Robert Guthrie, known as the “Father of Newborn Screening,” checks out one of the infants who benefited from his work in this 1982 photo. Courtesy of the UB Archives.
Release date: June 16, 2022
BUFFALO, NY – Within days of birth, babies around the world experience a quick needlestick in the heel. The resulting drop of blood is used to detect up to 50 genetic conditions so that, if detected, they can be treated from birth.
Widely recognized as one of the most cost-effective and successful public health advances of the last century, this simple procedure was developed in Buffalo by Robert Guthrie, MD, PhD, while he was a faculty member at the University at Buffalo and physician at John R. Oishei Children’s Hospital from 1958 to 1986. Guthrie developed the blood test to screen for the genetic condition called phenylketonuria (PKU) in newborns. Today, dozens of genetic diseases are detected from this single drop of blood.
On June 28, UB and Oishei will present the Robert Guthrie Colloquium 2022 to honor his legacy and provide a forum where renowned genetic researchers and families affected by PKU and other genetic diseases can discuss the latest advances and future advancements. Register online by visiting the UB Alumni site.
Buffalo’s Profound Contribution to Genetics
Taosheng Huang, MD, PhD, Division Chief of Human Genetics, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences.
“Everyone in the field of clinical genetics knows of Dr. Guthrie’s profound contribution to this field,” said Taosheng Huang, MD, PhD, professor and head of the division of genetics in the department of pediatrics at Jacobs School of Medicine. and Biomedical Sciences at UB.
“With this annual event, we would like everyone to know what UB, Oishei and Buffalo have contributed to this field, recognize the impact of Guthrie’s work on science and medicine, and discuss the rapid advances that are happening now. said Huang, who is also medical director of genetics and metabolism at Oishei, program director of clinical cancer genetics at Great Lakes Cancer Center, and physician at UBMD Pediatrics.
Recruited to UB and Oishei in 2020 from Cincinnati Children’s Hospital Medical Center, Huang is an expert in mitochondrial disease genetics, neonatal and prenatal screening and diagnosis. He pioneered breakthrough innovations in the detection and treatment of genetic diseases, including the potential to prevent the transmission of genetic mutations to the fetus using a technique known as mitochondrial replacement therapy.
“Here at Oishei Children’s Hospital and Jacobs School of Medicine and Biomedical Sciences, we are thrilled to build on Dr. Guthrie’s legacy under Dr. Huang’s leadership and innovative research,” said Stephen Turkovich. , MD, Chief Medical Officer of Oishei Children’s. Hospital and Clinical Assistant Professor in the Department of Pediatrics at the Jacobs School
“Over the next decade, we anticipate significant advances in the field of neonatal genetics and newborn screening. These advances will particularly benefit the hundreds of babies admitted to our Level IV Neonatal Intensive Care Unit each year,” Turkovich said.
Open to healthcare providers, families, researchers and community stakeholders, the free event will include presentations, keynotes and panel discussions, and feature KSL Robert Guthrie Laboratories, offering new and expanded.
“We are very proud to honor the life and legacy of Dr. Guthrie, the ‘Father of Newborn Screening’, whose groundbreaking work at UB and Oishei Children’s Hospital saved thousands of lives. around the world,” said Allison Brashear, MD, vice president of health sciences at UB and dean of the Jacobs School, who will deliver the keynote address.
“This significant event and the recruitment of Dr. Huang to Buffalo demonstrate our shared commitment to continuing the newborn screening revolution founded by Guthrie.
Major clinical trial on a cure for PKU
A clear example of this commitment is the new clinical trial Huang will soon lead in Buffalo to test a gene-editing therapy developed by Homology, Inc. that could cure PKU with a single injection.
Held in person and remotely, the one-day symposium will provide a forum where leading physicians and researchers in the field of genetic and metabolic disorders will share the latest advances in research and clinical practice.
Research topics to be discussed include the state of newborn screening in Europe and developing countries; optimize neonatal screening and therapies for metabolic diseases; a genetic medicine approach to curing PKU; and new research from UB to improve newborn screening for Krabbe disease, which claimed the life of Buffalo Bills quarterback Jim Kelly’s son and others.
An essential ingredient of the forum is the opportunity for families affected by genetic diseases to come together, with world-renowned researchers and with suppliers who provide the nutritional formulas that many of these children depend on for their daily nutritional needs.
“What we live on a daily basis”
Staci and Eddie Kaspryzk had never heard of PKU. But when their daughter Norah was just six days old, they discovered she had tested positive for the genetic condition. Since that day, more than seven years ago, the family has gone through what all families with a genetic disease go through: a massive effort to understand the disease and come to terms with what it means day in and day out.
Along with sharing critical information with other families and learning about cutting-edge research, Kaspryzk says one of her goals in attending Guthrie’s symposium is simply to raise awareness.
“Most people have never heard of it, or if they’ve heard of PKU, they think that once you’re on the right diet, that’s all there is to it” , she says. “But it’s not just dietary, it’s much more involved. I just wish people would start to understand what we live with on a daily basis.
Like many metabolic diseases, PKU is caused by a genetic mutation that prevents the body from breaking down food properly. If the disease is not detected by newborn screening, it can quickly lead to irreversible brain damage, intellectual disability and neurological crises.
Kaspryzk explains that children and adults with PKU cannot consume more than a few grams of protein per day; she adds, for example, that a single ounce of pasta contains 8 grams. The diet must be precisely controlled; most of the PKU diet consists of nutritional formulas, which must be taken at specific times of the day. She notes that even a small variation in the schedule or the amount consumed can create physical and emotional problems for the child.
She is now a board member of the Mid-Atlantic Connection for PKU and Allied Disorders, whose goal is to increase awareness of PKU and related disorders, and to highlight the importance of diagnosing these disorders at the birth.
His advice to families who are just finding out their child has PKU or another metabolic disorder is, “I would say just take it a day at a time. It’s extremely overwhelming when you first enter this community, but it’s totally manageable and the community is amazing.
She adds that Huang’s presence in Buffalo and the revival of clinical genetics research in the region are a tremendous boon. “Dr. Huang has brought so much to our clinic for PKU and genetics,” she says.
“I hope in my lifetime and I know in my daughter’s lifetime there will be a big breakthrough or a cure. There is so much more hope now than just seven years ago when Norah was born. It’s extremely exciting.