Jayant Pinto, MD

Assistant Professor
Otolaryngology - Head & Neck Surgery
Department of Surgery
5841 S. Maryland Ave., MC1035, Chicago, IL 60637
Phone: 773-702-6727
Email:

Education
B.S.: Stanford University, Stanford, CA Bachelor of Arts in History and Bachelor of Science with Honors in Biological Sciences
M.D.: Stanford University, Palo Alto, CA Medicine
Internship: University of Chicago Hospitals, Chicago, IL General Surgery
Fellowship: University of Chicago Hospitals, Chicago, IL Otolaryngology- Head and Neck Surgery, Depatment of Human Genetics, and Section of Pulmonary/ Critical Care Medicine
Fellowship: The University of Chicago, Chicago, IL US Certificate in Clinical Research, Clinical Research Training Program, Department of Health Studies
Residency: University of Chicago Hospitals, Chicago, IL Otolaryngology- Head and Neck Surgery
Board Certification: American Board of Otolaryngology, Houston, TX US Otolaryngology

Pinto Group Links

• Clinical Interests
• Complete Bibliography

Age-Related Olfactory Decline: The Role of Genetic Factors

Dr. Pinto is an Assistant Professor in the Section of Otolaryngology-Head and Neck Surgery at the University of Chicago's Pritzker School of Medicine. He was drawn to the specialty of otolaryngology primarily because of the breadth of clinical problems, impact on a wide range of the population, and central focus on the essentials in life (hearing, smell, speech, swallowing, breathing) which are critical as people age. While treating patients, Dr. Pinto was struck by the need to understand the biology of sensory disorders to develop better diagnosis, improved treatment, and ultimately, preventative strategies. To help improve the quality of life for older adults, he is embarking on a study targeting the genetic basis of olfactory decline, including the relationship of olfaction to other neurodegenerative disorders, sensory deficits, and cognitive impairments in the elderly. The goal of this work is to understand what factors predispose elderly individuals to lose olfactory function, and ultimately, to develop therapies to alleviate or prevent this important sensory deficit.

Olfactory dysfunction is an important public health problem in the US, with approximately 14 million elderly Americans having chronic olfactory problems. Because olfaction declines with age, the clinical impact is likely to increase as our population ages. Furthermore, the relationship of olfaction to other neurodegenerative disorders, sensory deficits, and cognitive impairments in the elderly, its relationship to other special senses, and the importance of olfaction in evolution emphasize the importance of further investigation in this field.

Studies of olfactory physiology in humans have been limited by access to tissue, potential influences of environmental factors, and the complexity of the neurosensory physiology. Therefore, we took a novel approach to investigating olfaction in humans. We performed a genome-wide screen for loci influencing susceptibility to age-related olfactory loss (presbyosmia) in the Hutterites, a founder population that practices a communal lifestyle. Using interviews and objective testing, we identified subjects with olfactory loss. A genome screen for loci underlying susceptibility to presbyosmia was performed. The most significant evidence for linkage with presbyosmia extended over a 49 cM region on chromosome 4q (P = 0.0013). These results represent the first genome-wide screen for a chemosensory phenotype in humans and also offer the strongest data to date on the effects of genetic variation on age-related olfactory dysfunction.

I propose to identify the gene on chromosome 4q that causes olfactory dysfunction in the Hutterites by positional cloning. We will first narrow our region of interest through high density single nucleotide polymorphism (SNP) genotyping and then examine SNPs in candidate genes to assess evidence for association. I also propose to validate our screening instrument. This approach will provide insight into the pathophysiology of olfactory dysfunction and, ultimately, may lead to improved diagnostic and therapeutic modalities for this important disease.

The Department of Surgery • Section of Surgical Research • Surgery Brain Research Building, Room J557 • 5841 South Maryland Ave., MC 5032 • Chicago, IL 60637
Karl S. Matlin, PhD  •  Professor and Vice-Chair for Research  • (773) 834-8044 (phone)  • (773) 834-4546 (fax)
@ 2008 The University of Chicago Department of Surgery