Recent advancements in the field of genetics have given a vital boost to brain research as well. In fact, just after the first draft sequence of the human genome, the field of neurogenetics rocketed, say leaders in the field from Baylor College of Medicine and Emory University School of Medicine.
“Today, a large number of childhood and adult neurological disorders can be diagnosed by a simple DNA test on peripheral blood,” write the authors in an overview published in the journal Neuron. Furthermore, families are now provided with the chances of having another child with the same disorder.
Research investments have already been returned, not only in diagnosis and knowledge of these disorders but also in hope for families affected by the diseases, say the authors.
The field, however, was already primed for take-off, says Dr. Huda Y. Zoghbi, professor of molecular and human genetics, pediatrics, neuroscience and neurology at BCM and Dr. Stephen T. Warren, professor of human genetics, pediatrics and biochemistry at Emory.
New research was able to build on work from the 1990s, which included the finding of critical genes, including Duchenne muscular dystrophy, Charcot-Marie Tooth and fragile X, the researchers added.
“[C]loning the gene for Rett syndrome (performed in Zoghbi’s laboratory) would not have been possible in 1999 had it not been for the intense mapping and sequencing efforts of the X chromosome” that preceded it, said the authors.
“While arguably the pace of development of potential therapies has been relatively slow compared to the speed of disease gene discovery, we should not underestimate the great benefits to families of disease prevention through prenatal diagnosis, and the gains in fundamental neurobiology from pathogenesis studies of neurological disorders.”
Although much emphasis has focused on the human genome, advancements in developing model systems have progressed as well, blazing a path for future treatments based on a new knowledge of neurobiology.
Since human testing relies on such research, the authors note that a solid infrastructure needs to be built on partnerships between academic research, private institutions, government, foundations and the pharmaceutical industry.
They believe that the future of neurogenetics will be enhanced by the following principles: First, there will be a need to invest in studies that result in better understanding of normal brain development, as this will help treat disorders afflicting children as well as the adult and aging brain.
Next, epigenetics (and how it governs disease development) must be carefully researched with an increased awareness in how its effects subdue disease. Finally, it should be recognized that the plasticity and resiliency of the human brain will help map the future for treatment.
“The findings that several disorders, including some of the more devastating developmental and degenerative diseases are reversible in mouse models, provides hope that discovering ways to counteract or suppress diseases might halt or even reverse some of the most serious neurological and psychiatric disorders,” say the authors.
Source: Baylor College of Medicine