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Mitochondrial Disease News


Evan’s incredible journey

Sarah McGee fell backwards, collapsing into the red armchair as her mind suffocated under the pressure. Having just returned from yet another brutal doctor’s appointment, her husband, Kelly, was...


Family that lost child to rare disease speaks out on day of recognition

(WNDU) – The last day of February is Rare Disease Day, a day aimed to raise awareness about rare diseases. “There are many millions of Americans that are currently...


My Daughter’s Rare Disease Was A Mystery For Years. Here’s How We Finally Got A Diagnosis.

“’Give her time and she’ll surely catch up,’ they said. ‘She’ll be fine.’ … When Dalia was 9, she lost her ability to walk, talk, eat, and breathe without...


Noah, 11, is the only child in the world with this type of rare disease

When little Noah Barlow came rushing into the world at 29 weeks and weighing just over one kilogram, his parents had no idea of the harrowing journey that lay...


CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease

Published on Jan 25, 2022 in CHOP News Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) have developed a...


CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease

CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease New test analyzes


The Metabolic Genetic Testing Market to witness the mobile health-oriented renaissance

The Metabolic Genetic Testing Market is likely to grow on a robust note in the next decade. The next decade would be seeing the integration of telehealth services with...


Khondrion completes enrolment in KHENERGYZE Phase IIb trial evaluating sonlicromanol in adult patients with MELAS spectrum disorders

January 10, 2022 02:00 ET | Source: Khondrion Khondrion completes enrolment in KHENERGYZE Phase IIb trial evaluating sonlicromanol in adult patients with MELAS spectrum disorders NIJMEGEN, the Netherlands – 10 January 2022: Khondrion, a clinical stage biopharmaceutical company discovering and...


Meet the ‘mitomaniacs’ who say mitochondria matter in autism

Douglas Wallace watched with anticipation as a mouse navigated chambers in a habitat in his lab in Philadelphia, Pennsylvania. For the most part, it was a typical lab mouse:...


Whole-Genome Sequencing Helpful When a Mitochondrial Disorder Is Suspected

NEW YORK (Reuters Health) – Whole-genome sequencing (WGS) can shorten the “diagnostic odyssey” for patients with suspected mitochondrial disorders,...