Great Plains summit to focus on rare neurodevelopmental disorders

The event, hosted by Sanford Research, will be held May 11-12 in South Dakota

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by Mary Chapman |

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The Sanford CoRDS 13th Annual Great Plains Rare Disease Summit will focus on rare neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency.

The event, hosted by Sanford Research, will be held May 11-12 virtually and in person in Sioux Falls, South Dakota, and feature presentations by rare disease clinicians and experts as well as disease advocates. Each day will include a question-and-answer session.

The summit is open to patients, families, researchers, and other community stakeholders. Those who wish to attend may register online, by email to [email protected], or by calling 877-658-9192.

Sanford Research, part of South Dakota-based Sanford Health, is a biomedical research institute that supports basic, translational, and clinical research in areas that include rare neurodevelopmental disorders.

“This annual event brings together incredible researchers and those affected by rare diseases to collaborate amongst one another,” David A. Pearce, PhD, president of research at Sanford Health and chair of the International Rare Disease Research Consortium, said in a press release. “The goal of this year’s summit is to educate people on the advancements being made in the field of pediatric neurodevelopmental disorders and to talk about both clinical and research aspects of rare diseases.”

Sanford Research’s Coordination of Rare Diseases at Sanford (CoRDS) is a centralized global patient registry for people with a rare disease, those carrying rare disease-causing mutations who may or may not show symptoms, and people with an undiagnosed condition.

The largest free international rare disease registry, CoRDS’ ultimate goal is to advance research for more than 10,000 rare diseases by connecting participants, scientists, and advocates.

By gaining insight into how specific rare diseases progress, the researchers aim to identify and develop new treatments, an unmet need for most of the 1 in 10 people worldwide believed to have a rare disease.

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Speakers for first, second days

The summit’s first day will be tailored toward patients, caregivers, and advocacy groups. It will start with a presentation by Ashish Gupta, MD, on the impact of stakeholder advocacy. Gupta is an assistant professor in the pediatrics department at the University of Minnesota.

Britanny Thomas, genetic counselor manager at Illumina, will talk about that company’s iHOPE Program, which aims to make clinical whole-genome sequencing accessible to underserved children with rare and undiagnosed genetic diseases. Whole-genome sequencing allows for the analysis of a cell’s entire genetic information.

Mothers of children with rare conditions who founded patient advocacy groups will also make a presentation.

On the second day, Stefan Barakat, PhD, MD, an associate professor of clinical genetics at Erasmus University Medical Center, the Netherlands, will discuss ways to find new causes of neurodevelopmental disorders, which will be that day’s focus.

Wei Zheng, PhD, group leader at the National Institutes of Health’s National Center for Advancing Translational Sciences, will discuss accelerating rare disease therapy development.

Also, Ikuo Masuho, PhD, assistance scientist of pediatrics and rare diseases at Sanford Research, will talk about applying quantitative systems biology to rare diseases. Quantitative systems biology uses mathematical, statistical, or computational techniques as well as high-throughput experimental systems approaches to solve biological questions.

Marshall Summar, MD, professor of pediatrics and genetic medicine at Children’s National Hospital/University, will speak about rare disease as an emerging unique field of medicine.

AADC deficiency is a rare genetic disorder marked by symptoms such as developmental delays, movement disorders, excessive sweating, trouble sleeping, and behavior problems. The disease is caused by the lack of the AADC enzyme, which is due to mutations in the DDC gene. The AADC enzyme is needed to produce the major chemical messengers dopamine and serotonin in the brain.