Updates

April 12, 2019April 12, 2019
Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests

Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected ... Read more
April 5, 2019April 5, 2019
MDA Conference Bringing Neuromuscular Disease Experts to Orlando to Share ‘New Era’ in Treatment, Research

For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event ... Read more
March 29, 2019March 29, 2019
New Phase 1 Trial of Potential Treatment for Mitochondrial Diseases, KL1333, Enrolling in UK

A second early clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases, has enrolled its first participant, NeuroVive announced. The Phase 1a/b trial (NCT03888716) ... Read more
March 22, 2019March 22, 2019
University of Arkansas Team Awarded NIH Grant to Find Better Diagnostic Tools for Mitochondrial Diseases

An interdisciplinary University of Arkansas research team has been awarded a grant by the National Institutes of Health to find better and faster diagnostic ... Read more
March 15, 2019March 14, 2019
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as ... Read more

News

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 13, 2019March 13, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
News

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 7, 2019March 7, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
March 1, 2019March 1, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Vienna to Host RARE2019 Meeting on Rare Diseases
February 22, 2019February 22, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
News

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 15, 2019February 15, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...
News

Topline Results Announced for Phase 3 Trial Testing GS010 in LHON Patients
February 8, 2019February 8, 2019
GenSight Biologics annnounced the topline results of a Phase 3 clinical trial for GS010, ...

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FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
February 1, 2019
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug ...
Certain MELAS Patients Have Higher Fear of Disease Progression, Study Shows
February 1, 2019February 1, 2019
More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of ...
Healthcare Utilization of Mitochondrial Disease Patients Much More Costly Than General Population
January 25, 2019January 25, 2019
Genetic Mutations Affecting Protein Production Identified in Mitochondrial Disease
January 18, 2019January 18, 2019
Mitochondrial Surveillance Mechanism Is Critical for Genomic Stability, Study Shows
January 11, 2019January 11, 2019
AOX Enzyme May Alleviate Symptoms of Mitochondrial Disease, Mouse Study Shows
January 4, 2019January 4, 2019

Entrada Raises $59M to Advance Program to Treat Rare, Deadly Mitochondrial Disease
December 21, 2018December 21, 2018
Entrada Therapeutics has raised $59 million in Series A financing to advance its intracellular enzyme ...
Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 21, 2018December 21, 2018
GS010 Improves Visual Acuity, Quality of Life in LHON Patients, Phase 3 Trial Shows
December 14, 2018December 14, 2018
NeuroVive Secures Funding to Advance NV354 for Potential Mitochondrial Disease Treatment
December 7, 2018December 7, 2018

Mitochondrial DNA from Fathers Could Lead to New Therapies, Study Suggests
November 30, 2018November 30, 2018
A new study found rare cases of mitochondrial DNA (mtDNA) being passed down from ...
Correcting Precise RNA Alterations May Restore Protein Production in MERRF, Study Suggests
November 16, 2018November 16, 2018
Mount Sinai’s Icahn School of Medicine Cited for Commitment to Mitochondrial Care
November 9, 2018November 9, 2018

News

Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests
April 12, 2019April 12, 2019
Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients ...
News

MDA Conference Bringing Neuromuscular Disease Experts to Orlando to Share ‘New Era’ in Treatment, Research
April 5, 2019April 5, 2019
For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon ...
News

New Phase 1 Trial of Potential Treatment for Mitochondrial Diseases, KL1333, Enrolling in UK
March 29, 2019March 29, 2019
A second early clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases, has enrolled ...
News

University of Arkansas Team Awarded NIH Grant to Find Better Diagnostic Tools for Mitochondrial Diseases
March 22, 2019March 22, 2019
An interdisciplinary University of Arkansas research team has been awarded a grant by the ...
News

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
March 15, 2019March 14, 2019
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ...
News

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 13, 2019March 13, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
News

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 7, 2019March 7, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
March 1, 2019March 1, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Vienna to Host RARE2019 Meeting on Rare Diseases
February 22, 2019February 22, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
News

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 15, 2019February 15, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...
News

Topline Results Announced for Phase 3 Trial Testing GS010 in LHON Patients
February 8, 2019February 8, 2019
GenSight Biologics annnounced the topline results of a Phase 3 clinical trial for GS010, ...
News

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
February 1, 2019
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug ...

August 9, 2017August 9, 2017

Researchers Develop Method That May Help Diagnose Mitochondrial Diseases

News

Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was ... Read more

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