Rare Disease News and Research

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Cellares to Expand Automated Manufacturing to Gene-Edited Stem Cell Therapies

Cellares to Expand Automated Manufacturing to Gene-Edited Stem Cell Therapies

Study Challenges Long-Held Assumptions About Mendelian Retinal Disorders

Study Challenges Long-Held Assumptions About Mendelian Retinal Disorders

Wasatch Biolabs Announces Co-Marketing Agreement with Agilent to Advance Native-Read Targeted Sequencing

Wasatch Biolabs Announces Co-Marketing Agreement with Agilent to Advance Native-Read Targeted Sequencing

Researchers Find "Hidden" Mutations by Tracing Protein Isoforms

Researchers Find "Hidden" Mutations by Tracing Protein Isoforms

Discovery of Glucocorticoid Receptor Multimerization Opens Path to Safer Therapies

Discovery of Glucocorticoid Receptor Multimerization Opens Path to Safer Therapies

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

Wasatch Biolabs Expands Service Portfolio with Oxford Nanopore Assays in Pharmacogenomics, Telomere Sequencing, and mRNA Vaccine Quality Control

Wasatch Biolabs Expands Service Portfolio with Oxford Nanopore Assays in Pharmacogenomics, Telomere Sequencing, and mRNA Vaccine Quality Control

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

Prime Editing Reverses Symptoms of Severe Childhood Neurological Disease

Prime Editing Reverses Symptoms of Severe Childhood Neurological Disease

Every Newborn Sequenced Within a Decade: What Does This Mean for Healthcare?

Every Newborn Sequenced Within a Decade: What Does This Mean for Healthcare?

Gene Editing Reverses Symptoms of Rare Brain Disorder in Mice

Gene Editing Reverses Symptoms of Rare Brain Disorder in Mice

New Discovery Explains Increased Infection Risk in Patients with Mitochondrial Diseases

New Discovery Explains Increased Infection Risk in Patients with Mitochondrial Diseases

Genomics can Transform Care for Children with Rare Diseases

Genomics can Transform Care for Children with Rare Diseases

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

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