When it comes to analyzing rare disease, experience is key. For the majority of rare disease patients the wait for an accurate diagnosis often takes up to seven years. When these patients and their families arrive at Cincinnati Children’s they hope the long wait is finally coming to an end.

Since its opening in 1931, Cincinnati Children’s has been an important force in pediatric research with grant funding having more than tripled in the last 15 years. The hospital has partnered with countless rare and genetic disease foundations to improve understanding of these complex disorders and to pool resources for better patient care.

Dr. Robert Hopkin, one of Cincinnati’s leading geneticists, has been regularly challenged by how to narrow down the overwhelming array of patient cases that fall under the rare spectrum.  Approximately 1/3 of all patients seen at children’s hospitals have genetic disorders. With over 7,000 possible diagnoses and new genetic mutations being discovered all the time, it can often feel like pinpointing a specific disease is an insurmountable task.

In order to stay ahead of the curve, Cincinnati Children’s has reached out to doctors, researchers, biotech companies and patient organizations all across the globe to forge partnerships they believe will help break down the barriers separating patient cases and the available data needed to diagnose them.

In his most recent research, Dr. Hopkin collaborated with Boston-based FDNA to focus on developing a faster, more accurate approach of diagnosing PACS1 syndrome.  FDNA’s facial analysis software, Face2Gene helped to identify subtle physical presentations of the syndrome. This next-generation phenotyping (NGP) technology uses de-identified patient data collected by doctors and researchers across the globe for use in evaluating more than 10,000 diseases.

PACS1 is a gene that, until recently, was never associated with any specific human disease. However, after a paper published in the Netherlands proved otherwise, it has since been confirmed as an extremely rare genetic disease leading to approximately 30 identified cases globally.

Before recently diagnosing one of his patients with this disease, Hopkin experienced difficulty determining how the child’s unusual facial features as well as reduced mobility, motor and cognitive delays fit into the puzzle. Ultimately, he turned to sequencing the patient’s genes. There were thousands of variants that didn’t quite explain the condition. After sifting through all of the data, three unusual genetic variants were highlighted.

He told Front Line Genomics: “We looked at the patient’s PACS1 variant, and we saw that she had exactly the same gene variation as the two children previously published in the Netherlands. At that time the condition was not listed in any databases, the only thing we had was the initial paper.”

“The family of the patient posted her findings on Facebook to raise awareness. Along with those hits and other people who contacted the authors of the paper, we gathered together 20 cases. Another paper was written that included the data on all of those cases.”

Having dealt with the condition first hand, Hopkin approached FDNA at a genetics meeting to discuss the lack of confirmed data regarding the disease. With software that feeds on network growth, physician observations and experience, FDNA was keen to take on the challenge of a new and little-known condition such as PACS1.

“We made an effort to use machine learning to help identify the special facial features that are caused by different syndromes,” Hopkin said.

As reported in a recent press release by Cincinnati Children’s, through the collaboration and collection of syndrome data, Face2Gene can now successfully recognize and detect association between PACS1-related facial characteristics and other phenotypes and genes.

Dr. Hopkin told Front Line Genomics that to make the best decision about a child’s diagnosis; he needs to know as much about what is causing their symptoms as possible.

“The benefit of this software is that it helps to consider syndromes that are strong possibilities, that maybe we hadn’t factored into the equation,” he said.

Hopkin continued: “The doctor and the family can then do the testing to see if it is the right diagnosis; if they confirm this they can then see how other children have coped with the condition. They can look at the underlying genetic cause for the condition and think about possible metabolic pathways in the mechanisms. These will all help them to make a better decision for the care of the child.”

“If you can have a way for people to network and collaborate about these rare conditions, the information can be a lot more useful overall,” added Hopkin. “This can move the clinical management and characterization forward much faster; these tools are really a game changing addition to the toolkit we already use to take care of our patients.”

“What I’m looking forward to is being able to change the lives of patients and see the children grow up with more functional capacity.”

Cincinnati Children’s has proven that collaboration is a vital part of their leading the way in creating a world where patients with rare diseases can get the answers and support they need.