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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 10, 2016
      Genetics & Genomics
      Rare Skull Fusion Disorder Caused By Gene Variant
      Rare Skull Fusion Disorder Caused By Gene Variant
      When the bones of an infant’s skull fuse too early, the growing brain is dangerously confined to a small space, ca ...
      Written By: Kara Marker
      3
      SEP 01, 2016
      Cardiology
      A Stem Cell Model of Hypertrophic Cardiomyopathy
      A Stem Cell Model of Hypertrophic Cardiomyopathy
      A series of genetic disorders, some rare and some common, are connected to a heart condition that can cause sudden cardi ...
      Written By: Kara Marker
      4
      AUG 26, 2016
      Immunology
      Scientists Discover New Inflammatory Disease: Otulipenia
      Scientists Discover New Inflammatory Disease: Otulipenia
      When four children from Pakistani and Turkish families presented with skin rashes and inflamed joints that doctors could ...
      Written By: Kara Marker
      3
      AUG 23, 2016
      Cancer
      Eye Color and Eye Cancer are Linked, Reports New Study
      Eye Color and Eye Cancer are Linked, Reports New Study
      Blue and green eyes are exotic and beautiful, but researchers are finding that there’s a price attached to these c ...
      Written By: Xuan Pham
      3
      JUL 29, 2016
      Cancer
      Paleo Diet Apparently Not Enough to Prevent Cancer
      Paleo Diet Apparently Not Enough to Prevent Cancer
      Cancer is thought to be an affliction of modern age – a result of exposure to environmental and dietary carcinogen ...
      Written By: Xuan Pham
      3
      JUL 23, 2016
      Health & Medicine
      Research on Rare Gaucher Disease Helps Pinpoint Treatment for Parkinson's Disease
      Research on Rare Gaucher Disease Helps Pinpoint Treatment for Parkinson's Disease
      You have probably heard of Parkinson’s Disease (PD), the second most common neurodegenerative disorder after Alzhe ...
      Written By: Cassidy Reich
      3
      JUL 13, 2016
      Clinical & Molecular DX
      Diagnosed: Woman Contracted Sepsis from Her Dog's Licks
      Diagnosed: Woman Contracted Sepsis from Her Dog's Licks
      In a new study, ominously titled “The Lick of Death,” doctors report friendly licks from her beloved Italian ...
      Written By: Xuan Pham
      4
      JUN 27, 2016
      Genetics & Genomics
      DNA Sequencing Enhances Brain Disease Diagnoses
      DNA Sequencing Enhances Brain Disease Diagnoses
      Almost 80,000 people die each year worldwide due to brain inflammation diseases, and it’s hard to know how many of ...
      Written By: Kara Marker
      3
      JUN 02, 2016
      Health & Medicine
      Diagnosing Rare Newborn Diseases with New Genetic Sequencing
      Diagnosing Rare Newborn Diseases with New Genetic Sequencing
      For newborns in neonatal intensive care units with rare and complex diseases that doctors do not come across on a regula ...
      Written By: Kara Marker
      4
      MAY 24, 2016
      Cardiology
      Rare Gene Deletion Prevents Atherosclerosis
      Rare Gene Deletion Prevents Atherosclerosis
      Recent studies analyzing the global burden of atherosclerosis, a buildup of plaque in the blood vessels that leads to co ...
      Written By: Kara Marker
      3
      MAY 24, 2016
      Cell & Molecular Biology
      Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
      Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
      Men tend to lose the Y chromosome from blood cells as they age, called LOY, and that loss appears to be compounded by so ...
      Written By: Carmen Leitch
      3
      MAY 04, 2016
      Neuroscience
      Macrophages Repair Microbleeds in the Brain
      Macrophages Repair Microbleeds in the Brain
      Rupture of small blood vessels in the brain can cause hemorrhagic stroke and brain microbleeds, and finding the fastest ...
      Written By: Kara Marker
      4
      MAY 02, 2016
      Health & Medicine
      Human Protein Helps Hepatitis C Spread
      Human Protein Helps Hepatitis C Spread
      For people with a certain gene mutation, metabolizing fat can be much harder for the body to do than it would be for a h ...
      Written By: Kara Marker
      3
      MAY 02, 2016
      Health & Medicine
      Designing A Faster, Better, Stronger Immune Response
      Designing A Faster, Better, Stronger Immune Response
      It is the antibodies that detect pathogens in order to fight infections and prevent disease, but there is an entire team ...
      Written By: Kara Marker
      3
      APR 22, 2016
      Health & Medicine
      Monocyte-Based Cell Therapy to Treat Macrophage Malfunction
      Monocyte-Based Cell Therapy to Treat Macrophage Malfunction
      Macrophages exist in every type of body tissue, in the lungs as alveolar macrophages and in the liver as Kupffer cells. ...
      Written By: Kara Marker
      6
      APR 19, 2016
      Genetics & Genomics
      Studying Genetic Resilience to Severe Mendelian Childhood Diseases
      Studying Genetic Resilience to Severe Mendelian Childhood Diseases
      When we think of genetic mutations we usually think of the mutations that cause disease, but protective mutations are an ...
      Written By: Cassidy Reich
      2
      APR 14, 2016
      Clinical & Molecular DX
      Improved Detection Of Deadly Prion Diseases
      Improved Detection Of Deadly Prion Diseases
      Prion diseases are rare and deadly diseases of the brain. Once infected, the prion particles self-propagates and convert ...
      Written By: Xuan Pham
      3
      APR 11, 2016
      Health & Medicine
      Risk Factor for Celiac Disease Found in Junk DNA
      Risk Factor for Celiac Disease Found in Junk DNA
      Celiac disease is an autoimmune disorder that is directly related to a misdirected immune response to gluten, a protein ...
      Written By: Kara Marker
      3 1
      APR 06, 2016
      Immunology
      TSRI Scientists Get First-Ever Glimpse of ‘Teenage' HIV-Neutralizing Antibody
      TSRI Scientists Get First-Ever Glimpse of ‘Teenage' HIV-Neutralizing Antibody
      Scientists at The Scripps Research Institute (TSRI) and collaborating institutions have described the first-ever immatur ...
      Written By: The Scripps Research Institute (TSRI)
      3
      APR 04, 2016
      Clinical & Molecular DX
      On-Demand Drug Production From a Fridge-Sized Machine
      On-Demand Drug Production From a Fridge-Sized Machine
      Moving away from the design of massive pharmaceutical plants, MIT researchers developed a small, transportable machine t ...
      Written By: Xuan Pham
      4
      MAR 18, 2016
      Clinical & Molecular DX
      Infrared Sensor for the Detection of Alzheimer from Blood
      Infrared Sensor for the Detection of Alzheimer from Blood
      In the past several months, researchers have been focusing on easier point-of-care tests that offer early detection of d ...
      Written By: Xuan Pham
      3
      FEB 21, 2016
      Clinical & Molecular DX
      How the "Toxo" Parasite Sneaks into the Brain
      How the "Toxo" Parasite Sneaks into the Brain
      A staggering 30-50% of the world’s population is estimated to be infected with the parasite Toxoplasma gondii. Thi ...
      Written By: Xuan Pham
      5
      FEB 11, 2016
      Cardiology
      Treating TTP with Synthetic Antibodies
      Treating TTP with Synthetic Antibodies
      Rare but deadly, thrombotic thrombocytopenic purpura (TTP) is a disease where blood clots block the smallest blood vesse ...
      Written By: Kara Marker
      4
      FEB 07, 2016
      Videos
      10 Bizarre Diseases With No Cure
      10 Bizarre Diseases With No Cure
      The pace of technology, medicine, and science advancement is faster now than ever before. We've innovated vaccines that ...
      Written By: Xuan Pham
      3
    SEP 10, 2016
    Genetics & Genomics
    Rare Skull Fusion Disorder Caused By Gene Variant
    Rare Skull Fusion Disorder Caused By Gene Variant
    When the bones of an infant’s skull fuse too early, the growing brain is dangerously confined to a small space, ca ...
    Written By: Kara Marker
    3
    SEP 01, 2016
    Cardiology
    A Stem Cell Model of Hypertrophic Cardiomyopathy
    A Stem Cell Model of Hypertrophic Cardiomyopathy
    A series of genetic disorders, some rare and some common, are connected to a heart condition that can cause sudden cardi ...
    Written By: Kara Marker
    4
    AUG 26, 2016
    Immunology
    Scientists Discover New Inflammatory Disease: Otulipenia
    Scientists Discover New Inflammatory Disease: Otulipenia
    When four children from Pakistani and Turkish families presented with skin rashes and inflamed joints that doctors could ...
    Written By: Kara Marker
    3
    AUG 23, 2016
    Cancer
    Eye Color and Eye Cancer are Linked, Reports New Study
    Eye Color and Eye Cancer are Linked, Reports New Study
    Blue and green eyes are exotic and beautiful, but researchers are finding that there’s a price attached to these c ...
    Written By: Xuan Pham
    3
    JUL 29, 2016
    Cancer
    Paleo Diet Apparently Not Enough to Prevent Cancer
    Paleo Diet Apparently Not Enough to Prevent Cancer
    Cancer is thought to be an affliction of modern age – a result of exposure to environmental and dietary carcinogen ...
    Written By: Xuan Pham
    3
     
     
  • JUL 23, 2016
    Health & Medicine
    Research on Rare Gaucher Disease Helps Pinpoint Treatment for Parkinson's Disease
    Research on Rare Gaucher Disease Helps Pinpoint Treatment for Parkinson's Disease
    You have probably heard of Parkinson’s Disease (PD), the second most common neurodegenerative disorder after Alzhe ...
    Written By: Cassidy Reich
    3
    JUL 13, 2016
    Clinical & Molecular DX
    Diagnosed: Woman Contracted Sepsis from Her Dog's Licks
    Diagnosed: Woman Contracted Sepsis from Her Dog's Licks
    In a new study, ominously titled “The Lick of Death,” doctors report friendly licks from her beloved Italian ...
    Written By: Xuan Pham
    4
    JUN 27, 2016
    Genetics & Genomics
    DNA Sequencing Enhances Brain Disease Diagnoses
    DNA Sequencing Enhances Brain Disease Diagnoses
    Almost 80,000 people die each year worldwide due to brain inflammation diseases, and it’s hard to know how many of ...
    Written By: Kara Marker
    3
    JUN 02, 2016
    Health & Medicine
    Diagnosing Rare Newborn Diseases with New Genetic Sequencing
    Diagnosing Rare Newborn Diseases with New Genetic Sequencing
    For newborns in neonatal intensive care units with rare and complex diseases that doctors do not come across on a regula ...
    Written By: Kara Marker
    4
    MAY 24, 2016
    Cardiology
    Rare Gene Deletion Prevents Atherosclerosis
    Rare Gene Deletion Prevents Atherosclerosis
    Recent studies analyzing the global burden of atherosclerosis, a buildup of plaque in the blood vessels that leads to co ...
    Written By: Kara Marker
    3
     
     
  • MAY 24, 2016
    Cell & Molecular Biology
    Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
    Loss of Y Chromosome Identified As Risk Factor For Alzheimer's Disease
    Men tend to lose the Y chromosome from blood cells as they age, called LOY, and that loss appears to be compounded by so ...
    Written By: Carmen Leitch
    3
    MAY 04, 2016
    Neuroscience
    Macrophages Repair Microbleeds in the Brain
    Macrophages Repair Microbleeds in the Brain
    Rupture of small blood vessels in the brain can cause hemorrhagic stroke and brain microbleeds, and finding the fastest ...
    Written By: Kara Marker
    4
    MAY 02, 2016
    Health & Medicine
    Human Protein Helps Hepatitis C Spread
    Human Protein Helps Hepatitis C Spread
    For people with a certain gene mutation, metabolizing fat can be much harder for the body to do than it would be for a h ...
    Written By: Kara Marker
    3
    MAY 02, 2016
    Health & Medicine
    Designing A Faster, Better, Stronger Immune Response
    Designing A Faster, Better, Stronger Immune Response
    It is the antibodies that detect pathogens in order to fight infections and prevent disease, but there is an entire team ...
    Written By: Kara Marker
    3
    APR 22, 2016
    Health & Medicine
    Monocyte-Based Cell Therapy to Treat Macrophage Malfunction
    Monocyte-Based Cell Therapy to Treat Macrophage Malfunction
    Macrophages exist in every type of body tissue, in the lungs as alveolar macrophages and in the liver as Kupffer cells. ...
    Written By: Kara Marker
    6
     
     
  • APR 19, 2016
    Genetics & Genomics
    Studying Genetic Resilience to Severe Mendelian Childhood Diseases
    Studying Genetic Resilience to Severe Mendelian Childhood Diseases
    When we think of genetic mutations we usually think of the mutations that cause disease, but protective mutations are an ...
    Written By: Cassidy Reich
    2
    APR 14, 2016
    Clinical & Molecular DX
    Improved Detection Of Deadly Prion Diseases
    Improved Detection Of Deadly Prion Diseases
    Prion diseases are rare and deadly diseases of the brain. Once infected, the prion particles self-propagates and convert ...
    Written By: Xuan Pham
    3
    APR 11, 2016
    Health & Medicine
    Risk Factor for Celiac Disease Found in Junk DNA
    Risk Factor for Celiac Disease Found in Junk DNA
    Celiac disease is an autoimmune disorder that is directly related to a misdirected immune response to gluten, a protein ...
    Written By: Kara Marker
    3 1
    APR 06, 2016
    Immunology
    TSRI Scientists Get First-Ever Glimpse of ‘Teenage' HIV-Neutralizing Antibody
    TSRI Scientists Get First-Ever Glimpse of ‘Teenage' HIV-Neutralizing Antibody
    Scientists at The Scripps Research Institute (TSRI) and collaborating institutions have described the first-ever immatur ...
    Written By: The Scripps Research Institute (TSRI)
    3
    APR 04, 2016
    Clinical & Molecular DX
    On-Demand Drug Production From a Fridge-Sized Machine
    On-Demand Drug Production From a Fridge-Sized Machine
    Moving away from the design of massive pharmaceutical plants, MIT researchers developed a small, transportable machine t ...
    Written By: Xuan Pham
    4
     
     
  • MAR 18, 2016
    Clinical & Molecular DX
    Infrared Sensor for the Detection of Alzheimer from Blood
    Infrared Sensor for the Detection of Alzheimer from Blood
    In the past several months, researchers have been focusing on easier point-of-care tests that offer early detection of d ...
    Written By: Xuan Pham
    3
    FEB 21, 2016
    Clinical & Molecular DX
    How the "Toxo" Parasite Sneaks into the Brain
    How the "Toxo" Parasite Sneaks into the Brain
    A staggering 30-50% of the world’s population is estimated to be infected with the parasite Toxoplasma gondii. Thi ...
    Written By: Xuan Pham
    5
    FEB 11, 2016
    Cardiology
    Treating TTP with Synthetic Antibodies
    Treating TTP with Synthetic Antibodies
    Rare but deadly, thrombotic thrombocytopenic purpura (TTP) is a disease where blood clots block the smallest blood vesse ...
    Written By: Kara Marker
    4
    FEB 07, 2016
    Videos
    10 Bizarre Diseases With No Cure
    10 Bizarre Diseases With No Cure
    The pace of technology, medicine, and science advancement is faster now than ever before. We've innovated vaccines that ...
    Written By: Xuan Pham
    3
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