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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

    • NOV 25, 2019
      Drug Discovery & Development
      Discovery of mechanism behind Alexander disease may lead to enhanced drug development
      Discovery of mechanism behind Alexander disease may lead to enhanced drug development
      Researchers have long known that the cause behind Alexander disease is a genetic culprit—mainly a mutation leading ...
      Written By: Nouran Amin
      1
      NOV 23, 2019
      Cancer
      Anal cancer rates increase twofold
      Anal cancer rates increase twofold
      Anal cancer has been on the rise in the United States, and while it may not garner as much attention as other cancers, m ...
      Written By: Kathryn DeMuth Sullivan
      1
      NOV 20, 2019
      Health & Medicine
      Could your bedding make you sick?
      Could your bedding make you sick?
      Do you use duvets or pillows filled with goose or duck feathers? While indeed cozy, doctors have issued a new warning re ...
      Written By: Tiffany Dazet
      1
      NOV 14, 2019
      Cell & Molecular Biology
      Scientists Find a Non-Invasive Way to Detect Prions
      Scientists Find a Non-Invasive Way to Detect Prions
      Misfolded proteins, also called prions, can cause a host of problems, including neurodegenerative disorders.
      Written By: Carmen Leitch
      2
      NOV 12, 2019
      Cancer
      Hair follicles: an origin point for melanoma
      Hair follicles: an origin point for melanoma
      As far as skin cancers go, advanced invasive melanoma is quite aggressive – treatment options are still lacking ef ...
      Written By: Kathryn DeMuth Sullivan
      2
      NOV 10, 2019
      Microbiology
      A New Strain of HIV is Identified
      A New Strain of HIV is Identified
      For the first time since 2000, researchers have identified a new subtype of HIV.
      Written By: Carmen Leitch
      1
      NOV 10, 2019
      Neuroscience
      Gene Mutation Identified that Protects Agaist Dementia
      Gene Mutation Identified that Protects Agaist Dementia
      For over two decades, researchers have been studying an extended family of over 1,200 people from Columbia known for hav ...
      Written By: Annie Lennon
      1
      NOV 09, 2019
      Cancer
      Using machine learning to discover new cancer treatments
      Using machine learning to discover new cancer treatments
      Flashback fifty years ago and many of the modern world’s inventions and discoveries would have been undreamed of & ...
      Written By: Kathryn DeMuth Sullivan
      2 3
      NOV 07, 2019
      Clinical & Molecular DX
      A Revealing Look at Rare Disease Incidence
      A Revealing Look at Rare Disease Incidence
      Being diagnosed with a rare disease can be especially terrifying for patients. After all, many of these diseases have no ...
      Written By: Abbie Arce
      1
      OCT 31, 2019
      Microbiology
      The Rare Syndrome That Causes People to Produce Alcohol in Their Gut
      The Rare Syndrome That Causes People to Produce Alcohol in Their Gut
      Some people are affected by a syndrome in which their gut microbes generate enough alcohol to cause symptoms of intoxica ...
      Written By: Carmen Leitch
      1
      OCT 28, 2019
      Cell & Molecular Biology
      Learning More About the Significant Roles of Tiny Proteins
      Learning More About the Significant Roles of Tiny Proteins
      A microprotein was found to play an important role in relieving cell stress, and may open up new therapeutic avenues for ...
      Written By: Carmen Leitch
      1
      OCT 22, 2019
      Technology
      Machine-Learning and Epigenetics Drug Discovery
      Machine-Learning and Epigenetics Drug Discovery
      Machine learning is known for detecting patterns seen in complex data—such uniqueness has proven it roles in healt ...
      Written By: Nouran Amin
      1
      OCT 15, 2019
      Cancer
      New hope for mesothelioma treatment
      New hope for mesothelioma treatment
      Mesothelioma is a very rare kind of malignant tumor that is caused by inhaled asbestos fibers and forms in the lining of ...
      Written By: Kathryn DeMuth Sullivan
      1
      OCT 14, 2019
      Genetics & Genomics
      Researchers Develop a Score to Quantify the Risk of Epilepsy
      Researchers Develop a Score to Quantify the Risk of Epilepsy
      It usually takes two seizures before a person can be diagnosed with epilepsy. New work can help change that.
      Written By: Carmen Leitch
      1
      OCT 13, 2019
      Genetics & Genomics
      New Tool Can Reveal Genes Underlying Rare Disorders
      New Tool Can Reveal Genes Underlying Rare Disorders
      Finding the gene defect that resulted in an inherited disease used to be a long, painstaking process.
      Written By: Carmen Leitch
      1
      OCT 11, 2019
      Genetics & Genomics
      Genetic Link to SIDS is Revealed
      Genetic Link to SIDS is Revealed
      Around 3,500 American babies die of sudden unexpected infant death every year.
      Written By: Carmen Leitch
      1
      OCT 10, 2019
      Cardiology
      Parkinson's Disease is Present in the Blood
      Parkinson's Disease is Present in the Blood
      Parkinson's disease is a progressive disorder of the nervous system. Often starting with a barely noticeable tremor ...
      Written By: Abbie Arce
      1
      OCT 10, 2019
      Health & Medicine
      All you need to know about Orphan Drugs
      All you need to know about Orphan Drugs
      Orphan drugs are medicinal products intended for the diagnosis, prevention, or treatment of very rare life-threatening d ...
      Written By: Liat Ben-Senior
      1
      OCT 09, 2019
      Drug Discovery & Development
      Tailor-made Drug for Girl with Rare Genetic Disease
      Tailor-made Drug for Girl with Rare Genetic Disease
      Researchers have used personalized medicine to develop a tailor-made genetic treatment for a girl diagnosed with a rare ...
      Written By: Annie Lennon
      2
      OCT 09, 2019
      Cardiology
      Diagnosed With Atopic Dermatitis?
      Diagnosed With Atopic Dermatitis?
      Eczema, dermatitis, atopic dermatitis: all names for the same disease of the skin. Although common in children during th ...
      Written By: Abbie Arce
      1
      SEP 29, 2019
      Cannabis Sciences
      CBD Alleviates Angelman Syndrome Seizures in Mice Trial
      CBD Alleviates Angelman Syndrome Seizures in Mice Trial
      CBD has already been shown to be effective as an anti-anxiety, antipsychotic and anti-epileptic substance. Can it help y ...
      Written By: Julia Travers
      1
      SEP 27, 2019
      Drug Discovery & Development
      AI Exponentially Accelerates Drug Development
      AI Exponentially Accelerates Drug Development
      Research and development for new drugs is both an expensive and lengthy process, often lasting years, if not decades. Wi ...
      Written By: Annie Lennon
      1
      SEP 27, 2019
      Immunology
      Diseases We Share with Our Canine Companions: Autoimmune Encephalitis in Dogs
      Diseases We Share with Our Canine Companions: Autoimmune Encephalitis in Dogs
      Like humans, dogs can develop autoimmune encephalitis, and it’s common - mostly affecting smaller breeds and young ...
      Written By: Kara Marker
      1
      SEP 25, 2019
      Microbiology
      A Mosquito-borne Disease Called EEE is Spreading This Year
      A Mosquito-borne Disease Called EEE is Spreading This Year
      Massachusetts health officials confirmed yesterday that a third person has died from Eastern Equine Encephalitis this ye ...
      Written By: Carmen Leitch
      1
    NOV 25, 2019
    Drug Discovery & Development
    Discovery of mechanism behind Alexander disease may lead to enhanced drug development
    Discovery of mechanism behind Alexander disease may lead to enhanced drug development
    Researchers have long known that the cause behind Alexander disease is a genetic culprit—mainly a mutation leading ...
    Written By: Nouran Amin
    1
    NOV 23, 2019
    Cancer
    Anal cancer rates increase twofold
    Anal cancer rates increase twofold
    Anal cancer has been on the rise in the United States, and while it may not garner as much attention as other cancers, m ...
    Written By: Kathryn DeMuth Sullivan
    1
    NOV 20, 2019
    Health & Medicine
    Could your bedding make you sick?
    Could your bedding make you sick?
    Do you use duvets or pillows filled with goose or duck feathers? While indeed cozy, doctors have issued a new warning re ...
    Written By: Tiffany Dazet
    1
    NOV 14, 2019
    Cell & Molecular Biology
    Scientists Find a Non-Invasive Way to Detect Prions
    Scientists Find a Non-Invasive Way to Detect Prions
    Misfolded proteins, also called prions, can cause a host of problems, including neurodegenerative disorders.
    Written By: Carmen Leitch
    2
    NOV 12, 2019
    Cancer
    Hair follicles: an origin point for melanoma
    Hair follicles: an origin point for melanoma
    As far as skin cancers go, advanced invasive melanoma is quite aggressive – treatment options are still lacking ef ...
    Written By: Kathryn DeMuth Sullivan
    2
     
     
  • NOV 10, 2019
    Microbiology
    A New Strain of HIV is Identified
    A New Strain of HIV is Identified
    For the first time since 2000, researchers have identified a new subtype of HIV.
    Written By: Carmen Leitch
    1
    NOV 10, 2019
    Neuroscience
    Gene Mutation Identified that Protects Agaist Dementia
    Gene Mutation Identified that Protects Agaist Dementia
    For over two decades, researchers have been studying an extended family of over 1,200 people from Columbia known for hav ...
    Written By: Annie Lennon
    1
    NOV 09, 2019
    Cancer
    Using machine learning to discover new cancer treatments
    Using machine learning to discover new cancer treatments
    Flashback fifty years ago and many of the modern world’s inventions and discoveries would have been undreamed of & ...
    Written By: Kathryn DeMuth Sullivan
    2 3
    NOV 07, 2019
    Clinical & Molecular DX
    A Revealing Look at Rare Disease Incidence
    A Revealing Look at Rare Disease Incidence
    Being diagnosed with a rare disease can be especially terrifying for patients. After all, many of these diseases have no ...
    Written By: Abbie Arce
    1
    OCT 31, 2019
    Microbiology
    The Rare Syndrome That Causes People to Produce Alcohol in Their Gut
    The Rare Syndrome That Causes People to Produce Alcohol in Their Gut
    Some people are affected by a syndrome in which their gut microbes generate enough alcohol to cause symptoms of intoxica ...
    Written By: Carmen Leitch
    1
     
     
  • OCT 28, 2019
    Cell & Molecular Biology
    Learning More About the Significant Roles of Tiny Proteins
    Learning More About the Significant Roles of Tiny Proteins
    A microprotein was found to play an important role in relieving cell stress, and may open up new therapeutic avenues for ...
    Written By: Carmen Leitch
    1
    OCT 22, 2019
    Technology
    Machine-Learning and Epigenetics Drug Discovery
    Machine-Learning and Epigenetics Drug Discovery
    Machine learning is known for detecting patterns seen in complex data—such uniqueness has proven it roles in healt ...
    Written By: Nouran Amin
    1
    OCT 15, 2019
    Cancer
    New hope for mesothelioma treatment
    New hope for mesothelioma treatment
    Mesothelioma is a very rare kind of malignant tumor that is caused by inhaled asbestos fibers and forms in the lining of ...
    Written By: Kathryn DeMuth Sullivan
    1
    OCT 14, 2019
    Genetics & Genomics
    Researchers Develop a Score to Quantify the Risk of Epilepsy
    Researchers Develop a Score to Quantify the Risk of Epilepsy
    It usually takes two seizures before a person can be diagnosed with epilepsy. New work can help change that.
    Written By: Carmen Leitch
    1
    OCT 13, 2019
    Genetics & Genomics
    New Tool Can Reveal Genes Underlying Rare Disorders
    New Tool Can Reveal Genes Underlying Rare Disorders
    Finding the gene defect that resulted in an inherited disease used to be a long, painstaking process.
    Written By: Carmen Leitch
    1
     
     
  • OCT 11, 2019
    Genetics & Genomics
    Genetic Link to SIDS is Revealed
    Genetic Link to SIDS is Revealed
    Around 3,500 American babies die of sudden unexpected infant death every year.
    Written By: Carmen Leitch
    1
    OCT 10, 2019
    Cardiology
    Parkinson's Disease is Present in the Blood
    Parkinson's Disease is Present in the Blood
    Parkinson's disease is a progressive disorder of the nervous system. Often starting with a barely noticeable tremor ...
    Written By: Abbie Arce
    1
    OCT 10, 2019
    Health & Medicine
    All you need to know about Orphan Drugs
    All you need to know about Orphan Drugs
    Orphan drugs are medicinal products intended for the diagnosis, prevention, or treatment of very rare life-threatening d ...
    Written By: Liat Ben-Senior
    1
    OCT 09, 2019
    Drug Discovery & Development
    Tailor-made Drug for Girl with Rare Genetic Disease
    Tailor-made Drug for Girl with Rare Genetic Disease
    Researchers have used personalized medicine to develop a tailor-made genetic treatment for a girl diagnosed with a rare ...
    Written By: Annie Lennon
    2
    OCT 09, 2019
    Cardiology
    Diagnosed With Atopic Dermatitis?
    Diagnosed With Atopic Dermatitis?
    Eczema, dermatitis, atopic dermatitis: all names for the same disease of the skin. Although common in children during th ...
    Written By: Abbie Arce
    1
     
     
  • SEP 29, 2019
    Cannabis Sciences
    CBD Alleviates Angelman Syndrome Seizures in Mice Trial
    CBD Alleviates Angelman Syndrome Seizures in Mice Trial
    CBD has already been shown to be effective as an anti-anxiety, antipsychotic and anti-epileptic substance. Can it help y ...
    Written By: Julia Travers
    1
    SEP 27, 2019
    Drug Discovery & Development
    AI Exponentially Accelerates Drug Development
    AI Exponentially Accelerates Drug Development
    Research and development for new drugs is both an expensive and lengthy process, often lasting years, if not decades. Wi ...
    Written By: Annie Lennon
    1
    SEP 27, 2019
    Immunology
    Diseases We Share with Our Canine Companions: Autoimmune Encephalitis in Dogs
    Diseases We Share with Our Canine Companions: Autoimmune Encephalitis in Dogs
    Like humans, dogs can develop autoimmune encephalitis, and it’s common - mostly affecting smaller breeds and young ...
    Written By: Kara Marker
    1
    SEP 25, 2019
    Microbiology
    A Mosquito-borne Disease Called EEE is Spreading This Year
    A Mosquito-borne Disease Called EEE is Spreading This Year
    Massachusetts health officials confirmed yesterday that a third person has died from Eastern Equine Encephalitis this ye ...
    Written By: Carmen Leitch
    1
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