Research News

Symposium to discuss latest advances in genetic diseases, newborn screening

 Robert Guthrie holding a newborn.

Robert Guthrie, a UB faculty member and physician at the John R. Oishei Children’s Hospital from 1958-86, developed the blood spot test to screen for the genetic disorder called phenylketonuria (PKU) in newborns. Today, dozens of genetic diseases are detected from that single drop of blood.

By ELLEN GOLDBAUM

Published June 17, 2022

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Taosheng Huang MD PhD; Division Chief of Human Genetics; Department of Pediatrics; Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo; 2020.
“With this annual event, we would like everyone to know what UB, Oishei and Buffalo have contributed to this field, to recognize how Guthrie’s work has impacted science and medicine, and to discuss the rapid progress that is happening now. ”
Taosheng Huang, professor and chief, Genetics Division
Department of Pediatrics

Within a few days after birth, babies around the world undergo a quick needle prick to the heel. The blood drop that results is used to detect as many as 50 genetic disorders so that, if found, they can be treated starting right from birth.

Widely acknowledged to be one of the most cost-effective and successful public health advances of the past century, this simple procedure was developed in Buffalo by Robert Guthrie while he was a UB faculty member and physician at the John R. Oishei Children’s Hospital from 1958-86. Guthrie developed the blood spot test to screen for the genetic disorder called phenylketonuria (PKU) in newborns. Today, dozens of genetic diseases are detected from that single drop of blood.

On June 28, UB and Oishei will present the 2022 Robert Guthrie Symposium to honor his legacy and provide a forum where renowned genetics researchers and families affected by PKU and other genetic diseases can discuss the latest advances and future progress. Register online by visiting the UB Alumni site.

Buffalo’s profound contribution to genetics

“Everyone in the clinical genetics field knows of Dr. Guthrie’s profound contribution to the field,” says Taosheng Huang, professor and chief of the Genetics Division in the Department of Pediatrics, 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, to recognize how Guthrie’s work has impacted science and medicine, and to discuss the rapid progress that is happening now,” says Huang, who is also medical director at Genetics and Metabolism at Oishei, program director at Clinical Cancer Genetics at Great Lakes Cancer Center, and a physician with UBMD Pediatrics.

Recruited to UB and Oishei in 2020 from Cincinnati Children’s Hospital Medical Center, Huang is an expert in the genetics of mitochondrial diseases, newborn and prenatal screening and diagnosis. He has pioneered groundbreaking innovations in detecting and treating genetic diseases, including the potential to prevent genetic mutations from being passed to the fetus using a technique known as mitochondrial replacement therapy.

“Here at Oishei Children’s Hospital and the Jacobs School of Medicine and Biomedical Sciences, we are excited to build upon the legacy of Dr. Guthrie under Dr. Huang’s leadership and innovative research,” says Stephen Turkovich, chief medical officer for Oishei Children’s Hospital and clinical assistant professor in the Department of Pediatrics.

“Over the next decade, we anticipate significant advances in the field of newborn genetics and newborn screening. These advances will especially benefit the hundreds of babies admitted to our Level IV newborn intensive care unit every year,” Turkovich says.

Open to health care providers, families, researchers and community stakeholders, the free event will feature presentations, keynotes and panel discussions, and will introduce KSL Robert Guthrie Laboratories, featuring new and expanded newborn screening testing.

“We are so 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 has saved thousands of lives worldwide,” says Allison Brashear, vice president for health sciences at UB and dean of the Jacobs School, who will give opening remarks. “This important event and the recruitment of Dr. Huang to Buffalo demonstrate our shared commitment to continuing the newborn screening revolution that Guthrie founded.” 

Major clinical trial on PKU cure

A clear example of that commitment is the new clinical trial starting soon in Buffalo that Huang will be leading to test a gene-editing therapy developed by Homology Inc. that could cure PKU with a single injection.

Held both in-person and remotely, the day-long symposium will provide a forum where leading physicians and researchers in genetic and metabolic disorders will share the latest advances in research and clinical practices.

Research topics to be discussed include the status of newborn screening in Europe and in developing countries; optimizing newborn screening and therapies for metabolic disease; a genetic medicine approach toward curing PKU; and new UB research in enhancing newborn screening for Krabbe disease, which took the life of the son of Buffalo Bills quarterback Jim Kelly and others.

A critical ingredient in the forum is the opportunity for families affected by genetic diseases to gather with each other, with world-renowned researchers and with vendors who supply the nutritional formulas that many of these children depend on for their daily nutritional needs.

‘What we live with every day’

Staci and Eddie Kaspryzk had never heard of PKU. But when their daughter, Norah, was just six days old, they found out she had tested positive for the genetic disorder. Since that day, more than seven years ago, the family has undergone what all families experiencing genetic disease go through: a massive effort to understand the disorder and to deal with what it means day in and day out.

In addition to sharing critical information with other families and finding out about cutting-edge research, Kaspryzk says one of her goals in participating in the Guthrie Symposium is to simply raise awareness.

“Most people have either never heard of it or, if they have heard of PKU, they think that once you follow the proper diet that’s all there is to it,” she says. “But it’s not just dietary; it’s much more involved. I would just like people to start to understand what we live with every day.”

Like many metabolic diseases, PKU is caused by a genetic mutation that prevents the body from properly breaking down food. If the disease is not detected through newborn screening, it can quickly lead to irreversible brain damage, intellectual disability and neurological seizures.

Kaspryzk explains that both children and adults with PKU can consume no 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; the bulk of the PKU diet consists of nutritional formulas, which must be taken at specific times of the day. She notes that even a little variation in the schedule or the amount consumed can create both physical and emotional issues for the child.

She is now a board member of the Mid-Atlantic Connection for PKU and Allied Disorders, the purpose of which is to increase awareness of PKU and related disorders, and to underscore the importance of diagnosing these disorders at birth.

Her advice to families that are just finding out that their child has PKU or another metabolic disorder is this: “I would say just take one day at a time. It’s extremely overwhelming when you first come into this community, but it is completely manageable and the community is amazing.”

She adds that having Huang in Buffalo and the revival of clinical genetics research in the area is 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 great advance or a cure. There is so much more hope now than there even was just seven years ago when Norah was born. It’s extremely exciting.”