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Kinga                          Szigeti

Kinga Szigeti MD, PhD

Department of Neurology

Assistant Professor
Director of the Alzheimer‘s Disease and Memory Disorders Center

Specialty/Research Focus

Alzheimer Disease / Memory Disorders; Neurology

 
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Professional Summary:

I am a board-certified neurologist with specialty training in genetics and cognitive disorders, and I direct the Alzheimer’s Disease and Memory Disorders Center and Translational Genomics Research Laboratory, state-of-the-art facilities specializing in cognitive disorders.

Our clinical mission is to provide compassionate, state-of-the-art care for patients and families affected by Alzheimer disease (AD) and other cognitive disorders. Our multidisciplinary approach includes a team of neurologists, neuropsychologists, neuroimagers, social workers and nurses dedicated to the needs of our patients and their caregivers.

Our research mission is to employ genetic tools to identify novel risk factors and potential pathways that can be targeted with medications to prevent or modify the course of AD. Our focus is translating discoveries made in the laboratory into improved methods of disease prevention, diagnosis, and treatment.

AD is a progressive neurodegenerative disease with high prevalence imposing a substantial public health problem. The heritability of AD is estimated at 60-80 %, forecasting a potential for using genetic biomarkers for risk stratification in the future. The main risk factor of late-onset AD is the APOE4 allele with a population attributable fraction of 0.2-0.3. Several large scale genome-wide association studies (GWAS) using high frequency variants identified nine additional loci with a combined population attributable fraction of 0.31. My laboratory focuses on finding the missing heritability using copy number variation as a genetic marker map. We perform CNV GWAS analysis on case-control datasets and quantitative endophenotypes, such as age at onset and biomarker data.

We identified an olfactory receptor CNV association with age at onset of AD. Loss of smell sensation has been associated with AD and other neurodegenerative disorders; we are now applying a novel method, aCGH to study the olfactory subgenome in relation to smell sensation and cognition in normal aging individuals, patients affected by amnestic mild cognitive impairment and mild AD. This multicenter study is ongoing and is funded by the National Institute of Aging.

In order to increase the power of association studies, we developed a method to use CNV as a genetic marker map and whole genome gene expression as quantitative trait loci within the same individual using post-mortem human temporal lobe tissue. In a pilot study, we identified a replicable 8 kb deletion association with AD upstream of CREB1. This small deletion harbors a PAX6 transcription factor binding site. We are pursuing iPSC technology to study the effect of this deletion on human neurons. We are also applying the same methodology on a larger set to identify additional signals.

Our laboratory also collaborates with the Mendelian Project of Baylor College of Medicine in Houston, Texas. We are studying neurodegenerative dementias with Mendelian inheritance pattern by whole exome sequencing of informative pedigrees. My laboratory performs the data analysis and the follow-up studies for these mutations.

Education and Training:
  • PhD, Clinical Neuroscience, University of Szeged, Hungary, summa cum laude (2006)
  • MD, Medicine, University of Pecs, Hungary, summa cum laude (1994)
Employment:
  • Assistant Professor of Neurology, University at Buffalo (2010-present)
  • Assistant Professor of Neurology, Baylor College of Medicine, Baylor College of Medicine (2006–2010)

Research Expertise:
  • Alzheimer’s disease and memory disorders
Grants and Sponsored Research:
  • September 2010–August 2015
    2.Olfactory Receptor copy number variation association with age at onset of Alzheimer disease
    NIA
    Role: Principal Investigator
    $853,565
  • December 2010–November 2012
    1.Copy number variation genome wide association with age at onset of Alzheimer disease
    Alzheimer Association
    Role: Principal Investigator
    $88,000

Evaluative Studies and Case Reports:
Journal Articles:
See All (22 Total) >

Service Activities:
  • Alzheimer‘s Disease and memory Disorders Center; The Alzheimer’s Disease and Memory Disorders Center at the University at Buffalo, SUNY is a state of the art center specializing in cognitive disorders. Our mission is to provide compassionate, state of the art care for patients and families affected by Alzheimer disease and other cognitive disorders. We have a multidisciplinary approach with a team of professionals caring for the patients and families. The team includes neurologists, neuropsychologists, neuroimagers, social worker and nursing to address all the needs of the patients and caregivers. The Center is headed by Kinga Szigeti, M.D., Ph.D., a board-certified neurologist with specialty training in genetics and cognitive disorders. We have a research program using genetic tools to identify novel risk factors and potential pathways that can be targeted with medications to prevent or modify the course of Alzheimer disease. Our focus is on the translation of discoveries made in the laboratory into improved methods of disease prevention, diagnosis, and treatment.; Director (2011)

Clinical Specialties:
Clinical Offices:
Insurance Accepted:

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Contact Information

D-2 Buffalo General Hospital
100 High Street
Buffalo, NY 14203
Phone: (716) 859-7540
Email: szigeti@buffalo.edu

Patient Care

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