New UW clinic to use latest genetic technology to help patients with unknown diseases

Twelve years after scientists in Wisconsin delved into all the genes of a young Madison-area boy, diagnosed a new disease and saved the child's life, a new clinic will try to do the same for scores of other people suffering from mysterious illnesses.

The University of Wisconsin Center for Human Genomics and Precision Medicine opened a new clinic Friday that will use the latest genetic technology, and exploit connections to top scientists around the world in order to help patients who have been at the mercy of unknown diseases.

Stephen Meyn, who directs the Center for Human Genomics and Precision Medicine, said the new clinic represents an initial investment of several million dollars and is expected to take on around 100 cases a year "and ramp up from there."

The clinic has already "reviewed over 50 cases so far with a very wide range of conditions from birth defects to neurologic problems to skeletal disorders and immune system problems," Meyn said. 

"In just reviewing them, we think we may have solved one of the cases already."

Meyn said that although the team has yet to examine the patient, they have reviewed medical records that point toward a disease-causing variation, or variant, in the person's genetic code.

The clinic, located in the Waisman Center, will partner with the Wisconsin State Laboratory of Hygiene, the Biotechnology Center at UW-Madison, Stanford University in California and The Hospital for Sick Children in Toronto. Meyn said that in addition to the clinic for patients, the project will also include research.

Special Report: In a desperate bid to save Nic Volker's life, doctor's push medicine's frontier. Read the Journal Sentinel's Pulitzer Prize-winning report.

The 2009 effort to save Nic Volker

The massive effort by scientists and doctors at the Medical College of Wisconsin and Children's Wisconsin in 2009 led to the diagnosis of a 5-year-old boy named Nic Volker, who had been suffering from a mysterious gut disease.

Volker had endured more than 100 trips to the operating room and had come perilously close to dying before doctors were able to pinpoint the cause of his illness to a single defect in one of the body's 20,000 or so genes. Ultimately, Volker was diagnosed with a new disease and saved through an umbilical cord blood transplant.

His successful treatment kickstarted the movement to apply the knowledge gained from the Human Genome Project completed in 2003 to the treatment of patients in the hospital. The National Institutes of Health has estimated that there may be as many as 7,000 rare diseases, the majority genetic, afflicting 25-30 million Americans.

In 2013, Children's and the Medical College launched the Nelson Service for Undiagnosed and Rare Diseases, staffed by a core group of five doctors. Between 2013 and 2019, the program has examined about 300 patients, some from as far away as Thailand. Most of the patients are children.

Donald Basel, the program's associate director, said that when their doctors use gene sequencing they are able to diagnose about 42% of patients with previously unknown illnesses.

"I don't think it has peaked," Basel said, referring to the field of genomic medicine.  

Since the sequencing of Nic Volker, technology has drastically cut down the time needed to read the full 3.2 billion pairs of chemical bases that make up a person's genome.

A sequencing process that took years to compete at the beginning, took several months in Volker's case.

Today sequencing can be done in two days in emergency cases, Meyn said. Certain genetic disorders can be treated if they're detected early enough. 

Although all of Volker's gene's were sequenced in 2009, scientists used a short cut that allowed them to view the 1.2% of the genetic code considered most likely to contain the disease-causing defect. Since then, however, doctors and scientists have found that some diseases involve mistakes in the other 98.8% of the genome.

UW's new clinic will be able to view almost the entire genetic code, including the 8% to 12% often missed in standard analysis of human genomes.

Meyn said the clinic will focus most of its attention on diseases caused by problems in an individual gene, but will also look at some ailments that involve defects in two or more genes.

People with undiagnosed diseases must be referred to the clinic by either a primary care doctor or specialist. Meyn said the clinic will take patients from all over the country, though he expects most will be local.