Washington: A team of doctors and scientists used an innovative stem cell technique to create neurons in a lab dish from skin scrapings of patients who have Lou Gehrig's disease.
The researchers inserted molecules made of small stretches of genetic material, blocking the damaging effects of a defective gene and, in the process, providing "proof of concept" for a new therapeutic strategy - an important step in moving research findings into clinical trials.
The study is believed to be one of the first in which a specific form of Lou Gehrig's disease, or amyotrophic lateral sclerosis, was replicated in a dish, analyzed and "treated," suggesting a potential future therapy all in a single study.
Robert H. Baloh , MD, PhD, director of Cedars-Sinai's Neuromuscular Division in the Department of Neurology and director of the multidisciplinary ALS Program, said that in a sense, this represents the full spectrum of what we are trying to accomplish with patient-based stem cell modeling.
He said that it gives researchers the opportunity to conduct extensive studies of a disease's genetic and molecular makeup and develop potential treatments in the laboratory before translating them into patient trials.
Laboratory models of diseases have been made possible by a recently invented process using induced pluripotent stem cells - cells derived from a patient's own skin samples and "sent back in time" through genetic manipulation to an embryonic state. From there, they can be made into any cell of the human body.
The researchers found that the genetic defect of C9ORF72 may cause disease because it changes the structure of RNA coming from the gene, creating an abnormal buildup of a repeated set of nucleotides, the basic components of RNA.
The study has been published in Science Translational Medicine.