Pediatrics Department to Host Genetics Conference

The Department of Pediatrics has received a $10,000 grant from the Dakota Medical Foundation to conduct a conference on genetics and health care next spring in Fargo.

The grant will be used to organize and present the conference, “Hearing Hoofbeats and Thinking Zebras: Screening, Testing and Management of Children with Genetic Disorders,” set for April 23-24 at the Fargo Ramada Inn.

Sponsored by the Division of Medical Genetics, part of the pediatrics department at the UND medical school, the event is intended for primary health care providers, especially family physicians, pediatricians, nurse practitioners and physician assistants.

It will focus on North Dakota’s newborn screening program as well as the diagnosis, treatment and management of infants who have been identified as having Smith-Lemli-Opitz Syndrome (SLOS) or other metabolic disorders.

By law, every infant born in North Dakota is screened for 37 disorders, some of which “are difficult to treat and some must be treated quickly” to avoid sickness or death of the child or potentially serious, lifelong consequences, according to John Martsolf, M.D., professor of pediatrics and director of the Division of Medical Genetics at the medical school.

“It is important that front-line, primary care health providers know what to do if they have a patient who’s been detected with a disorder from the newborn screen,” he said.  “Proper emergency management of children with metabolic disorders is critical.”

Martsolf, North Dakota’s only clinical geneticist, says conference participants will also explore “how the state’s newborn screening program is working and how the follow-up has gone,” he said.  The event also will provide “a forum for discussion of the resources available in North Dakota for these children.”

The title of the conference, “Hearing Hoofbeats and Thinking Zebras,” refers to the need for health care providers, when presented with common signs and symptoms, to think of the unusual or uncommon possibilities, Martsolf said.

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