Robert Guthrie Symposium 2022

Picture of Dr. Robert Guthrie.

Dr. Robert Guthrie, known as the "Father of Newborn Screening," checks on one of the infants who benefited from his work in this 1982 photo. Courtesy UB Archives.

The 2022 Robert Guthrie Symposium is an all-day, hybrid educational event honoring the life and legacy of Robert Guthrie, MD, PhD, and his attachment to the University at Buffalo and Oishei Children's Hospital.

This year, our focus is on the past, present, and future of newborn screening and metabolic disorders.  The goal of the event is to educate professionals and patients on metabolic disorders and their treatment options, as well as the history and current practices of newborn screening.

This annual symposium is a forum for world-renowned physicians and scientists to share their knowledge with providers, families and community stakeholders. Our speakers will discuss pioneering research and clinical practices in genetic and metabolic disorders.

Symposium Details

The Annual Guthrie Symposium was held on June 28, 2022 at M&T Auditorium, Jacobs School of Medicine and Biomedical Sciences.

You can view the materials from the event below!

Robert Guthrie.



8:00 am – 9:00 am


9:00 am – 9:30 am

Opening Remarks

Allison Brashear, MD, MBA
Vice President for Health Sciences and
Dean, Jacobs School of Medicine and Biomedical Sciences

Steven E. Lipshultz, MD
A. Conger Goodyear Professor and Chair of the Department of Pediatrics
Pediatric Chief-of-Service, Kaleida Health
Medical Director of Pediatric Services Business Development, Oishei Children's Hospital
President, UBMD Pediatrics

Stephen J. Turkovich, MD
Chief Medical Officer, Oishei Children’s Hospital
Clinical Assistant Professor, Department of Pediatrics

9:30 am – 9:50 am

Diagnostic Odyssey of Dr. Robert Guthrie’s Granddaughter

James Guthrie, PhD
Dr. Robert Guthrie’s son, Professor Emeritus, the University of Kansas School of Business 

9:50 am – 10:20 am


Current Status of Newborn Screening: a View from Europe and Developing Countries

James Bonham, PhD
President, International Society of Neonatal Screening
Co-Chair, Global Task Force on Newborn Screening

10:20 am – 10:50 am

Making Decisions About Expanding Newborn Screening

Alex Kemper, MD, MPH, MS
Division Chief, Primary Care Pediatrics, Nationwide Children’s Hospital
Professor of Pediatrics, The Ohio State University College of Medicine
Chair, Condition Review Workgroup, U.S. Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children

10:50 am - 11:00 am


11:00 am - 11:30 am

Robert Guthrie Lifetime Achievement Award Ceremony Presented by the Guthrie Family, Drs. Lipshultz and Huang, and Other Committee Members

Harvey Levy, MD
Senior Physician in Medicine and Genetics, Division of Genetics and Genomics, Boston Children's Hospital
Professor of Pediatrics, Harvard Medical School

R. Rodney Howell, MD
Emeritus Professor and Chair, Department of Pediatrics
Emeritus member, Hussman Institute for Human Genomics,
University of Miami Miller School of Medicine

11:30 am – 12:00 pm

Striving for Excellence: Improving Sensitivity and Specificity by Altering Newborn Screening Test Algorithms

Michele Caggana, ScD, FACMG
Deputy Director, Division of Genetics
Chief, Laboratory of Human Genetics
Director, Newborn Screening Program, New York State Department of Health's Wadsworth Center

12:00pm – 12:30pm


Optimizing Newborn Screening to Maximize Specificity and Sensitivity

Tricia Hall, PhD
Co-Director, Biochemical Genetics Laboratory at Mayo Clinic

12:30pm – 1:20pm

Lunch & PKU Formula Testing

Staci Kasprzyk
Board Member, Mid-Atlantic Connection for PKU and Allied Disorders

1:20 pm- 1:30 pm

Grand Reopening of the Robert Guthrie Laboratory

1:30 pm – 2:00 pm


Recent Advancements in Developing New Treatments and Therapies for Metabolic Diseases

Gerard Berry, MD
President, Society for Inherited Metabolic Disorders
Director, Metabolism Program and Harvey Levy Chair in Metabolism, Boston Children’s Hospital
Professor of Pediatrics, Harvard Medical School

2:00 pm – 2:30 pm

A Genetic Medicine Approach toward the Cure of PKU

Albert Seymour, PhD
Chief Scientific Officer, Homology Medicines, Inc.

2:30 pm – 3:00 pm

The Congenital Disorders of Glycosylation Potentially Included in Newborn Screening

Miao He, PhD
Co-Director, KSL/Robert Guthrie Laboratory
Co-Director, Michael Palmieri Laboratory for Metabolic and Advanced Diagnostics, Children’s Hospital of Philadelphia
Adjunct Associate Professor of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine

3:00 pm – 3:30 pm

Enhancement of the Newborn Screening Paradigms for Krabbe disease, Mucopolysaccharidosis Type 1 and Pompe disease by Application of Bivariate Normal Limit Theory

Thomas J. Langan, MD
Clinical Research Director, Institute for Myelin and Glia Exploration (IMAGE)
Associate Professor of Neurology, Pediatrics, and Physiology and Biophysics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences

Panel Session Host: Teresa Campbell, MS, CGC

3:30 pm - 4:00 pm


  • James Guthrie, PhD
  • Patricia Guthrie, MA
  • Gerard Berry, MD
  • Alex Kemper, MD
  • Michele Caggana, ScD, FACMG
  • Tricia Hall, PhD
  • James Bonham, PhD
  • Miao He, PhD
  • Albert Seymour, PhD
  • Thomas Langan, MD
  • Staci Kasprzyk
  • Margie McGlynn, RPh
  • Taosheng Huang, MD, PhD

4:00 pm – 4:10 pm

Closing Remarks

Taosheng Huang, MD, PhD
Chair, Guthrie Symposium Planning Committee,
Professor and Division Chief, Genetics, Department of Pediatrics, University at Buffalo
Director of Medical Genetics, Oishei Children’s Hospital


Planning Committee

  • Taosheng Huang (Chair of the Planning Committee): UBMD Pediatrics, University at Buffalo
  • Staci Kasprzyk: National PKU Alliance
  • Amy Lachuk: The Children's Hospital of Buffalo Foundation
  • Andy Lashua: The Children's Hospital of Buffalo Foundation
  • Margie McGlynn: HCU Network America
  • Kathy Rygg: UBMD Pediatrics
  • Jesse Slone: UBMD Pediatrics
  • Kathy Swenson: Jacobs School of Medicine and Biomedical Sciences, University at Buffalo
  • Jennifer Britton: Division of University Advancement, University at Buffalo
  • Abigail Robertson: The Children's Hospital of Buffalo Foundation
  • Miura Wiley: Jacobs School of Medicine and Biomedical Sciences, University at Buffalo
  • Renee Zureck: KSL Diagnostics


To make a donation to The Children's Hospital of Buffalo Foundation, please click here.

Sponsorship support from

Genome Sponors

Double Helix Sponsors

Exome Sponors

Gene Panel Sponsors