Updates

May 29, 2020May 29, 2020
COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays ... Read more
May 25, 2020May 25, 2020
Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 ... Read more
May 19, 2020May 19, 2020
Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together ... Read more
May 15, 2020May 15, 2020
Vitamin B3 Boosts Muscle Health in Mitochondrial Myopathy, Study Suggests

Niacin, vitamin B3, can help to normalize muscle metabolism in people with mitochondrial myopathy, a study based on a small pilot trial in patients ... Read more
May 12, 2020May 12, 2020
Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare ... Read more

Subscribe to our mailing list

Get regular updates delivered to your email box.

Thanks! Please check your email for a confirmation email.

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

Updates

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Vitamin B3 Boosts Muscle Health in Mitochondrial Myopathy, Study Suggests

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

Gene Therapy Trial for Mitochondrial Disease of Retina Found Safe, Can Continue

Genetic Testing for Mitochondrial Disease

Genetic Counseling for Mitochondrial Disease

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Subscribe to our mailing list

How Might Mitochondrial Disease Affect My Lifespan?

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Bezafibrate Does Not Induce Mitochondria Formation, Small Study Reports

What Are My Reproductive Options if I Have Mitochondrial Disease?

GenSight Readying to Ask EMA to Approve Gene Therapy for LHON

FAQs About Mitochondrial Disease

Mitochondria Transplant Could Someday Be Viable Treatment Option, Study Shows

NORD’s Advice on COVID-19: You’re Stronger Than You Think