Rare Disease News and Research

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Long-Read Sequencing Brings New Hope for Rare Disease Diagnosis and Treatment

Long-Read Sequencing Brings New Hope for Rare Disease Diagnosis and Treatment

Microglia Response Varies Between Male and Female Mice

Microglia Response Varies Between Male and Female Mice

Long Reads Show Promise for Diagnosing Rare Genetic Disorders

Long Reads Show Promise for Diagnosing Rare Genetic Disorders

Study Reveals Genetics Behind Dilated Cardiomyopathy

Study Reveals Genetics Behind Dilated Cardiomyopathy

New Insights into Nager Syndrome Through Zebrafish Models

New Insights into Nager Syndrome Through Zebrafish Models

New Task Force to Address Challenges in LGMD Research

New Task Force to Address Challenges in LGMD Research

A Novel Genetic Inference Method for Detecting Rare Disease Variants

A Novel Genetic Inference Method for Detecting Rare Disease Variants

Study Confirms Comparable Efficacy of Lamotrigine and Mexiletine in Muscle Channelopathy

Study Confirms Comparable Efficacy of Lamotrigine and Mexiletine in Muscle Channelopathy

New AI Tool Revolutionizes Prediction of Rare Genetic Variant Effects

New AI Tool Revolutionizes Prediction of Rare Genetic Variant Effects

Genetic Variants Linked to Rare Bicuspid Aortic Valve Disease Identified

Genetic Variants Linked to Rare Bicuspid Aortic Valve Disease Identified

Researchers Unveil Revolutionary New Template of the Human Brain

Researchers Unveil Revolutionary New Template of the Human Brain

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

Epigenomic Analysis Reveals Potential Treatment Avenues for ALS

Epigenomic Analysis Reveals Potential Treatment Avenues for ALS

Messenger RNA Therapy Could be Used to Correct Rare Liver Genetic Disease

Messenger RNA Therapy Could be Used to Correct Rare Liver Genetic Disease

Gene Therapy Shows Promise for Muscular Dystrophy Patients

Gene Therapy Shows Promise for Muscular Dystrophy Patients

UCL Scientists Visualize the Molecular 'Nano-Machinery' That Causes Cilia to Beat

UCL Scientists Visualize the Molecular 'Nano-Machinery' That Causes Cilia to Beat

Study Represents a Paradigm Shift in Renal Physiology/Mammalian Salt Handling

Study Represents a Paradigm Shift in Renal Physiology/Mammalian Salt Handling

Previously unknown genetic causes of three rare conditions discovered

Previously unknown genetic causes of three rare conditions discovered

Researchers discover previously unknown genetic causes of three rare conditions

Researchers discover previously unknown genetic causes of three rare conditions

Rare disease involving speech and motor coordination difficulties identified

Rare disease involving speech and motor coordination difficulties identified

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