Raise the Line

We continue our Year of the Zebra focus on rare diseases today by exploring the ability of AI technology to aid in the diagnosis of rare and other conditions by analyzing the voice and speech of the patient. This approach is promising enough that the National Institutes of Health has invested in research projects to test its effectiveness, and the private sector is pursuing it as well, including the company Canary Speech whose technology can be trained to detect conditions that are traditionally difficult to identify, or those where early identification is crucial to treatment. “With just seconds of conversational speech, we can screen for multiple behavioral and cognitive conditions,” says Caitlyn Brooksby, Canary's vice president of Marketing and Strategic Partnership. One prime example she offers is a study on Huntington’s disease done in collaboration with Beth Israel Deaconess Medical Center in which more than a thousand features of speech were identified differentiating healthy patients from those with the disease. “Every ten seconds, we're looking at millions of data points, but we don't look at the words you say. We're looking at biomarkers within speech such as duration per word, word-per-second, bandwidth and contrast. It's really incredible what we can gather from speech alone,” she explains. Canary is in the second iteration of its Huntington’s model which is showing accuracy rates of 90% and above, and it recently added mild cognitive impairment, Alzheimer's, and Parkinson's disease to its offerings. Join host Lindsey Smith on this episode of Raise the Line to learn more about this promising approach to diagnosis.

Mentioned in this episode:
Canary Speech

Diagnosing Post-Acute Infection Syndromes: Special Series from The Cohen Center for Recovery from Complex Chronic Illnesses at Mount Sinai

“Tick-borne illnesses are incredibly stealthy and complicated and if I wasn't living and breathing it every day and seeing the intensity of these symptoms in patients, I would never believe it,” says Shannon Delaney, a psychiatrist in private practice in New York City. The complexity of such illnesses and the symptoms they cause is a key reason it can often take years to reach a diagnosis, which is the focus of this episode of Raise the Line, part of a special series on post-acute infection syndromes that Osmosis from Elsevier has created in partnership with the Cohen Center for Recovery from Complex Chronic Illnesses (CoRE) at the Icahn School of Medicine at Mount Sinai Hospital. In addition to Dr. Delaney, host Dr. Raven Baxter of CoRE welcomes Dr. Amy Kontorovich, an associate professor in Cardiology and Genomic Medicine at the Icahn School and Dr. David Putrino, director of Rehabilitation Innovation at Mount Sinai, to explore the limitations of current diagnostic tools and protocols and what changes are needed to improve patient care. Key themes include developing better tests for pathogens and educating providers to listen more carefully to patients. “In a typical medical encounter, the biggest dropped ball is completely disregarding an acute infection in the medical history,” stresses Putrino. All agree that providers need to be more comfortable with uncertainty and resist the urge to develop treatment plans that don’t address root causes. “If more doctors could just say, ‘I don't know’ I think it would do a great service to patients," adds Kontorovich. This is a candid and enlightening discussion about the importance of developing a collaborative, patient-centered mindset to provide the best care for those suffering with a range of post-acute infection syndromes.

Mentioned in this episode:

Mount Sinai Health System

Steven & Alexandra Cohen Foundation

Why do patients with long COVID have such a wide array of symptoms affecting so many bodily systems? That bedeviling question is the focus of this episode of Raise the Line featuring Dr. Resia Pretorius, head of the Department of Physiological Sciences at Stellenbosch University in South Africa and a renowned researcher in coagulation. “The underlying concept of what is happening, in our minds, is that long COVID is a widespread vascular endotheliitis, which is driven by the presence of all sorts of inflammatory molecules in circulation,” she tells host Dr. Raven Baxter of the Cohen Center for Recovery from Complex Chronic Illnesses (CoRE). Because endothelial cells line blood vessels that travel to every part of the body, their impairment produces a range of symptoms. Dr. Pretorius and her research colleagues have discovered that “microclots” – abnormal proteins that prevent clots from breaking down – are another ingredient in the long COVID recipe due to their possible role in reducing oxygen flow to the brain and other organs. Because of their unusual structure, microclots are not detected by customary blood tests, leading Dr. Pretorius to add her voice to the chorus of stakeholders calling for the development of new diagnostic tests and additional treatments. “We need a concerted effort for trials. We need FDA approval for the laboratory test that we developed. I’m confident we will get it done, but it will take time, which is sad.” Tune in to learn about the possible causes of microclots, promising research on anticoagulation therapy and why long COVID is not a “checklist” disease, as our special series on post-acute infection syndromes continues.

Mentioned in this episode:

Mount Sinai Health System

Steven & Alexandra Cohen Foundation

Today’s Raise the Line guest has a simple but powerful message for medical providers, born of a mother’s heartbreak. “It's going to be rare in your career to meet a zebra but the impact you can have is phenomenal. An early diagnosis could make the difference between life and death for these children,” says Bethan Keall who lost her young daughter Matilda (Tilly) in 2022 to neuroblastoma, a rare cancer most commonly found in children. Because some symptoms of the disease can be easily attributed to other causes, early diagnosis is difficult, particularly if providers are not on the lookout for it. Tilly’s diagnosis of an aggressive form of neuroblastoma introduced Bethan and her husband to the unfortunate realities of a lack of funding and coordination in the UK around pediatric oncology. “For childhood cancer you really need as much collaboration among doctors as possible to understand how treatments can get better because there are relatively few cases,” she explains to host Lindsey Smith. In coping with Tilly’s tragic death at the age of four, her parents have dedicated themselves to Neuroblastoma UK to support research efforts and have benefitted from the emotional and social support provided by a charity called Jak’s Den, founded by the family of a victim of childhood cancer. This is a wrenching, illuminating episode in our Year of the Zebra series offering important insights from a parent’s perspective for providers and policymakers alike.

Mentioned in this episode:
Jak’s Den https://www.teamjak.org.uk/
Neuroblastoma UK https://www.neuroblastoma.org.uk/

Last year’s declaration by the U.S Surgeon General that loneliness and isolation are a public health crisis was based on research showing that they have a negative impact on mental health, blood pressure, cognitive performance and, most relevant to our discussion today on Raise the Line, immune system function. That’s why it’s important for people dealing with chronic illnesses to stay socially connected at whatever level they are capable of, says our guest Dr. Rose Perry, a neuroscientist and executive director of an applied research non-profit called Social Creatures. “When your symptoms aren't good, being isolated can be like throwing gasoline on the fire. I don't think lack of social connection is a cause of chronic illness, it's really about setting conditions that make healing maximally possible,” she says. At Social Creatures, Dr. Perry and her team create programs designed to help populations at risk for social isolation feel like they are connected and supported. As she explains to host Raven Baxter of the Cohen Center for Recovery from Complex Chronic Illnesses at Mount Sinai, providers should be aware of programs like hers and affinity groups (e.g. knitting clubs) in their locality and engage in “social prescribing” as part of a treatment plan. “A lot of doctors will develop a resource list so they can pull it up and then kind of matchmake their patient with an organization.” Don’t miss this final episode in our special series on Post-Acute Infection Syndromes where you’ll hear about practical strategies providers can use to help address an often overlooked factor in someone’s ability to be as healthy as possible.

Mentioned in this episode:

Mount Sinai Health System

Steven & Alexandra Cohen Foundation