Artificial intelligence seen as critical tool in helping to diagnose rare diseases

Machine learning algorithms could make a dramatic difference when it comes to diagnosing children with rare diseases, two CHOC Children’s doctors said in a recent webinar.

Although the use of artificial intelligence (AI) in diagnosing medical conditions is in its infancy stages, the potential is huge, said Dr. Jose Abdenur and Dr. Terence Sanger, speaking on a panel during a two-week summit on rare diseases hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

“Human decision making is very, very good,” said Dr. Sanger, vice president for research and chief scientific officer at CHOC. “But we’re not very good at incorporating tens of thousands of pieces of information into making these decisions.”

That’s where machine learning could be of immense value, he and Dr. Abdenur said in the one-hour discussion on Sept. 22, which can be viewed in its entirety here.

Machine learning involves the use of computer algorithms that improve automatically by building mathematical models based on reams of data. This makes AI particularly valuable for improving the rare disease diagnosis process, which remains far from perfect, says Abdenur, chief of the division of metabolic disorders at CHOC and director of CHOC’s metabolic laboratory.

Although great strides are being made in diagnosing rare diseases through such processes as rapid whole genome sequencing, 40 percent of families with sick children still do not have diagnoses, Dr. Abdenur said.

“We’re doing better, but we’re definitely not good enough,” he said. “We hope in the future that artificial intelligence and machine learning will help us (reach diagnoses faster).”

In diagnosing patients, clinicians consider a list of possible conditions or diseases that could be causing symptoms – what’s known as making a differential diagnosis. They consider such things as a patient’s symptoms, his or her medical history, basic lab results, and a physical examination.

With AI, a virtually limitless amount of information beyond that – such as similar symptoms that have occurred in patients around the world, the environment they live in, etc. – could be factored into helping make differential diagnoses.

Dr. Sanger compared the benefits of using AI in diagnosing patients to a standard camera – what’s used now – to a wide-angel lens that can take in much more information, which machine learning would provide.

“If you have an avalanche of information, (physicians) can’t take all of it in themselves,” Dr. Abdenur noted.

But a sophisticated machine-learning program could, he and other panelists said.

An algorithm that gets smarter over time would lead to faster, simpler, accurate, and earlier diagnoses, said panel member Annastasiah Mhaka, co-founder of the Alliance for AI in Healthcare.

“Data is at the heart of (learning more about rare childhood diseases), and AI would help along every step of the way,” said another panelist, Sebastien Lefebvre, an analyst with Alexion Pharmaceuticals.

Both Dr. Abdenur and Dr. Sanger agreed that AI could be used to augment a clinician’s decision, but never replace it.

“(AI) never makes a decision for you,” Sanger said. “It just assists in the decision making.”

Newly emerging technologies such as machine learning in healthcare could lead to lower healthcare costs and better treatment, Mhaka said.

“Diagnosis needs are huge and unmet in the (rare disease) population,” she noted.

Learn more about rare disease research at CHOC.

CHOC earns $1 million grant to advance rare disease genome-editing therapy

With an aim of addressing a critical and unmet need in rare disease research, CHOC Children’s will advance rare disease genome editing therapeutics, thanks to a $1 million grant from The Larry and Helen Hoag Foundation.

The funding will help form CHOC Children’s Center for Advancing Rare disease Editing (CARE), allowing researchers to further their work to use genome editing to rapidly generate, characterize and treat preclinical models of rare disorders with known pathogenic mutations.

Genome editing therapy has the potential to permanently correct underlying pathogenic mutations in patients with some rare diseases. This treatment addresses the root cause of the disorder, eliminating the need for more standard therapies like enzyme replacement and stem cell transplantation that often require repeated treatments.

“CHOC is at the forefront of operating at the interface of translational research and clinical care of rare disorders,” said Brent Dethlefs, executive director of the CHOC Children’s Research Institute. “Our ultimate goal is to provide patients with rare diseases with an objective, rigorous assessment of whether genome editing therapy has the potential to advance their current standard of care.”

The work will build upon CHOC’s existing successes in developing preclinical models of rare diseases. For example, CHOC’s lysosomal storage disorders research team has already generated the first preclinical models of Pompe disease – a rare and fatal disorder that affects the heart and muscles – that are suitable for genome editing therapy and exhibit molecular, biochemical and functional analogy to patients with the severe infantile-onset form of the disease.

“Given the success of this project, we have received multiple inquiries from research colleagues seeking to collaborate and patient advocacy groups hoping to generate additional preclinical models of rare disease, but until now, we’ve never had the resources to participate,” CHOC scientist Dr. Jeffrey Huang said. “We believe that CARE has the potential for rapid growth given the intrinsic scalability of genome editing as a strategy to generate preclinical models and develop novel therapeutics.”

The Hoag Foundation funding complements a grant CARE recently received from the CHOC Children’s Foundation’s One Wish Grants awards. The grant awards unrestricted funds to outstanding ideas that drive advancement toward CHOC’s strategic goals.

The mission of The Larry and Helen Hoag Foundation is to educate, empower and create greater opportunity for at-risk children to become independent, productive and contributing members of society; support medical research and technology to enhance the health and well-being of children; and support such other compelling purposes that will enhance the quality of life for residents in Southern California.

Learn more about the CHOC Children’s Research Institute.