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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

    • MAY 28, 2025
      Clinical & Molecular DX
      A Faster, Less Invasive Way to Diagnose Rare Diseases in Kids
      A Faster, Less Invasive Way to Diagnose Rare Diseases in Kids
      While genetic testing has advanced, and has enabled clinicians and doctors to provide families with answers when medical ...
      Written By: Carmen Leitch
      3
      MAR 24, 2025
      Cell & Molecular Biology
      A Key Trigger of Immune Overactivity is IDed
      A Key Trigger of Immune Overactivity is IDed
      The immune system is crucial to our health. It must sense pathogens and respond to the threat effectively. But the immun ...
      Written By: Carmen Leitch
      3
      FEB 19, 2025
      Cell & Molecular Biology
      A 'Junk DNA' Mutation That Prevents a Disease
      A 'Junk DNA' Mutation That Prevents a Disease
      Only around two percent of the human genome codes for proteins, and while those proteins carry out many important functi ...
      Written By: Carmen Leitch
      4
      JAN 21, 2025
      Clinical & Molecular DX
      A New Approach Solves Hundreds of Patient Mysteries
      A New Approach Solves Hundreds of Patient Mysteries
      Scientists have provided a diagnosis for 500 European patients who did not know their condition...
      Written By: Carmen Leitch
      3
      JAN 17, 2025
      Genetics & Genomics
      Advanced Genetic Technology Can Solve Rare Disease Mysteries
      Advanced Genetic Technology Can Solve Rare Disease Mysteries
      Genetic sequencing has gone through several advances. A major breakthrough came when scientists began breaking the billi ...
      Written By: Carmen Leitch
      4
      DEC 09, 2024
      Genetics & Genomics
      How Errors in a Non-Coding RNA Can Cause Disease
      How Errors in a Non-Coding RNA Can Cause Disease
      The expression of genes has to be very carefully controlled by cells; serious problems can arise when genes are expresse ...
      Written By: Carmen Leitch
      3
      SEP 12, 2024
      Cannabis Sciences
      CBD Shows Promise for Treating Leigh Syndrome
      CBD Shows Promise for Treating Leigh Syndrome
      A new study reports that daily use of cannabidiol (CBD) extends lifespan and improves symptoms of Leigh syndrome in both ...
      Written By: Annie Lennon
      3
      JUN 06, 2024
      Clinical & Molecular DX
      Rare Mutations May Help Explain Some Diseases of Aging
      Rare Mutations May Help Explain Some Diseases of Aging
      When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. ...
      Written By: Carmen Leitch
      5
      MAY 01, 2024
      Genetics & Genomics
      The Complex Genetics of a Rare Disorder are Deciphered
      The Complex Genetics of a Rare Disorder are Deciphered
      Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for ...
      Written By: Carmen Leitch
      4
      MAR 04, 2024
      Cell & Molecular Biology
      Cell and gene therapy production - improvements with single-use technologies
      Cell and gene therapy production - improvements with single-use technologies
      With astonishing advances in molecular biology, cell and gene therapies represent a new class of pharmaceuticals availab ...
      Sponsored By: Single Use Support
      4
      FEB 28, 2024
      Clinical & Molecular DX
      Why Cases of Lyme Disease Have Spiked
      Why Cases of Lyme Disease Have Spiked
      Lyme disease occurs when someone is bitten by a deer tick that is carrying pathogenic bacteria called Borrelia burgdorfe ...
      Written By: Carmen Leitch
      5 1
      FEB 18, 2024
      Earth & The Environment
      Rare Crop Chemical Found in 80% of People Tested
      Rare Crop Chemical Found in 80% of People Tested
      Pesticides are frequently used in agriculture, and the term can refer to herbicides, which target weeds; insecticides th ...
      Written By: Carmen Leitch
      4 1
      FEB 15, 2024
      Cardiology
      Exercise Does Not Cancel Out the Heart Risks of Sweetened Drinks
      Exercise Does Not Cancel Out the Heart Risks of Sweetened Drinks
      Sugary drinks could be harming your heart and shortening your lifespan, even if you work out regularly.
      Written By: Savannah Logan
      5
      FEB 06, 2024
      Clinical & Molecular DX
      New Tools Rapidly Detect & Interpret Genetic Mutations
      New Tools Rapidly Detect & Interpret Genetic Mutations
      The detection of rare variants in the genome can take time and cost a lot of money. In recent years, scientists and clin ...
      Written By: Carmen Leitch
      4
      FEB 06, 2024
      Genetics & Genomics
      Another CRISPR-Based Therapy Relieves Patients of Disease Symptoms
      Another CRISPR-Based Therapy Relieves Patients of Disease Symptoms
      The CRISPR gene editing tool was developed about a decade ago, and since then it has transformed research in the life sc ...
      Written By: Carmen Leitch
      4
      JAN 22, 2024
      Clinical & Molecular DX
      Understanding the Cause of Guillain-Barré Syndrome
      Understanding the Cause of Guillain-Barré Syndrome
      Guillain-Barre syndrome (GBS) is an inflammatory disease that affects nerves. It is thought to be an autoimmune disorder ...
      Written By: Carmen Leitch
      4
      JAN 13, 2024
      Technology
      Using UV light to destroy SAR-CoV-2 viruses
      Using UV light to destroy SAR-CoV-2 viruses
      A team of researchers at the University of Southampton have uncovered new details about how to use ultraviolet light to ...
      Written By: Ryan Vingum
      4
      JAN 10, 2024
      Genetics & Genomics
      Cell Waste Disposal Pathway May Open New Treatment Options for Neurodegeneration
      Cell Waste Disposal Pathway May Open New Treatment Options for Neurodegeneration
      Zellweger Spectrum Disorder (ZSD) is a term for a rare group of neurodegenerative disorders that are caused by mutations ...
      Written By: Carmen Leitch
      4
      JAN 09, 2024
      Clinical & Molecular DX
      After Patient Infections, Scientists ID New Species of Bacteria
      After Patient Infections, Scientists ID New Species of Bacteria
      We share the world with trillions of microbes, many of which can be found in the human body. But only a few thousand of ...
      Written By: Carmen Leitch
      4
      JAN 04, 2024
      Immunology
      The Future of Cancer Research
      The Future of Cancer Research
      Since the clinical application of anti-CTLA-4 and anti-PD-1 immunotherapy, treatments targeting the immune system (immun ...
      Written By: Brian G. Morreale
      4
      DEC 26, 2023
      Cannabis Sciences
      Cannabis and Alzheimer's
      Cannabis and Alzheimer's
      Can cannabis help relieve symptoms of Alzheimer's? Here's the details
      Written By: Helaine Krysik
      4
      DEC 14, 2023
      Immunology
      Engineered Immune Cell Therapy Reduces Toxicity in Clinical 1 Trial
      Engineered Immune Cell Therapy Reduces Toxicity in Clinical 1 Trial
      A novel immune cell therapy known as Chimeric Antigen Receptor (CAR) T cell therapy has recently demonstrated efficacy i ...
      Written By: Brian G. Morreale
      5
      DEC 14, 2023
      Immunology
      Gene Editing Technology Approved in US for Sickle Cell Disease
      Gene Editing Technology Approved in US for Sickle Cell Disease
      A gene editing tool using a system known as CRISPR-Cas9 has recently been approved by the U.S. Food and Drug Administrat ...
      Written By: Brian G. Morreale
      6
      DEC 14, 2023
      Microbiology
      Dengue Spreads at Record Rates in a Warming World
      Dengue Spreads at Record Rates in a Warming World
      As the climate changes, mosquitoes are on the move. Humans are also starting to settle down in places that are already c ...
      Written By: Carmen Leitch
      7
    MAY 28, 2025
    Clinical & Molecular DX
    A Faster, Less Invasive Way to Diagnose Rare Diseases in Kids
    A Faster, Less Invasive Way to Diagnose Rare Diseases in Kids
    While genetic testing has advanced, and has enabled clinicians and doctors to provide families with answers when medical ...
    Written By: Carmen Leitch
    3
    MAR 24, 2025
    Cell & Molecular Biology
    A Key Trigger of Immune Overactivity is IDed
    A Key Trigger of Immune Overactivity is IDed
    The immune system is crucial to our health. It must sense pathogens and respond to the threat effectively. But the immun ...
    Written By: Carmen Leitch
    3
    FEB 19, 2025
    Cell & Molecular Biology
    A 'Junk DNA' Mutation That Prevents a Disease
    A 'Junk DNA' Mutation That Prevents a Disease
    Only around two percent of the human genome codes for proteins, and while those proteins carry out many important functi ...
    Written By: Carmen Leitch
    4
    JAN 21, 2025
    Clinical & Molecular DX
    A New Approach Solves Hundreds of Patient Mysteries
    A New Approach Solves Hundreds of Patient Mysteries
    Scientists have provided a diagnosis for 500 European patients who did not know their condition...
    Written By: Carmen Leitch
    3
    JAN 17, 2025
    Genetics & Genomics
    Advanced Genetic Technology Can Solve Rare Disease Mysteries
    Advanced Genetic Technology Can Solve Rare Disease Mysteries
    Genetic sequencing has gone through several advances. A major breakthrough came when scientists began breaking the billi ...
    Written By: Carmen Leitch
    4
     
     
  • DEC 09, 2024
    Genetics & Genomics
    How Errors in a Non-Coding RNA Can Cause Disease
    How Errors in a Non-Coding RNA Can Cause Disease
    The expression of genes has to be very carefully controlled by cells; serious problems can arise when genes are expresse ...
    Written By: Carmen Leitch
    3
    SEP 12, 2024
    Cannabis Sciences
    CBD Shows Promise for Treating Leigh Syndrome
    CBD Shows Promise for Treating Leigh Syndrome
    A new study reports that daily use of cannabidiol (CBD) extends lifespan and improves symptoms of Leigh syndrome in both ...
    Written By: Annie Lennon
    3
    JUN 06, 2024
    Clinical & Molecular DX
    Rare Mutations May Help Explain Some Diseases of Aging
    Rare Mutations May Help Explain Some Diseases of Aging
    When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. ...
    Written By: Carmen Leitch
    5
    MAY 01, 2024
    Genetics & Genomics
    The Complex Genetics of a Rare Disorder are Deciphered
    The Complex Genetics of a Rare Disorder are Deciphered
    Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for ...
    Written By: Carmen Leitch
    4
    MAR 04, 2024
    Cell & Molecular Biology
    Cell and gene therapy production - improvements with single-use technologies
    Cell and gene therapy production - improvements with single-use technologies
    With astonishing advances in molecular biology, cell and gene therapies represent a new class of pharmaceuticals availab ...
    Sponsored By: Single Use Support
    4
     
     
  • FEB 28, 2024
    Clinical & Molecular DX
    Why Cases of Lyme Disease Have Spiked
    Why Cases of Lyme Disease Have Spiked
    Lyme disease occurs when someone is bitten by a deer tick that is carrying pathogenic bacteria called Borrelia burgdorfe ...
    Written By: Carmen Leitch
    5 1
    FEB 18, 2024
    Earth & The Environment
    Rare Crop Chemical Found in 80% of People Tested
    Rare Crop Chemical Found in 80% of People Tested
    Pesticides are frequently used in agriculture, and the term can refer to herbicides, which target weeds; insecticides th ...
    Written By: Carmen Leitch
    4 1
    FEB 15, 2024
    Cardiology
    Exercise Does Not Cancel Out the Heart Risks of Sweetened Drinks
    Exercise Does Not Cancel Out the Heart Risks of Sweetened Drinks
    Sugary drinks could be harming your heart and shortening your lifespan, even if you work out regularly.
    Written By: Savannah Logan
    5
    FEB 06, 2024
    Clinical & Molecular DX
    New Tools Rapidly Detect & Interpret Genetic Mutations
    New Tools Rapidly Detect & Interpret Genetic Mutations
    The detection of rare variants in the genome can take time and cost a lot of money. In recent years, scientists and clin ...
    Written By: Carmen Leitch
    4
    FEB 06, 2024
    Genetics & Genomics
    Another CRISPR-Based Therapy Relieves Patients of Disease Symptoms
    Another CRISPR-Based Therapy Relieves Patients of Disease Symptoms
    The CRISPR gene editing tool was developed about a decade ago, and since then it has transformed research in the life sc ...
    Written By: Carmen Leitch
    4
     
     
  • JAN 22, 2024
    Clinical & Molecular DX
    Understanding the Cause of Guillain-Barré Syndrome
    Understanding the Cause of Guillain-Barré Syndrome
    Guillain-Barre syndrome (GBS) is an inflammatory disease that affects nerves. It is thought to be an autoimmune disorder ...
    Written By: Carmen Leitch
    4
    JAN 13, 2024
    Technology
    Using UV light to destroy SAR-CoV-2 viruses
    Using UV light to destroy SAR-CoV-2 viruses
    A team of researchers at the University of Southampton have uncovered new details about how to use ultraviolet light to ...
    Written By: Ryan Vingum
    4
    JAN 10, 2024
    Genetics & Genomics
    Cell Waste Disposal Pathway May Open New Treatment Options for Neurodegeneration
    Cell Waste Disposal Pathway May Open New Treatment Options for Neurodegeneration
    Zellweger Spectrum Disorder (ZSD) is a term for a rare group of neurodegenerative disorders that are caused by mutations ...
    Written By: Carmen Leitch
    4
    JAN 09, 2024
    Clinical & Molecular DX
    After Patient Infections, Scientists ID New Species of Bacteria
    After Patient Infections, Scientists ID New Species of Bacteria
    We share the world with trillions of microbes, many of which can be found in the human body. But only a few thousand of ...
    Written By: Carmen Leitch
    4
    JAN 04, 2024
    Immunology
    The Future of Cancer Research
    The Future of Cancer Research
    Since the clinical application of anti-CTLA-4 and anti-PD-1 immunotherapy, treatments targeting the immune system (immun ...
    Written By: Brian G. Morreale
    4
     
     
  • DEC 26, 2023
    Cannabis Sciences
    Cannabis and Alzheimer's
    Cannabis and Alzheimer's
    Can cannabis help relieve symptoms of Alzheimer's? Here's the details
    Written By: Helaine Krysik
    4
    DEC 14, 2023
    Immunology
    Engineered Immune Cell Therapy Reduces Toxicity in Clinical 1 Trial
    Engineered Immune Cell Therapy Reduces Toxicity in Clinical 1 Trial
    A novel immune cell therapy known as Chimeric Antigen Receptor (CAR) T cell therapy has recently demonstrated efficacy i ...
    Written By: Brian G. Morreale
    5
    DEC 14, 2023
    Immunology
    Gene Editing Technology Approved in US for Sickle Cell Disease
    Gene Editing Technology Approved in US for Sickle Cell Disease
    A gene editing tool using a system known as CRISPR-Cas9 has recently been approved by the U.S. Food and Drug Administrat ...
    Written By: Brian G. Morreale
    6
    DEC 14, 2023
    Microbiology
    Dengue Spreads at Record Rates in a Warming World
    Dengue Spreads at Record Rates in a Warming World
    As the climate changes, mosquitoes are on the move. Humans are also starting to settle down in places that are already c ...
    Written By: Carmen Leitch
    7
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