Undiagnosed Diseases Network


NASHVILLE, Tenn. (Ivanhoe Newswire) — Imagine if your child had trouble walking or talking but doctors couldn’t tell you what was wrong. That’s the case for thousands of families in the U.S. But researchers are giving hope to those with undiagnosed diseases.

“She’s actually the most determined person I’ve ever met,” said Gia Sutermeister.

Sutermeister is talking about her daughter Anneliese who was born with neurological issues. But after dozens of tests, still no diagnosis.

“It’s a challenging and emotional time because not only do you not have an answer but you also know there are no treatments,” Sutermeister shared.

Doctors estimate there are 30 million Americans living with a rare or undiagnosed disease.

Rizwan Hamid, MD, Professor of Pediatrics and Director of Division of Medical Genetics at Vanderbilt Undiagnosed Diseases Network said, “Even with the best of care, at the best medical centers, these patients never receive a diagnosis.” (Read Full Interview)

It can be especially devastating for parents of children like Anneliese, with no answers in sight.

That’s why Congress funded the Undiagnosed Diseases Network. First, researchers comb through the patient’s medical records.

“That process in itself can take two to three months,” Dr. Hamid said.

Then a team of clinical specialists decode the patient’s genome, looking for clues.

“We want to get a very comprehensive picture of what is going on,” Dr. Hamid continued.

The answer may come quickly or it may take years. But the goal is to give the patient the best possible hope.

“We will continue to do research on these patients and you will get clues,” Dr. Hamid told Ivanhoe.

In Anneliese’s case they’re getting closer, honing in on the gene that caused her disease.

“I think every parent of a child with a rare disease hopes for a treatment and a cure,” Sutermeister said.

Anneliese is in a stable disease state and is starting kindergarten in the fall. The Undiagnosed Diseases Network has expanded to seven clinical sites across the country and is free to patients whose cases are accepted. For more information please visit: https://ww2.mc.vanderbilt.edu/undiagnosed/ or https://undiagnosed.hms.harvard.edu

Contributors to this news report include: Janna Ross, Field Producer; Cyndy McGrath, Supervising Producer; Hayley Hudson, Assistant Producer; Roque Correa, Videographer; Roque Correa, Editor.

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REPORT:        MB #4413


LOCATIONS: The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. The clinical sites, where UDN participants are evaluated, are located at: Baylor College of Medicine in Houston, Texas; Duke Medicine in Durham, North Carolina; Columbia University Medical Center in New York, New York; Harvard Teaching Hospitals (Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital) in Boston, Massachusetts; National Institutes of Health Clinical Center in Bethesda, Maryland; Stanford Medicine in Palo Alto, California; University of California, Los Angeles in Los Angeles, California and Vanderbilt University Medical Center in Nashville, Tennessee.

(Source: https://undiagnosed.hms.harvard.edu/about-us/)


BACKGROUND: Rizwan Hamid, MD, PhD, Professor of Pediatrics and Director of Division of Medical Genetics at Vanderbilt, also one of the Principle Investigators along with John Phillips and John Newman of the Vanderbilt Undiagnosed Disease Network Program said various studies have suggested that maybe there are about 200,000 adults and children in United States who have a rare disease. One of the key goals of the network, as they identify rare presentations of known disorders is to put that information out, either on their website, their social media pages, in medical journals or present the findings at national meetings. Dr. Hamid says, “The idea here is that there are not enough doctors in the United States specializing in rare disease diagnosis and management to take care of all the patients. The idea is as we find things, as we gather knowledge is to send that knowledge out with a defined protocol.”

(Source: Rizwan Hamid, MD, PhD)


PROCESS: Any patient who has a disease without a diagnosis can apply at https://undiagnosed.hms.harvard.edu/apply/. It is a simple application requiring basic information such as name, age, and date of birth, accompanied by a letter from their physician explaining why their symptoms are unusual. After a patient is assigned a location, all of their medical records will be reviewed. Additional tests may be done, and doctors decode the genetic code for the patient. Sometimes an answer is found immediately, but sometimes the genetic code will point to possible conditions that will then be explored. The evaluation is free to the patient.

(Source: Rizwan Hamid, MD, PhD)


Craig Boerner, PR



If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com

Doctor Q and A

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