The Children’s Mercy Research Institute is identifying genetic conditions using new technology that could have life-changing effects on children with rare diseases and their families, in Kansas City and across the country.
Kelly Ranalo knows best of all the difference this type of testing can make. About 20 years ago, her second daughter died at the age of five months due to a rare medical condition. Genetic technology at the time wasn’t able to diagnose this incurable condition, but she told The Star that a diagnosis would have shaped her family’s choices during her child’s short life.
“It may not have made a difference in her life outcome at the time, but it certainly would have made a difference in the way we spent those five months,” she said.
Families like Ranallos can now get answers about their children’s condition sooner because of new technology Mercy researchers are using to identify rare diseases.
This new technology, called 5-base genetic sequencing, has helped provide diagnoses to more than 1,000 patients and families in the two-and-a-half years since the research began.
“There are important results every time you find the answer,” said Dr. Tommy Bastinen, who is leading the sequencing effort at the hospital. A diagnosis can open treatment options, reveal information about family health risks and can lead to communication with others with rare diseases.
Bastinin told The Star that other health care organizations across the country are considering the progress here in Kansas City, and are looking to share the sequence data with the Children’s Mercy team to get answers for more families with rare, previously undiagnosed diseases.
The most advanced system in the world
Five and a half years after her devastating loss, Ranallo learned that her oldest daughter also suffers from a rare genetic condition – different from that of her youngest daughter.
Although the family had not found out about the eldest daughter’s condition for years, the diagnosis eventually made treatment possible. Her eldest daughter is now 24 years old.
This experience is not uncommon, Ranallo said. as head of rare KCis a nonprofit organization focused on serving people with rare diseases and their families, and has supported many families in the diagnosis process.
She added that the journeys toward diagnosing a rare disease can often take six to eight years of doctor appointments, research, and dead ends.
But as testing technology has improved over time, the process has become easier.
This children said mercy The new technology is “the world’s most advanced genetic sequencing system,” and it can get answers to patients faster and easier than was possible before.
“Today, they (initially) didn’t miss her diagnosis,” Ranallo said of her eldest daughter’s condition.
What types of diseases can this help with?
By definition, a rare disease affects fewer than 200,000 people. But there are thousands of different rare diseases that affect each other More than 25 million AmericansAccording to the National Organization for Rare Diseases.
Among the most common rare diseases diagnosed in Children’s Mercy NeurofibromatosisA condition that leads to the formation of tumors in the brain, spinal cord, and nerves. While these tumors are usually noncancerous, the diagnosis is important so that patients can be carefully monitored. The genetics laboratory found dozens of cases of this condition in children’s mercy patients.
The sequencing also revealed individual cases of rare diseases such as Rofman syndromeIt is a condition that causes developmental defects and intellectual disability. The National Institutes of Health estimates that fewer than 1,000 people in the United States have this condition.
To date, researchers at Children’s Mercy have identified about 350 rare diseases in just over 1,000 patients. In some cases, patients received two or even three diagnoses for different conditions based on their genetic sequence.
In an effort to help expand genetic research across the country, the hospital is also launching a first-of-its-kind database of gene sequences associated with unknown medical conditions. It plans to share the data with other health organizations such as the National Institutes of Health (NIH) to help identify genetic causes of extremely rare diseases.
How does this new technology work?
The genetic code is written using four letters: A, C, G, and T. This code identifies the genes in people’s DNA that control things like hair color, eye color, and the likelihood of developing certain health conditions. You may remember learning about these letters in biology class.
But there is a twist: the base “C” can have two different shapes. The reason it’s so complex, but important is that these two different types of C give scientists five rules to look at instead of the regular four. This makes the sequences more specific, and makes it easier to match patients’ genetic code to known cases of extremely rare diseases.
The five-base sequencing technology was developed by a California-based company called Pacific sciences. Children’s Mercy has been with the company for about two and a half years, and is one of the first hospitals in the country to apply its science to real patient outcomes.
Could this kind of sequencing cure rare diseases?
not yet. Gene sequencing can help scientists identify rare diseases already known to patients, and some of these conditions can be treated with gene therapy or other interventions such as surgery or dietary changes.
However, many genetic abnormalities have not yet been classified. That’s why Mercy for Children is sequencing 30,000 genomes of people with rare or unknown conditions and their families. By safely sharing this data within the medical community, Bastinen hopes that researchers will begin to find similarities between patients and begin to identify the genetic causes of unknown diseases.
“One of our hopes is that this five-day sequence will bridge that gap between excitement and clinical execution,” he told The Star. “We want to begin to interpret more of the genome…and bring it back to the potential medical importance of patients and families.”
Can genetic testing help someone you know?
Children Mercy and Rare KC are working to get the word out about genetic testing — but the lack of knowledge about rare diseases and the ways sequencing can help identify them has been a challenge.
“We think only a small subset of children who need genetic evaluation get it today,” Bastinin said.
Most patients are referred to the program by physicians or specialists after other attempts to determine their condition have failed. Because many genetic diseases begin to show symptoms during infancy and childhood, the hospital has focused its sequencing efforts on children — but some adults with lifelong unexplained conditions have enrolled in the program, too.
Learn more about requesting an appointment at The hospital genetics clinic is here.
“Many families struggle with their providers not necessarily believing something is wrong and not referring them to our specialists here,” Bastinen said. “One of our future goals is to increase access to genetic medicine and bring it closer to the front lines, bringing it closer to underserved populations and primary care offices.”
He added that access to rural hospitals and clinics was particularly important. Babies with rare diseases don’t always need to actually visit the Children’s Mercy website to receive this test — some can simply give a blood sample at their local clinic and send it to Kansas City for sequencing.
Ranallo said her group is educating clinicians across the country about genetics and making them aware of sequencing options.
“You will never be an expert on the nearly 9,000 specific rare diseases that grow every day,” her group said to medical students and other healthcare providers. “You just have to be willing to be humble to say, ‘I don’t know, but let me find you your next step. “
Have more questions about health and wellness in Kansas City? Ask the Service Journalism Team at firstname.lastname@example.org