Genetics
The Medical Genetics program offers evaluation and counseling for individuals with concerns about birth defects, multiple medical problems, abnormal genetic testing, and a history of genetic disorders. We review the medical and family history, perform a detailed physical exam, and determine if genetic testing is needed in order to establish an underlying genetic diagnosis. We provide a management plan and counsel regarding the diagnosis, test results and potential recurrence risks.
the metabolic program sees individuals with abnormal newborn screening results, abnormal biochemical testing results, and patients with a known metabolic disease. We review the medical and family history, perform a detailed physical exam, and determine if biochemical and genetic testing is needed to establish a diagnosis. Once diagnosed, we provide a team approach to clinical care. Patients are seen long-term by our nurse practitioner, genetic counselor, registered metabolic dietitian, social worker and registered nurse. We provide an individualized management plan for each patient regarding medications, dietary changes and follow-up as well as including emergency and sick day protocols when appropriate.
Providers
Director of Medical Genetics & Associate Professor of Pediatrics
Education:
- Medical degree at SUNY Health Science Center at Syracuse in 1990 Pediatric Residency at Strong Memorial Hospital/University of Rochester 1993
- Medical Genetics Fellowship at the Children's Hospital of Philadelphia in 1996
- Research Fellowship at the Children's Hospital of Philadelphia in 1997
Services provided:
- Medical Genetics
- Metabolics
Clinical Background and My Approach to Care:
I am the director of the Inherited Metabolic Diseases Specialty Center at Upstate and the Chief of the Section of Pediatric Genetics. I am passionate about providing medical services to our patients with genetic disorders, particularly those with inborn error of metabolism. This is a small group of individuals, but they require highly specialized treatment that can make a huge difference in their lives. I am also an advocate for newborn screening, genetic testing and genetic servicers as part of our heath care system. I am very involved in the newborn screening program and am on the committee for rare diseases in the state.
Professor of Pediatrics, Professor of Medicine, Professor of Obstetrics and Gynecology, Professor of Pathology
Education:
- B.S. in Zoology from University of Massachusetts (1969)
- M.S. in Zoology from University of Massachusetts (1970)
- M.A. in Philosophy from Boston College (1974)
- M.Div. in Theology from Jesuit School of Theology at Berkeley (1975)
- S.T.M. in Ethics from Jesuit School of Theology at Berkeley (1976)
- M.S. in Genetics from University of Wisconsin, Madison (1977)
- M.D. in Medicine from University of Wisconsin, Madison (1982) Residency in Internal Medicine, University of Wisconsin, Milwaukee (1982-1985)
- Fellowship in Medical Genetics, University of Wisconsin, Milwaukee (1985-1987)
Services provided:
- Medical Genetics
Clinical Background and My Approach to Care:
During over 50 years in this field, I have seen 15,000 patients for evaluation, consultation and testing. Having encountered many rare and complex diagnoses, I have over 340 publications in this and related fields (e.g. medical ethics). It is a privilege and joy to be able to find and explain the causes of health problems, for patients of all ages.
Assistant Professor of Pediatrics
Education:
- B.S. in Medicine and Surgery from Ramaiah Medical College Bangalore India
- M.S. in Clinical Genetics from University of California San Francisco, USA
Services provided:
- Medical Genetics
Clinical Background and My Approach to Care:
As a clinical geneticist, my work revolves around uncovering the genetic basis of various medical conditions. I assess patients with suspected or known genetic disorders, conducting thorough evaluations to identify specific genetic abnormalities or risks. This often involves gathering detailed family histories, performing genetic testing, and interpreting the results to guide diagnosis and treatment decisions. Additionally, I provide counseling and support to patients and their families, helping them understand the implications of genetic findings and navigate available resources. Collaboration with other medical specialists is crucial, as genetic conditions can impact multiple aspects of health. Ultimately, my goal is to improve patient care by integrating genetic knowledge into personalized medical management plans.
Registered Dietician Nutritionist
Education:
- B.S in Biology with a minor in Chemistry from Nazareth College in 2010
- M.S. in Nutrition Science from Syracuse University, Syracuse, NY in 2018 Dietetic Internship completed at Duke University Hospital, Durham NC, 2018-2019
Services provided:
- Nutrition therapy for Inborn Errors of Metabolism.
- Nutrition therapy at Karjoo Family Center for Pediatric Gastroenterology.
- Nutrition therapy at the Ketogenic clinic.
Clinical Background and My Approach to Care:
I am passionate about using evidence-based practices/research to provide individualized nutrition therapy to patients and families with inborn errors of metabolism. I like to use the approach that nutrition/food are medicine to help patients navigate life with an inborn error of metabolism. I hope to help children and families understand how food can impact their growth and development.