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Inside Precision Medicine International Data Sharing Project Aims to Improve Rare Disease Diagnostics

Mitochondrial genetics

Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect Genome-Phenome Analysis Platform. The platform is located at the Centro Nacional de Análisis Genómico - Centre for Genomic Regulation facilities in the Parc Cientific de Barcelona
Molecular Dx

International Data Sharing Project Aims to Improve Rare Disease Diagnostics

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Image of several pink mitochondria on a black background to illustrate how fumarate, a chemical byproduct of mitochondrial metabolism, is known to trigger inflammation in the absence of the enzyme fumarate hydratase
News & Features

Mitochondrial Genetic Variants Inherited from Mother Can Influence Offspring’s Risk of Common Diseases

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Image of several pink mitochondria on a black background to illustrate how fumarate, a chemical byproduct of mitochondrial metabolism, is known to trigger inflammation in the absence of the enzyme fumarate hydratase
Molecular Dx

Rare Genetic Mitochondrial Disease Discovered via Whole-Exome Sequencing

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Sickle cell anemia
News & Features

Mitochondrial DNA Triggers Inflammation in Sickle Cell Anemia Patients

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Neurons sending pulsating electric impulses and communicating with each other. Concept For Neurological Diseases, Tumors And Brain Surgery
Molecular Dx

RNA-seq Reveals Mitochondrial RNA Release, Innate Immune Activation Tied to Huntington’s Disease

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Helix Partners with AdventHealth on Screening for FH-Linked Genes
Molecular Dx

Helix Partners with AdventHealth on Screening for FH-Linked Genes

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Genome Editing Tool Could be Key to Mitochondrial Disease Treatment
News & Features

Genome Editing Tool Could be Key to Mitochondrial Disease Treatment

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PerkinElmer has agreed to acquire RHS
Molecular Dx

PerkinElmer to Acquire Single-Cell Genomics Tech Developer RHS

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Mitochondria - microbiology
Molecular Dx

More Evidence of Autism’s Link to Mitochondrial DNA Mutations

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