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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

    • JUL 31, 2018
      Health & Medicine
      The Gross Things That Lurk in Swimming Pools
      The Gross Things That Lurk in Swimming Pools
      The warmer temperatures associated with Summertime inevitably lead to more swimming pool visits, but have you ever stopp ...
      Written By: Anthony Bouchard
      1
      JUL 30, 2018
      Genetics & Genomics
      Therapeutic Created for a Rare Genetic Disease
      Therapeutic Created for a Rare Genetic Disease
      There is new hope for people that suffer from a rare genetic disease called Hereditary angioedema (HAE).
      Written By: Carmen Leitch
      1
      JUL 23, 2018
      Videos
      Rare Diseases That Changed Medicine
      Rare Diseases That Changed Medicine
      In the US, a disease is considered rare when it affects fewer than 200,000 people in the whole country. But, in Europe, ...
      Written By: Nouran Amin
      2
      JUL 17, 2018
      Drug Discovery & Development
      First Drug for Smallpox Treatment
      First Drug for Smallpox Treatment
      TPOXX (tecovirimat), the first drug with an indication for treatment of smallpox, was just approved by the U.S. Food and ...
      Written By: Nouran Amin
      2
      JUL 11, 2018
      Clinical & Molecular DX
      Certain tests better flag fetuses with brain disorder risk
      Certain tests better flag fetuses with brain disorder risk
      Fetuses with a specific, rare chromosomal aberration have a 20 percent risk of developmental or other brain disorder, ne ...
      Written By: Futurity (futurity.org)
      2
      JUN 20, 2018
      Genetics & Genomics
      The Cause of a Rare Neurological Disease is Identified
      The Cause of a Rare Neurological Disease is Identified
      In a recent study, scientists sequenced the genome to find the mutation behind a disorder that causes blindness and para ...
      Written By: Carmen Leitch
      2
      JUN 19, 2018
      Cardiology
      Autopsies to Understand Heart Disease: What Went Wrong
      Autopsies to Understand Heart Disease: What Went Wrong
      Autopsies aren’t as common as they used to be, but scientists may have a reason for a comeback. A new series of st ...
      Written By: Kara Marker
      3
      JUN 16, 2018
      Videos
      What is Preimplantation Genetic Diagnosis?
      What is Preimplantation Genetic Diagnosis?
      All parents want a healthy baby, and for some people that carry genetic mutations, the decision to have children present ...
      Written By: Carmen Leitch
      1
      JUN 06, 2018
      Drug Discovery & Development
      Metformin Safe for Diabetics with CKD
      Metformin Safe for Diabetics with CKD
      An oral diabetes drug, by the name of metformin, is suggested to be safe for most diabetic individuals with chronic kidn ...
      Written By: Nouran Amin
      2 2
      MAY 30, 2018
      Drug Discovery & Development
      Non-Diet Therapy For PKU
      Non-Diet Therapy For PKU
      Phenylketonuria (PKU) is a rare inherited disorder that results an amino acid known as phenylalanine to build up in the ...
      Written By: Nouran Amin
      2
      MAY 28, 2018
      Cancer
      Wilms Tumor Clinical Trial Combined Chemo Treatment Results in Reduced Use of Radiotherapy for Lung Metastases
      Wilms Tumor Clinical Trial Combined Chemo Treatment Results in Reduced Use of Radiotherapy for Lung Metastases
      Wilms tumors occur in young children and treatment for lung metastases has included radiotherapy. A Phase III Clinical ...
      Written By: Mauri Brueggeman
      2
      MAY 23, 2018
      Clinical & Molecular DX
      Rapidly Screening Genes in 'Living Test Tubes'
      Rapidly Screening Genes in 'Living Test Tubes'
      Diagnosing rare disorders is often extremely challenging. Now scientists have developed a new tool for that purpose.
      Written By: Carmen Leitch
      2
      APR 15, 2018
      Genetics & Genomics
      Gene Mutation Associated with Intellectual Dysfunction ID'ed
      Gene Mutation Associated with Intellectual Dysfunction ID'ed
      Researchers has revealed a previously unknown genetic mutation that is correlated with a variety of serious intellectual ...
      Written By: Carmen Leitch
      2
      JAN 31, 2018
      Clinical & Molecular DX
      Scientists Diagnose Rare Condition Affecting Vitamin B12 Processing
      Scientists Diagnose Rare Condition Affecting Vitamin B12 Processing
      A new discovery is making scientists rethink everything they know about rare hereditary diseases. One genetic mechanism ...
      Written By: Kara Marker
      3
      DEC 16, 2017
      Genetics & Genomics
      Using Gene Therapy to Treat Type 1 Diabetes
      Using Gene Therapy to Treat Type 1 Diabetes
      Some diseases are directly related to dysfunction in the immune system, like type 1 diabetes. Scientists want to use rep ...
      Written By: Carmen Leitch
      2
      DEC 10, 2017
      Drug Discovery & Development
      First Adeno-Associated Virus Gene Therapy to be FDA Approved for Rare Retinal Disease
      First Adeno-Associated Virus Gene Therapy to be FDA Approved for Rare Retinal Disease
      AAV viral vector gene delivery will soon be approved for FDA approval, and will likely just be the first of many proving ...
      Written By: Courtney Schaal
      2
      NOV 29, 2017
      Health & Medicine
      Rare Red Meat Allergy to Blame for Unexplained Anaphylaxis
      Rare Red Meat Allergy to Blame for Unexplained Anaphylaxis
      Unexplained bouts of anaphylaxis, a serious allergic reaction, could be a direct result of a rare allergy to meat origin ...
      Written By: Kara Marker
      3
      NOV 20, 2017
      Genetics & Genomics
      In a First, CRISPR Gene Editing Used in an Adult
      In a First, CRISPR Gene Editing Used in an Adult
      CRISPR gene editing is being attempted for the first time in an adult; the patient has a disease called Hunter Syndrome.
      Written By: Carmen Leitch
      3
      NOV 19, 2017
      Clinical & Molecular DX
      Can Creutzfeldt-Jakob Disease be Diagnosed Before Death?
      Can Creutzfeldt-Jakob Disease be Diagnosed Before Death?
      Here's a test thatdetects the presence of abnormal proteins indicative of a deadly prion disease known as Creutzfeldt-Ja ...
      Written By: Xuan Pham
      2
      NOV 12, 2017
      Drug Discovery & Development
      Waging a War on Antibiotic Resistant Bacteria
      Waging a War on Antibiotic Resistant Bacteria
      Bacteria has continued to evolve, becoming resistant to antibiotics, but scientists have found a screen to help combat t ...
      Written By: Courtney Schaal
      3
      NOV 11, 2017
      Clinical & Molecular DX
      'Butterfly Child' Given New Skin Thanks to Gene Therapy
      'Butterfly Child' Given New Skin Thanks to Gene Therapy
      A boy whose extremely fragile skin, like that of a butterfly, has been saved by an experimental therapy. The first-of-it ...
      Written By: Xuan Pham
      2
      NOV 02, 2017
      Immunology
      Atlantic Rainforest Fruit Trees Have Powerful Antioxidant Properties
      Atlantic Rainforest Fruit Trees Have Powerful Antioxidant Properties
      Five fruits from trees found in Brazil’s Atlantic Rainforest may be even better for us than blueberries, blackberr ...
      Written By: Kara Marker
      4
      OCT 28, 2017
      Cell & Molecular Biology
      Alzheimer's Disease Identified in Dolphins
      Alzheimer's Disease Identified in Dolphins
      Humans are not alone in developing Alzheimer's Disease, although it is seen in very few other species.
      Written By: Carmen Leitch
      2
      OCT 21, 2017
      Genetics & Genomics
      Understanding a Rare Liver Disorder so it can be Treated
      Understanding a Rare Liver Disorder so it can be Treated
      Scientists have learned more about a genetic disorder that affects the liver, revealing potential new therapeutic avenue ...
      Written By: Carmen Leitch
      2
    JUL 31, 2018
    Health & Medicine
    The Gross Things That Lurk in Swimming Pools
    The Gross Things That Lurk in Swimming Pools
    The warmer temperatures associated with Summertime inevitably lead to more swimming pool visits, but have you ever stopp ...
    Written By: Anthony Bouchard
    1
    JUL 30, 2018
    Genetics & Genomics
    Therapeutic Created for a Rare Genetic Disease
    Therapeutic Created for a Rare Genetic Disease
    There is new hope for people that suffer from a rare genetic disease called Hereditary angioedema (HAE).
    Written By: Carmen Leitch
    1
    JUL 23, 2018
    Videos
    Rare Diseases That Changed Medicine
    Rare Diseases That Changed Medicine
    In the US, a disease is considered rare when it affects fewer than 200,000 people in the whole country. But, in Europe, ...
    Written By: Nouran Amin
    2
    JUL 17, 2018
    Drug Discovery & Development
    First Drug for Smallpox Treatment
    First Drug for Smallpox Treatment
    TPOXX (tecovirimat), the first drug with an indication for treatment of smallpox, was just approved by the U.S. Food and ...
    Written By: Nouran Amin
    2
    JUL 11, 2018
    Clinical & Molecular DX
    Certain tests better flag fetuses with brain disorder risk
    Certain tests better flag fetuses with brain disorder risk
    Fetuses with a specific, rare chromosomal aberration have a 20 percent risk of developmental or other brain disorder, ne ...
    Written By: Futurity (futurity.org)
    2
     
     
  • JUN 20, 2018
    Genetics & Genomics
    The Cause of a Rare Neurological Disease is Identified
    The Cause of a Rare Neurological Disease is Identified
    In a recent study, scientists sequenced the genome to find the mutation behind a disorder that causes blindness and para ...
    Written By: Carmen Leitch
    2
    JUN 19, 2018
    Cardiology
    Autopsies to Understand Heart Disease: What Went Wrong
    Autopsies to Understand Heart Disease: What Went Wrong
    Autopsies aren’t as common as they used to be, but scientists may have a reason for a comeback. A new series of st ...
    Written By: Kara Marker
    3
    JUN 16, 2018
    Videos
    What is Preimplantation Genetic Diagnosis?
    What is Preimplantation Genetic Diagnosis?
    All parents want a healthy baby, and for some people that carry genetic mutations, the decision to have children present ...
    Written By: Carmen Leitch
    1
    JUN 06, 2018
    Drug Discovery & Development
    Metformin Safe for Diabetics with CKD
    Metformin Safe for Diabetics with CKD
    An oral diabetes drug, by the name of metformin, is suggested to be safe for most diabetic individuals with chronic kidn ...
    Written By: Nouran Amin
    2 2
    MAY 30, 2018
    Drug Discovery & Development
    Non-Diet Therapy For PKU
    Non-Diet Therapy For PKU
    Phenylketonuria (PKU) is a rare inherited disorder that results an amino acid known as phenylalanine to build up in the ...
    Written By: Nouran Amin
    2
     
     
  • MAY 28, 2018
    Cancer
    Wilms Tumor Clinical Trial Combined Chemo Treatment Results in Reduced Use of Radiotherapy for Lung Metastases
    Wilms Tumor Clinical Trial Combined Chemo Treatment Results in Reduced Use of Radiotherapy for Lung Metastases
    Wilms tumors occur in young children and treatment for lung metastases has included radiotherapy. A Phase III Clinical ...
    Written By: Mauri Brueggeman
    2
    MAY 23, 2018
    Clinical & Molecular DX
    Rapidly Screening Genes in 'Living Test Tubes'
    Rapidly Screening Genes in 'Living Test Tubes'
    Diagnosing rare disorders is often extremely challenging. Now scientists have developed a new tool for that purpose.
    Written By: Carmen Leitch
    2
    APR 15, 2018
    Genetics & Genomics
    Gene Mutation Associated with Intellectual Dysfunction ID'ed
    Gene Mutation Associated with Intellectual Dysfunction ID'ed
    Researchers has revealed a previously unknown genetic mutation that is correlated with a variety of serious intellectual ...
    Written By: Carmen Leitch
    2
    JAN 31, 2018
    Clinical & Molecular DX
    Scientists Diagnose Rare Condition Affecting Vitamin B12 Processing
    Scientists Diagnose Rare Condition Affecting Vitamin B12 Processing
    A new discovery is making scientists rethink everything they know about rare hereditary diseases. One genetic mechanism ...
    Written By: Kara Marker
    3
    DEC 16, 2017
    Genetics & Genomics
    Using Gene Therapy to Treat Type 1 Diabetes
    Using Gene Therapy to Treat Type 1 Diabetes
    Some diseases are directly related to dysfunction in the immune system, like type 1 diabetes. Scientists want to use rep ...
    Written By: Carmen Leitch
    2
     
     
  • DEC 10, 2017
    Drug Discovery & Development
    First Adeno-Associated Virus Gene Therapy to be FDA Approved for Rare Retinal Disease
    First Adeno-Associated Virus Gene Therapy to be FDA Approved for Rare Retinal Disease
    AAV viral vector gene delivery will soon be approved for FDA approval, and will likely just be the first of many proving ...
    Written By: Courtney Schaal
    2
    NOV 29, 2017
    Health & Medicine
    Rare Red Meat Allergy to Blame for Unexplained Anaphylaxis
    Rare Red Meat Allergy to Blame for Unexplained Anaphylaxis
    Unexplained bouts of anaphylaxis, a serious allergic reaction, could be a direct result of a rare allergy to meat origin ...
    Written By: Kara Marker
    3
    NOV 20, 2017
    Genetics & Genomics
    In a First, CRISPR Gene Editing Used in an Adult
    In a First, CRISPR Gene Editing Used in an Adult
    CRISPR gene editing is being attempted for the first time in an adult; the patient has a disease called Hunter Syndrome.
    Written By: Carmen Leitch
    3
    NOV 19, 2017
    Clinical & Molecular DX
    Can Creutzfeldt-Jakob Disease be Diagnosed Before Death?
    Can Creutzfeldt-Jakob Disease be Diagnosed Before Death?
    Here's a test thatdetects the presence of abnormal proteins indicative of a deadly prion disease known as Creutzfeldt-Ja ...
    Written By: Xuan Pham
    2
    NOV 12, 2017
    Drug Discovery & Development
    Waging a War on Antibiotic Resistant Bacteria
    Waging a War on Antibiotic Resistant Bacteria
    Bacteria has continued to evolve, becoming resistant to antibiotics, but scientists have found a screen to help combat t ...
    Written By: Courtney Schaal
    3
     
     
  • NOV 11, 2017
    Clinical & Molecular DX
    'Butterfly Child' Given New Skin Thanks to Gene Therapy
    'Butterfly Child' Given New Skin Thanks to Gene Therapy
    A boy whose extremely fragile skin, like that of a butterfly, has been saved by an experimental therapy. The first-of-it ...
    Written By: Xuan Pham
    2
    NOV 02, 2017
    Immunology
    Atlantic Rainforest Fruit Trees Have Powerful Antioxidant Properties
    Atlantic Rainforest Fruit Trees Have Powerful Antioxidant Properties
    Five fruits from trees found in Brazil’s Atlantic Rainforest may be even better for us than blueberries, blackberr ...
    Written By: Kara Marker
    4
    OCT 28, 2017
    Cell & Molecular Biology
    Alzheimer's Disease Identified in Dolphins
    Alzheimer's Disease Identified in Dolphins
    Humans are not alone in developing Alzheimer's Disease, although it is seen in very few other species.
    Written By: Carmen Leitch
    2
    OCT 21, 2017
    Genetics & Genomics
    Understanding a Rare Liver Disorder so it can be Treated
    Understanding a Rare Liver Disorder so it can be Treated
    Scientists have learned more about a genetic disorder that affects the liver, revealing potential new therapeutic avenue ...
    Written By: Carmen Leitch
    2
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