Precision Medicine Vision

Precision medicine is medical diagnosis, prevention and treatment based on an individual’s variation in genes, environment, and lifestyle. Knowledge of an individual’s personal genome allows us to make informed decisions about the best medical care available, for that person. From fundamental discoveries to the clinic, Columbia... Read more

Neurology

Precision medicine neurology image

Columbia University researchers are deeply committed to understanding the genetic and genomic basis of neurological diseases. Columbia leads major efforts in several neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease and motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy.

Alzheimer’s, for example, is a persistent and devastating dementia disorder of old age, and its incidence will increase two-to three-fold by 2050 if no cure or effective prevention methods are developed. Alzheimer’s eventually leads to a complete loss of memory and loss of ability to function independently.  Of the few approved treatments for Alzheimer’s, most have demonstrated only modest transient effects on clinical symptoms, and none have yet been able to stop disease progression.

Genetic approaches have identified a major genetic risk factor for Alzheimer’s in individuals with a specific copy of the APOE gene, though it has not been determined how it contributes to Alzheimer’s. In addition, several large-scale genome-wide association studies have identified nearly 30 new genes that may also contribute to Alzheimer’s. Only recently have investigators begun to determine which variants explain the association.  Once such variants are identified, functional analyses to understand how mutated genes contribute to the disease can take place.  This will inevitably reveal that while patients with Alzheimer’s present with a familiar set of signs and symptoms, the cause, and ultimately, the treatment will be dependent on the genetic profile.

Programs in a number of neurological diseases are also being developed by the Department of Neurology in collaboration with the Institute of Genomic Medicine. Indications include epilepsy and the neurodegenerative disease ALS, also known as Lou Gehrig’s disease. The latter integrates patient care in the Lou Gehrig ALS clinic, the Institute of Genomic Medicine at CUMC and the Center for Genomics of Neurodegenerative Disease at the New York Genome Center. This program will be a model for precision medicine in which the combination of whole exome and genome DNA sequence information will be used to build a genetic understanding of the disease in conjunction with monitoring disease progression.

Collaboration with the Institute of Genomic Medicine will help the Department of Neurology grow its efforts in neuro-oncology, adult and pediatric neuromuscular disorders, stroke, movement disorders, and epilepsy.

To read more about the Department of Neurology at Columbia University Medical Center, click here.

 

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Ophthalmology is a promising specialty for implementing Precision Medicine because of the eye’s amenability to intervention and the significant human and economic burdens it incurs.