Assistant Professor of Neurology
Phone: (412) 648-3299
Specialized Areas of Interest
General neurology; headache.
Kathy Gardner, MD, sees general Neurology and headache patients at the University Drive Veteran’s Hospital two days a week and covers the Neurology ward service at the VA every 5 weeks. She sees neurofibromatosis (NF) and tuberous sclerosis patients at Children’s Hospital two days a month. She sees neurogenetic cases monthly at the UPMC Neurology clinic and covers the Neurology ward service two weeks/year.
Dr. Gardner's research is focused on the genetics of both common and rare hemiplegic forms of migraine. She has an ongoing cohort of migraine families and hemiplegic migraineurs for linkage and mutation analysis. She has established collaborations to help with the collection at headache centers at Cleveland Clinic, Thomas Jefferson University, and University of Oklahoma Health Sciences Center. She is the PI for this multi-center study funded by the American Headache Society/ Pfizer and is responsible for oversight and protocol renewals at Children’s Hospital and the VA. The hemiplegic migraineurs are referred through NIH-sponsored Genetests website, where she is the author of the monologue on Familial Hemiplegic Migraine (FHM). She has completed SSCP mutational analysis screening on 96 hemiplegic migraineurs for 23 exons of the ATP1A2 gene and one fourth of the 47 exons for the CACNA1A hemiplegic migraine genes, identifying a number of conformers to be sequenced. Additionally she has ascertained, expanded and refined linkage on Chr1q loci in a large 75-member FHM family and identified one of the two responsible gene mutations (ATP1A2) for the disorder in that family. She ran the two-point and multi-point linkage and is collaborating on the result of bi-locus analysis with statistician Jeff O’Connell. She expanded and ran linkage on a 14-member family with Chr19 FHM and ataxia and is in the process of screening CACNA1A exons for the mutation. Dr. Gardner also has a study ongoing at the Children’s Hospital NF clinic to characterize headache types and frequency in subjects of all ages with NF-1. She has personally completed 75 of the needed 200 interviews thus far.
Dr. Gardner works as a consultant with collaborators Dr. Miguel Estevez and Dr. Annette Estevez who are characterizing the signaling pathways for the nematode calcium channel, which is orthologous to the Chr19p voltage gated calcium channel associated with hemiplegic migraine in humans. By working in another genome they have identified over twenty suppressors and enhancers of the mutant nematode calcium channel phenotype called unc-2. They have identified a TGF-β / calcium channel regulated pathway for control of serotonin synthesis via expression of the rate limiting enzyme tryptophan hydroxylase, thus confirming a feedback loop and relationship of the hemiplegic migraine calcium channel and serotonin. Serotonin is the pharmacologically important neurotransmitter in migraine.
Dr. Gardner's publications can be reviewed through the National Library of Medicine's publication database.
Professional Organization Membership
American Academy of Neurology
International Headache Society
American Headache Society
American Society of Human Genetics
Society of Neuroscience
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