David Goldstein, PhD, Director of the Institute for Genomic Medicine
The Institute for Genomic Medicine was established in January of 2015 under the direction of Dr. David B. Goldstein as a part of Columbia University's Precision Medicine Initiative. The overarching goal of the institute is to create a cohesive, Columbia-wide research and teaching environment for human genetics and genomics. Recent technological advances in genome sequencing and adoption of electronic medical records have paved the way for the creation of patient-centered personalized medicine that will be one of the cornerstones of the medical field.
Columbia, the IGM, and IGM partners will help drive innovation in genomic medicine through vibrant research, clinical applications and outreach efforts. In support of these efforts, the institute is in the process of establishing a genetics environment that offers the benefits of scale and expertise to facilitate the integration of genomic analysis across the Columbia community.
Precision Medicine Helps Diagnose Child
A toddler was diagnosed by exome sequencing and successfully treated for a rare illness, demonstrating precision medicine's promise.
Quinidine in the treatment of KCNT1 positive epilepsies. Mikati et al. 2015. Annals of Neurology
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. Williams et al. 2015. Clinical Genetics
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. Dhinsda et al. 2015. Neurology Genetics
Clinical application of whole-genome sequencing in patients with primary immunodeficiency. Mousallem et al. 2015. Journal of Allergy and Clinical Immunology
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Cirulli et al. 2015. Science
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Zhu et al. 2015. Genetics in Medicine
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 2014. American Journal of Human Genetics
The Might Family
Read more about the Might Family in The New Yorker.