A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

A recent review highlights the latest findings in mitochondrial disease and the importance of distinguishing between primary mitochondrial disease (PMD) and secondary mitochondrial disease (SMD) in the diagnosis of patients, as treatments and outcome may be very different for these two cases. The study, “Primary Mitochondrial Disease and Secondary Mitochondrial…

A study confirming genetic diagnoses of mitochondrial disease suggests that a new method is a reliable tool for identifying genetic mutations that cause mitochondrial disease in children and infants and for increasing early treatment. The method uses whole exome sequencing – a screening of all genome coding parts (a person’s unique set of genetic instructions.)…

Canon BioMedical recently announced the addition of 72 new assays to the Novallele genotyping library, designed to allow researchers to more quickly identify single nucleotide polymorphisms (SNPs, the most common type of genetic variation among people) and other genetic modifications, like small insertions and deletions, in the human genome. The release includes two assays to detect…

A new study recently published in the Chinese Medical Journal reviewed the diagnostic resources currently available for a mitochondrial disease called mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). The study is entitled “Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like…

Involuntary muscle twitches, generalized epilepsy, and cerebellar ataxia — these symptoms are typically indicative of a mitochondrial myopathy. Yet with the different types of mitochondrial myopathies, it may be difficult to determine the precise diagnosis for patients affected with these varied symptoms. A group from Universidade Federal do Paraná in Brazil…

Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard way of diagnosing CIV deficiency is taking a muscle biopsy and conducting a biochemical analysis on the tissue. Small children experience…

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 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

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 online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…