Digital Dysmorphology - Early Detection of Genetic Syndromes

Unmet Clinical Need

Each year, one in every 691 babies in the United States is born with Down syndrome. In some regions of the world, the rate is as high as one in 350. Children with the disorder have a high incidence of serious medical complications and intellectual disability that require treatment and usually surgery. Genetic disorders account for 12 percent of all hospital admissions and 20-30 percent of infant deaths. Because of these related complications, it's critical that doctors detect Down syndrome as early as possible. Pre-natal screening, when available, has an accuracy rate as low as 79 percent. Pediatricians detect Down syndrome in newborns with an accuracy rate as low as 50-60 percent.

While the number of patients with genetic syndromes increases worldwide, the number of geneticists remains flat. Thus, current dysmorphology services are often overwhelmed and inefficient, leaving many newborns with genetic syndromes without adequate clinical care. While access to specialized clinics remains limited, genetic tests and medical costs are very expensive, and significant emotional stress to patients and families occurs for every false positive case evaluated in the clinic.

Therefore, there is a need for a non-invasive, accurate and affordable screening tool for genetic diseases, such as Down syndrome, to diagnose early and remotely, reduce time and expense, and guide and enhance the clinical management of patients.

Technology

Our team has developed a new software that can assess a child immediately after he or she is born, without the need for blood tests or specialized analysis. This simple and non-invasive test uses sophisticated automated facial recognition as a screening tool and can make the detection of Down syndrome as easy as a snapshot. A local nurse or doctor will upload a photo of the child's face and be told immediately if a child has Down syndrome. All this could be done remotely via the Internet today and soon through smartphone applications, which will bring the expertise of specially trained doctors to remote areas for a fraction of the cost of modern tests. Children identified with Down syndrome can then be referred to expert geneticists for follow up and comprehensive clinical care.

The accuracy of our system to detect Down syndrome is already 96 percent; other genetic syndromes can be detected in a similar way. These improvements in the current clinical management of genetic disorders, together with lower clinical costs, have a lifesaving potential especially for children whose condition is only subtly apparent in physical terms. Ultimately, this technology will make sophisticated genetic expertise widely and affordably available.

CLM Model

MGL

Market

This digital dysmorphology tool can be integrated into a mobile device and used as a screening/telemedicine tool for birthing centers and pediatric clinics.

Status

(Updated on 8/22/14)

  • High sensitivity/specificity with initial testing dataset
  • Currently conducting clinical study under IRB approval
  • Looking for commercialization partner

Researchers 

  • Marius George Linguraru, DPhil
  • Marshall Summar, MD
  • Kenneth Rosenbaum, MD

Contact

Patrick Cheng
Technology Commercialization Officer
pcheng@childrensnational.org
(202)-615-2794