Dr. Nestor R. Gonzalez came to the United States from his conflict-torn homeland to build a career and advance the frontiers of medical knowledge. With an unusual combination of expertise in both neurosurgery and interventional neuroradiology, he now is recognized as one of the most innovative clinicians and researchers in the country.
A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ways in individuals with psychiatric disorders such as schizophrenia.
Specially designed comprehensive behavioral therapy is more effective than sessions offering patient support and education in helping adults with Tourette syndrome manage their tics – sudden, repetitive motions or vocalizations – according to a new study.
Using scores obtained from cognitive tests, Johns Hopkins researchers think they have developed a model that could help determine whether memory loss in older adults is benign or a stop on the way to Alzheimer’s disease.
MGH researchers and their colleagues have used digital versions of a standard molecular biology tool to detect a common tumor-associated mutation in the cerebrospinal fluid of patients with brain tumors.
An assay designed to measure normal and abnormal forms of the huntingtin protein – the mutated form of which causes Huntington's disease – was successful in detecting levels of the mutant protein in a large multicenter study of individuals at risk for the devastating neurological disorder.
MGH researchers have discovered a type of mutation known as copy-number variants – deletions, duplications, or rearrangements of human genomic DNA – in affected members of 10 families with early-onset Alzheimer's. These are the first new early-onset familial Alzheimer’s disease gene mutations to be reported since 1995.
A search for genes that change their levels of expression in response to starvation has uncovered potential clues to the mechanism behind the health benefits of omega fatty acids. MGH researchers report that omega-6 fatty acids may activate a cellular renewal process called autophagy, which may be deficient in several important diseases of aging.