Researchers discover disorder, work with local family to help identify remedies for others in the future

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AURORA | Modern genetic research doesn’t happen by itself.

Technology lets researchers working similar paths easily and quickly share information, adding to their mountains of data so they can quickly make medical breakthroughs.

Dr. Tamim Shaikh, a professor of pediatrics at University of Colorado School of Medicine, saw that scenario play out for him and his team of researchers at the Anschutz Medical Campus.

 

University of Colorado School of Medicine researcher Dr. Tamim Shaikh describes his recent discovery, Sept. 10 at Anschutz Medical Campus. An international team of scientists, including University of Colorado School of Medicine and Children’s Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.  (Marla R. Keown/Aurora Sentinel)
University of Colorado School of Medicine researcher Dr. Tamim Shaikh describes his recent discovery, Sept. 10 at Anschutz Medical Campus. An international team of scientists, including University of Colorado School of Medicine and Children’s Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12. (Marla R. Keown/Aurora Sentinel)

With the help of a remarkably willing local family, dedicated researchers across two countries willing to share their data — and smart enough to recognize the similarities between their work and the work of other researchers — Shaikh and his team have cracked a complex genetic code that causes a debilitating disorder.

Last week, the university announced that Shaikh and a team of researchers from the school of medicine and Children’s Hospital Colorado had discovered a new disease related to a devastating disorder that leaves patients unable to process a key vitamin. That vitamin, B12, also known as cobalamin, is vital to the body’s nervous system and helps convert food into fuel. Although the disorder isn’t fatal by itself, it can lead to developmental problems later. Patients with the newly discovered disease — dubbed cobalimin X, or cblX — can wind up with a variety of serious health and developmental struggles, including epilepsy, anemia, stroke, psychosis and dementia.

The discovery was published last week in The American Journal of Human Genetics and university officials said it illustrates a complex and relatively new realm of research where scientists study the genetic composition of patients to pinpoint the cause of a disease.

According to the university, the discovery could help doctors diagnose the disease and, eventually, lead to prevention or treatment. But this story was special for another reason.

Max Watson is a 9-year-old Westminster boy who is the first patient diagnosed with the new disease. With an uncommon level of support from Max’s family — including his 15-year-old sister, Abbey — researchers were able to make the necessary breakthroughs to finally understand the disease.

Deana Watson, Max’s mom, said the family has been realistic about how the research could effect Max and recognize that it likely won’t lead to a cure for him.

Still, participating in the research means doctors will better understand Max’s condition, and a deeper understanding is always helpful. Maybe it could mean fewer medications, she said. The research also means other families might not have to face the same difficulties Max has.

Shaikh said he and the other researchers have been regularly impressed by the Watson family and their willingness to help. The family submitted to DNA testing and have worked closely with researchers along the way.

“They have just been an amazing family,” Shaikh said.

Humans usually obtain B12 from milk, eggs, fish and meat. But patients like Max are unable to absorb the essential vitamin and as a result, suffer serious medical struggles.

Max needs constant assistance in his daily life, including a specialized wheelchair and devices to help him stand and move to a bed. He can’t be in a classroom, so he attends school over the Internet.

When he was born, Max had symptoms similar to a B12 problem called cobalamin C deficiency or cblC. But Max’s symptoms didn’t match up with cblC exactly, and doctors realized the genetic mutation common to that disease wasn’t present in Max.

Dr. Johan Van Hove, a CU medical school professor in the Department of Pediatrics saw Max when the boy was just a few months old.

“We knew from early on that something was unusual about this patient,” he said in a statement announcing the discovery.

With those doubts in mind, a team of researchers including metabolism experts at Children’s, Shaikh, and other CU researchers closely examined Max’s case.

The work included a close look at Max’s DNA and researchers also studied other patients like Max who didn’t seem to fit the typical diagnoses. They worked with research partners at the National Institutes of Health, and in Canada and Switzerland.

Eventually, researchers learned that patients like Max had different genetic mutations.

Shaikh said the research would have taken several more years had it not been for the willingness of people at NIH, McGill University Health Centre, Children’s and CU to share their data. And, Shaikh said, it helped that so many researchers were looking into similar questions, giving the team a mountain of data that they otherwise would not have had.

Shaikh said the long-term hope is that researchers can understand cblX enough to one day recognize it early and stop it before it can do serious harm. That could mean families meeting with genetic counselors to see if they are at risk, and maybe some in-utero treatments that could stop the disease.

Shaikh said he can’t make any promises, but he is certainly hopeful.

“The idea is that this finding in Max will potentially help families at some point,” he said.