Mitochondrial Disease News and Research

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Viewpoints: Finding a plan for 'tinkering with DNA'; fact-checking claims of ACA losses; pediatricians' fears of retail clinics

The manipulation of human genes could lead to profound advances in our ability to cure or prevent terrible diseases. But in some cases, it might also mean introducing genetic material that could be passed from one generation to the next, changing the human gene pool in a manner that could inadvertently harm peoples' health.

26 Feb 2014

Edison's vatiquinone receives Orphan Status for treatment of Friedreich's ataxia

Edison Pharmaceuticals today announced that the US Food and Drug Administration has granted Orphan Status to vatiquinone for the treatment of Friedreich's ataxia.

4 Feb 2014

Imaginative play with medically themed toys may improve recovery in chronically ill children

New research finds that chronically ill children celebrate a successful recovery. It's through their imaginative play with medically themed toys. Laura Nabors, an associate professor of human services in the University of Cincinnati College of Education, Criminal Justice, and Human Services (CECH), will present new research on Tuesday, Nov. 5, at the American Public Health Association's (APHA) 141st Annual Meeting and Expo in Boston.

6 Nov 2013

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

30 Aug 2013

Study opens door to possible treatments for variety of mitochondrial diseases

By borrowing a tool from bacteria that infect plants, scientists have developed a new approach to eliminate mutated DNA inside mitochondria-the energy factories within cells. Doctors might someday use the approach to treat a variety of mitochondrial diseases, including the degenerative eye disease Leber hereditary optic neuropathy. The research, published online today in Nature Medicine, was funded by the National Eye Institute, a part of the National Institutes of Health.

5 Aug 2013

Study may lead to personalized treatments for mitochondrial energy disorders

Researchers have identified a master network of signaling molecules that acts like a "fuse box" to regulate the cellular effects of defective energy flow in mitochondrial respiratory chain diseases—a diverse set of difficult-to-treat genetic-based energy disorders.

25 Jul 2013

Data emphasise need for comprehensive analysis of mtDNA in mitochondrial disease patients

French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting itself as a respiratory deficiency.

10 Jun 2013

Scientists discover new agent that removes potentially dangerous cells

Pluripotent stem cells can turn, or differentiate, into any cell type in the body, such as nerve, muscle or bone, but inevitably some of these stem cells fail to differentiate and end up mixed in with their newly differentiated daughter cells.

23 Apr 2013

Orphan, St George's sign licensing agreement to develop new therapies for metabolic disorders

St George's, University of London has signed an exclusive worldwide licensing agreement with rare-disease research-and-development firm Orphan Technologies Ltd to develop new therapies for deadly metabolic disorders.

5 Feb 2013

Researchers create CoQ9-deficient mutant mouse model with mitochondrial encephalomyopathy

At three to six months of life, this genetic alteration in mice -similar to that occurred in human- causes a rapid degeneration in the lower limbs to death for cardiac arrest.

30 Jan 2013

One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source of DNA—within the genes inside mitochondria, cellular power plants that, when abnormal, contribute to complex, multisystem diseases.

29 Jan 2013

Edison Pharmaceuticals to commence EPI-743 phase 2B Friedreich's ataxia study

Edison Pharmaceuticals today announced the initiation of a phase 2B study entitled, "Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich's Ataxia."

7 Jan 2013

New technique may prevent inheritance of mitochondrial diseases in children

A joint team of scientists from The New York Stem Cell Foundation (NYSCF) Laboratory and Columbia University Medical Center (CUMC) has developed a technique that may prevent the inheritance of mitochondrial diseases in children.

21 Dec 2012

New hope for mitochondrial disease sufferers

Scientists have succeeded in replacing mitochondrial DNA in human oocytes, which they hope will lead to the procedure being developed for use in patients with mitochondrial diseases.

29 Oct 2012

Positive results from Edison’s EPI-743 phase 2A study on Leigh Syndrome

Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)."

13 Sep 2012

Edison receives EMA COMP orphan designation for EPI-743 to treat Leigh syndrome

Edison Pharmaceuticals announced today that the Committee for Orphan Medicinal Products (COMP), European Medicines Agency, has granted orphan designation to EPI-743 for the treatment of Leigh syndrome.

12 Sep 2012

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

The MitoTarget Project was a project funded by the European Commission, under their FP7 programme. It was funding for a call published in 2007.

21 Aug 2012

Advanced understanding of neurodegenerative diseases achieved by Trophos

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for indications with under-served needs in neurology and cardiology, announces today the conclusion of the pan-European MitoTarget Project, the EU funded orphan disease project, with submission of the final report to the EC.

31 Jul 2012

Courtagen launches nucSEEKPDx assay

Courtagen Life Sciences, Inc., a privately held life sciences company that provides innovative proteomic and genomic products and services to the life sciences industry, today announced the expansion of their genetic test menu. The new genetic test, nucSEEKPDx, will sequence approximately 1,100 nuclear genes constituting the mitochondrial exome, which encodes the vast majority of proteins found in the mitochondrion. This test is by far the most comprehensive test on the market for the management of mitochondrial disorders.

11 Jul 2012

Novel technological treatment for Leber Hereditary Optic Neuropathy

A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40.

24 Apr 2012