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Rare and Neglected Diseases

IL-33 Gene Triggers Newly Identified Allergic and Autoimmune Disease
Autoimmune Disorders

IL-33 Gene Triggers Newly Identified Allergic and Autoimmune Disease

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The Human Genome: Finished with High Fidelity
Exome Sequencing

The Human Genome: Finished with High Fidelity

Helen Albert -
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TALED Gene Editing Could Help Target Mitochondrial Diseases
Gene Editing

TALED Gene Editing Could Help Target Mitochondrial Diseases

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Study Highlights Barriers to Rare Disease Diagnosis
News & Features

Study Highlights Barriers to Rare Disease Diagnosis

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Neurodevelopmental Disorder Linked to Tumor Suppressor Gene Discovered
Genetic Disease Testing

Neurodevelopmental Disorder Linked to Tumor Suppressor Gene Discovered

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Novartis’ Kinase Inhibitor Gets Rare Tissue Overgrowth Disease Nod From FDA
Breast Cancer

Novartis’ Kinase Inhibitor Gets Rare Tissue Overgrowth Disease Nod From FDA

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New Fragile X-Associated Syndrome Findings May Point to Treatments
Neurological Disorders

New Fragile X-Associated Syndrome Findings May Point to Treatments

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David Dimmock Named Chief Medical Officer of Creyon Bio
News & Features

David Dimmock Named Chief Medical Officer of Creyon Bio

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Rare Disease Investment Increasing Despite Poor Markets and Continuing Pandemic
Financing

Rare Disease Investment Increasing Despite Poor Markets and Continuing Pandemic

Helen Albert -
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SickKids Toronto, PacBio To Study Use of Long-Read Sequencing for Undiagnosed Rare Diseases
Molecular Dx

SickKids Toronto, PacBio To Study Use of Long-Read Sequencing for Undiagnosed Rare Diseases

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People At High Genetic Risk for Dementia Also Benefit from Lifestyle Changes

People At High Genetic Risk for Dementia Also Benefit from Lifestyle Changes

FDA Grants Seribantumab Fast Track Designation for Tumors with NRG1 Gene Fusions

FDA Grants Seribantumab Fast Track Designation for Tumors with NRG1 Gene Fusions

Link Found Between Vascular Disease and Alzheimer’s Disease

Link Found Between Vascular Disease and Alzheimer’s Disease

New Clinical Trial Recruitment Tools Promises to Bolster Community-Based Research Opportunities

New Clinical Trial Recruitment Tools Promises to Bolster Community-Based Research Opportunities

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