Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire ... Read more
Updates
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#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD ... Read more -
PISD is a Novel Mitochondrial Disease Gene, Case Report Shows
Mutations in the PISD gene can cause mitochondrial disease, a new study shows. The report, “PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts and ... Read more -
$4M Grant Will Help Advance Research into NVP015 Treatment for Genetic Mitochondrial Disease
The U.S. Department of Defense (DoD) has awarded a $4 million, three-year grant to the Children’s Hospital of Philadelphia (CHOP) to advance NeuroVive Pharmaceutical ... Read more
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Investigational Therapy Jotrol Shows Potential to Treat Mitochondrial Disorders, Mouse Study Suggests
Jotrol, Jupiter Orphan Therapeutics’ lead therapeutic candidate, was found to markedly improve mitochondria production ... -
Short-Term Treatment With KH176 Lessens Depression, Improves Mood in Mitochondria Patients, Study Shows
Short-term treatment with oral KH176 was safe and well-tolerated by mitochondria disease patients, and ... -
Patients Groups Funding Research Project Focused on Developing New Nucleoside Therapy
The Mito Foundation and The Lily Foundation are joining efforts to support the development of ... -
Women with Mitochondrial Disease More Prone to Pregnancy Complications, Study Shows
Women with mitochondrial disease or mitochondrial dysfunction are more susceptible to complications during pregnancy, and ... -
SLC25A4 Gene Mutation Linked to Mild Mitochondrial Myopathy in Children, Case Study Shows
A new mutation identified in the SLC25A4 gene has been linked to childhood-onset mild ... -
HotSpot Therapeutics Secures $45M to Advance Drug Discovery Platform
HotSpot Therapeutics has secured $45 million to advance its drug discovery strategy that identifies so-called ...
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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