Two new developments offer glimmers of hope to patients with rare, hard-to-diagnose conditions—validation of the power of crowd sourcing and the prospect of bringing cognitive computing to rare disease diagnosis. Both developments were announced at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards (#PedInno15).
The crowd-sourcing challenge, CLARITY Undiagnosed, yesterday announced the findings of 21 teams that competed from seven countries. The winning team, Nationwide Children’s Hospital (Columbus, OH), was awarded $25,000. Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA) were named runners-up.
Each team received DNA sequences and clinical data from five families whose illnesses had eluded many prior diagnostic attempts—in some cases, even prior genomic sequencing.
Affordable home dialysis, a device to triage heart murmurs, a cardiopulmonary support enhancer, a novel technology to treat septic shock and a better system for studying neurological function. Which of these ideas will catch fire?
Epileptologist Tobias Loddenkemper, MD, director of clinical epilepsy research at Boston Children’s Hospital, is a seizure whisperer. He keeps a close watch on his patients, trying to discern seizure patterns and head off the developmental and learning problems that seizures can cause. A pioneer in the emerging field of chronoepileptology, he has partnered with Empatica and other companies to develop reliable seizure detection devices that could help doctors better time medication dosing and help prevent death from seizures, a real risk in children with severe epilepsy.
Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.
Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.) …
Some 7,500 rare disorders are known to be caused by single-gene mutations. Most of these disorders first appear at birth or in childhood, and for about half, the responsible gene has been identified. Yet, on average, families with rare disorders spend 12 years searching before getting a correct diagnosis.
Jackie Smith, a 35-year-old mother of two, searched for 32 years for the cause of her muscular weakness. Her parents knew something was wrong soon after she was born. At first, because her ankles turned in, they thought she was bow-legged. …
The CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.
In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:
the methods used to analyze and interpret the sequence data
the ability to synthesize the information
clinical usefulness, care recommendations and “next steps.”
I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.
But my daughter is also unusual in a more scientific way: in her genes.…
Tests for detecting Ebola in the blood can take anywhere from 12 hours to four days to yield results. But a recent study published in The Lancet reveals that a new point-of-care test can accurately determine results in mere minutes—another step toward potentially controlling the spread of Ebola.
Nira Pollock, MD, PhD, senior author of the paper and associate medical director of the Infectious Diseases Diagnostic Laboratory at Boston Children’s Hospital, along with researchers from Harvard Medical School and Partners In Health, showed that a commercially developed rapid diagnostic test (RDT), called the Corgenix ReEBOV Antigen Rapid Test kit, was as sensitive as a conventional laboratory-based method used for clinical testing during the recent outbreak in Sierra Leone. …
Second in a two-part series on metabolic liver disease. Read part 1.
According to the American Liver Foundation, about 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency, can fly under the radar until it becomes life-threatening, often requiring a liver transplant. LAL deficiency currently has no specific treatment, but that may change thanks to combined expertise in genetics, metabolism and hepatology.
“LAL deficiency is currently under-diagnosed,” Neilan says. “We think the disease is more common than doctors have thought and now, with a treatment in trial, it is of greater importance to identify those patients so they may have better outcomes.” …
Some great inventions were on view this week at the second annual Boston Children’s Hospital Innovators Showcase. Hosted by the hospital’s Innovation Acceleration Program and Technology & Innovation Development Office, the event featured everything from virtual reality goggles with gesture control to biomedical technologies. Below are a few new projects that caught Vector’s eye (expect to hear more about them in the coming months), a kid-friendly interview about the SimLab and list of inventions kids themselves would like to see. (Photos by Katherine Cohen except as noted) …