Leigh Syndrome News and Research

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Hope for PDCD and Cure Mito Foundation unveil joint patient registry

Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry.

18 Mar 2024

CoRDS and Cure MITO join forces with C-Path to advance research for rare mitochondrial disorders

Critical Path Institute announced today that the Coordination of Rare Diseases based at Sanford Research (CoRDS), in partnership with Cure MITO, will contribute its mitochondrial disorders data from its international patient registry to the C-Path-managed Rare Disease Cures Accelerator-Data and Analytics Platform .

13 Jul 2023

Cure Mito Foundation releases the first-of-its-kind online resource about Leigh syndrome

The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease.

5 Jun 2023

Research reveals molecular features of rare mtDNA mutations

A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation.

13 Apr 2023

Two new zebrafish models for studying the most common cause of Leigh syndrome developed

Researchers from Children's Hospital of Philadelphia (CHOP) developed two new zebrafish models for studying a specific genetic form of mitochondrial disease that represents the most common cause of Leigh syndrome.

21 Feb 2023

Parents become drug developers to save their children’s lives

Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.

21 Jul 2022

Study finds microglia to be responsible for neuronal death in a mitochondrial disease animal model

Microglia, a type of central nervous system cell, is primarily responsible for neuronal death in Leigh Syndrome and the neurological symptoms related to this mitochondrial disease.

8 Jul 2022

Developmental delays related to Leigh syndrome may occur earlier than previously known

Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia have found that developmental delays associated with Leigh syndrome, the most common pediatric mitochondrial disorder, may occur earlier than previously recognized – even before metabolic stroke and regression – which could provide clinicians with an opportunity for earlier diagnosis and therapeutic interventions.

1 Mar 2022

Researchers identify mechanism that may lead to new therapies for strokes, brain injuries

In a surprising discovery, researchers at Massachusetts General Hospital (MGH) identified a mechanism that protects the brain from the effects of hypoxia, a potentially lethal deprivation of oxygen.

26 May 2021

Researchers develop first human model for studying the neuronal pathology of Leigh syndrome

Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities.

26 Mar 2021

Combination of therapies may benefit patients with mitochondrial respiratory chain disorders

Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have demonstrated how one combination of therapies may be beneficial for patients with mitochondrial respiratory chain disorders.

3 Mar 2021

Study paves the way to a potential new treatment for rare terminal childhood illness

Scientists at the University of Exeter have identified a way to "rescue" cells that have genetically mutated, paving the way to a possible new treatment for rare terminal childhood illness such as mitochondrial disease.

18 Dec 2020

Researchers identify two groups of neurons related to Leigh Syndrome

Leigh Syndrome affects one in every 40,000 newborns and is produced by deficits in the mitochondria, which are in charge of providing the energy needed for cells to function correctly.

18 Sep 2019

Gene behind mitochondrial disease has more varied effects than previously thought

For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms.

12 Mar 2019

Study: Mice lacking PARL protein display specific problems in the nervous system reminiscent of Leigh syndrome

Leuven researchers led by professor Bart De Strooper (VIB-KU Leuven) have identified a new role for PARL, a protein that has been linked to Parkinson's disease.

3 Jan 2019

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy.

15 Nov 2018

Researchers highlight the need to reconsider mitochondrial replacement moratorium

Mothers with mitochondrial DNA mutations often give birth to children who face incurable and fatal illnesses. But a much-studied form of mitochondrial replacement could prevent the transmission of such diseases from mothers to children, researchers say.

28 Mar 2018