Author Archives: Maureen Newman

Bioinformatics Unlocks Mechanisms of Disease Progression

Bioinformatics, a field that enables powerful analysis of large amounts of data, is being applied to Huntington’s disease to find potential candidate molecules that play a role in pathogenesis. Researchers have conducted high throughput screens of genetic information, and this information is now being deciphered by different computer programs to…

Highly Sensitive Assay for mHTT Predicts Huntington’s Disease

Tapping into the cerebrospinal fluid (CSF) of patients with Huntington’s disease may give insights on disease onset, diminished functional ability and potential therapeutic agents for treatment. A recent study investigated whether huntingtin (HTT) protein could be detected in CSF, and the research team behind the investigation created an assay with…

Huntington Disease-Afflicted Families May Share Common Ancestors

Could patients with Huntington’s disease (HD) who are of European ancestry be related by a distant individual? Perhaps, according to a study from the Center for Human Genetic Research at Massachusetts General Hospital in Boston. Researchers led by Dr. Jong-Min Lee and Dr. James F. Gusella conducted an investigation into…

Stem Cell Transplant Studied in MNGIE

A currently-recruiting Phase 1 clinical trial will identify if stem cell transplants are a safe treatment option for the rare disease mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The study aims to recruit 12 patients with MNGIE and treat them with allogeneic hematopoetic stem cells collected from the bone marrow or blood…

Whole Exome Sequencing Useful to Diagnose Leigh Syndrome

Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is associated with over 30 gene mutations, making it difficult to use single-gene identification as a cost-effective means of pinpointing Leigh…

Study Investigates Simple Diagnosis for Cytochrome c Oxidase Deficiency

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…