
    Two drugs delivered via the nose have shown promise for improving symptoms of Parkinson's disease in mice. The corre ...
    Written By: Annie Lennon
    2
    SEP 24, 2021
    Genetics & Genomics
    Kleefstra Syndrome Reversed in Mouse Model After Birth
    Kleefstra Syndrome Reversed in Mouse Model After Birth
    Kleefstra syndrome is a rare genetic disease caused by a mutation or deletion in one copy of a gene called EHMT1, which ...
    Written By: Carmen Leitch
    2
    SEP 22, 2021
    Cell & Molecular Biology
    Amyloid From the Liver May Contribute to Alzheimer's
    Amyloid From the Liver May Contribute to Alzheimer's
    While many changes have been observed in the brains of Alzheimer's disease patients, amyloid plaques are considered a ha ...
    Written By: Carmen Leitch
    1
    SEP 14, 2021
    Microbiology
    Learn How Good Bugs Can Benefit Us at International Microorganism Day
    Learn How Good Bugs Can Benefit Us at International Microorganism Day
    Microorganisms live everywhere, and we've learned over the past year that they can affect everything.
    Written By: Carmen Leitch
    1
     
     
  • SEP 14, 2021
    Drug Discovery & Development
    A novel drug that targets the removal of pathogenic antibodies in myasthenia gravis
    A novel drug that targets the removal of pathogenic antibodies in myasthenia gravis
    Myasthenia gravis is a chronic autoimmune disorder characterized by muscle weakness and fatigue. The disorder leads to a ...
    Written By: J. Bryce Ortiz
    1
    SEP 13, 2021
    Genetics & Genomics
    Moderna is Developing mRNA Vaccines to Rescue Different Protein Defects
    Moderna is Developing mRNA Vaccines to Rescue Different Protein Defects
    A genome contains instructions for making genes, and when an organism needs to produce proteins, it transcribes a gene s ...
    Written By: Carmen Leitch
    1
    SEP 13, 2021
    Microbiology
    Flu Season Looms Large as World May Have an 'Immunity Debt'
    Flu Season Looms Large as World May Have an 'Immunity Debt'
    Scientists are beginning to speculate about the possibility that the flu season this year will be particularly bad becau ...
    Written By: Carmen Leitch
    1
    SEP 07, 2021
    Health & Medicine
    Vaccines- a Long History of Cost-Benefit Analysis
    Vaccines- a Long History of Cost-Benefit Analysis
    Vaccination and new treatments for diseases have remained topics of skepticism since their inception. When it came to an ...
    Written By: Christopher DiMaio
    2
    SEP 06, 2021
    Genetics & Genomics
    How a Genetic Mutation Could Lead to Leaky Gut
    How a Genetic Mutation Could Lead to Leaky Gut
    In our gut, there is a vast community of microorganisms. It's crucial that they stay there in the gastrointestinal tract ...
    Written By: Carmen Leitch
    1
     
     
  • AUG 24, 2021
    Health & Medicine
    Myocarditis and COVID-19 Vaccination
    Myocarditis and COVID-19 Vaccination
    Myocarditis has been linked to sudden cardiac death in young, healthy athletes and smallpox, influenza, hepatitis B, and ...
    Written By: Alexandria Bass
    2
    AUG 24, 2021
    Genetics & Genomics
    A Potential New, Less Costly Treatment for Pompe Disease
    A Potential New, Less Costly Treatment for Pompe Disease
    Some rare genetic disorders impair a critical molecule that has to be replaced, or serious disease or disability will oc ...
    Written By: Carmen Leitch
    1 1
    AUG 24, 2021
    Drug Discovery & Development
    A comparison of drugs for relapsing-remitting multiple sclerosis.
    A comparison of drugs for relapsing-remitting multiple sclerosis.
         Multiple sclerosis (MS) is a rare and unpredictable autoimmune disease in which the body’s inn ...
    Written By: J. Bryce Ortiz
    1
    AUG 13, 2021
    Drug Discovery & Development
    Breast Cancer Drug Reverses Deadly Blood Cancer in Mice
    Breast Cancer Drug Reverses Deadly Blood Cancer in Mice
    A drug currently used to treat advanced breast cancers may treat a rare type of leukemia known as myelofibrosis. The stu ...
    Written By: Annie Lennon
    1
    AUG 10, 2021
    Microbiology
    The CDC Investigates Several Cases of a Rare Tropical Disease
    The CDC Investigates Several Cases of a Rare Tropical Disease
    The bacterium Burkholderia pseudomallei is a pathogen that can live in water and soil, usually in tropical parts of nort ...
    Written By: Carmen Leitch
    1
     
     
  • AUG 03, 2021
    Health & Medicine
    Viruses and Autoimmunity: What Pandemics Have Taught Us
    Viruses and Autoimmunity: What Pandemics Have Taught Us
    COVID-19 infections have given rise to COVID long haulers, people who had COVID and continue to have symptoms months aft ...
    Written By: Alexandria Bass
    1
    JUL 26, 2021
    Microbiology
    In 2021, "Hepatitis Can't Wait"
    In 2021, "Hepatitis Can't Wait"
    The hepatitis B virus was discovered by Dr. Baruch Blumberg in 1967. World hepatitis day is commemorated on his birthday ...
    Written By: Carmen Leitch
    1
    JUL 05, 2021
    Genetics & Genomics
    Genetics May Help Us Learn Who is at Risk From a Folate Deficiency
    Genetics May Help Us Learn Who is at Risk From a Folate Deficiency
    Folate is necessary for a healthy pregnancy; low folate levels can lead to neural tube defects. A lack of folate, a nutr ...
    Written By: Carmen Leitch
    1
    JUL 02, 2021
    Genetics & Genomics
    Fish Models Provide New Insight Into Rare Genetic Diseases
    Fish Models Provide New Insight Into Rare Genetic Diseases
    Fish can serve as good research models. They can develop quickly, outside of the mother where they can be observed. Some ...
    Written By: Carmen Leitch
    1
    JUL 01, 2021
    Cell & Molecular Biology
    A Better Understanding of VLCADD May Improve Treatment
    A Better Understanding of VLCADD May Improve Treatment
    With newborn screenings, clinicians can now identify newly born infants that carry genetic mutations that will lead to d ...
    Written By: Carmen Leitch
    1
     
     
  • JUN 27, 2021
    Cell & Molecular Biology
    Organoids Reveal Common Mechanism Underlying Rare Disorders
    Organoids Reveal Common Mechanism Underlying Rare Disorders
    Genetic testing has shown that mutations in a gene called HUWE1 are connected to rare syndromes that cause developmental ...
    Written By: Carmen Leitch
    1
    JUN 21, 2021
    Microbiology
    COVID-19 Gives Dangerous Fungal Infections an Opening
    COVID-19 Gives Dangerous Fungal Infections an Opening
    In Brazil, clinicians have noted a rise in C. auris infections. Researchers believe that exhausted healthcare workers, o ...
    Written By: Carmen Leitch
    1
    JUN 15, 2021
    Health & Medicine
    Enabling biomarker discovery with functional proteomics
    Enabling biomarker discovery with functional proteomics
    Clinical biomarkers are critical for the acceleration of curative medicines. The identification of these novel clinical ...
    Sponsored By: IsoPlexis Le
    1
    JUN 15, 2021
    Cardiology
    A Common Thread Among 20% of Sudden Cardiac Deaths
    A Common Thread Among 20% of Sudden Cardiac Deaths
    It's estimated that 450,000 Americans die from sudden heart conditions, and in about one in ten cases, the cause is unex ...
    Written By: Carmen Leitch
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