Help Doctors Detect Down Syndrome with a Simple Photo

However, access to modern genetic testing is limited by geography, cost, and physician access. When a child is born and a doctor suspects the diagnosis might be Down syndrome, testing can take several days or weeks. In remote areas, testing may not be available at all. Even when testing is available, blood analysis of chromosomes is expensive.
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The Solution

The team at Children's National is creating a new software program 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 provide almost instant results.

A local doctor could upload a photo of the child's face to the software program and be told immediately if a child has Down syndrome. All this can be done remotely via the Internet today and possibly someday through smartphone applications, which would bring the expertise of specially trained doctors to people around the world for a fraction of the cost of modern tests.

Ultimately, this software will do more than diagnose Down syndrome. This software will make sophisticated genetic expertise widely and affordably available.
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How You Can Help

Your donation will fund camera equipment, a study coordinator to enroll and photograph subjects, and a digital image analyst who will develop the software algorithm necessary to diagnose Down syndrome with accuracy. These efforts will improve the lives of children with Down syndrome.

The project funding is overseen by two senior-level investigators at Children's National Medical Center with dedicated time and research effort on the project as well as volunteer dysmorphologists and geneticists.
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Detailed Budget

Amount requested: $127,000

Use	Amount
1-6 months
Digital cameras—2 setups with 5 cameras each: 1 for neonates, 1 for older children	$400 x 2
Study coordinator for photo acquisition—part time	$7,500
Digital image analyst—full time	$26,000
Manufacture of frames for picture acquisition	$2,000
Software and development tools (Matlab toolbox, IEEE database, etc), materials	$2,000
Subtotal	$41,500
7-12 months
Study coordinator for photo acquisition—part time	$7,500
Digital image analyst—full time	$26,000
Subtotal	$33,500
13-18 months
Digital image analyst—full time	$26,000
Subtotal	$26,000
19-24 months
Digital image analyst—full time	$26,000
Subtotal	$26,000
Total	$127,000

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Milestones

Time	Aim	Task
1-6 months	Data acquisition and algorithm development	1. Manufacture the imaging frame and setup cameras
		2. Start image collection (both normal and abnormal cases)
		3. Database management
		4. Clinical assessment of data
		5. Develop the facial image analysis algorithm
7-12 months	Development of the first prototype of the computer- aided diagnosis system	1. Continue image collection (both normal and abnormal cases)
		2. Develop the computer-aided diagnosis system
		3. Testing and validation
		4. Clinical assessment of data
13-18 months	Clinical evaluation	1. Clinical validation of the computer-aided diagnosis tool
		2. Test and evaluate the software
		3. Incorporate feedback by clinicians
19-24 months	Extend outreach	1. Extend the system to remote diagnosis
		2. Testing and validation
		3. Dissemination of results

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Incentives

Donation	Incentive
Any sum	Receive quarterly research updates
$100 or more	Admission to online webinar by Dr. Marshall Summar
$500 or more	Name recognition as sponsor in materials for online seminar by Dr. Marshall Summar
$1,000 or more	"Circle of Hope" Name recognition as sponsor in materials for online seminar by Dr. Marshall Summar; Invitations to attend signature events to meet hospital physicians, researchers, and other leading donors
$2,500 or more	"Circle of Compassion" All Circle of Hope privileges, plus: Invitation to tour the Research Institute with project researchers
$5,000 or more	"Circle of Promise" All Circle of Compassion privileges, plus: Invitation to attend the Innovation Rounds lecture by project researchers
$10,000 or more	"Children's Circle of Care" All Circle of Promise privileges, plus: National recognition in the Children's Circle of Care annual report
Pledge of full $127,000	First page name recognition/acknowledgement as Supreme Funder, including recognition in software package material and personal tour through institute with researchers.

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The Researchers

Marius George Linguraru, PhD
Dr. Linguraru is a principal investigator in the Bioengineering Initiative of the Sheikh Zayed Institute for Pediatric Surgical Innovation. Within the Bioengineering Initiative, Dr. Linguraru leads the medical image analysis efforts and will develop tools for computer-aided diagnosis and modeling of anatomy and physiology in children. His work on pioneering imaging techniques has enhanced traditional medical imaging modalities and created modern clinical tools for radiology, oncology, and minimally invasive interventions.

Dr. Linguraru is internationally known for his work in radiology and medical image processing, particularly in harnessing software-based technology to enhance the clinical use of existing imaging tools. He joined the Sheikh Zayed Institute from the National Institutes of Health Clinical Center, Department of Radiology and Imaging Sciences. He maintains an appointment as a guest researcher within that center at NIH. Dr. Linguraru is currently a member-elect of the Technical Committee for Medical Imaging and Image Processing of the IEEE Engineering in Medicine and Biology Society. He completed his doctorate at the University of Oxford and holds two master's degrees from the University of Sibiu, Romania. He held postdoctoral fellowships at Harvard University and the French National Institute of Research in Informatics and Mathematics.

Marshall Summar, MD
Marshall Summar is the Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Medical Center. Dr. Summar's clinical work focuses on new and innovative ways to provide genetics services both nationally and internationally. He is also working on translational work with patients with Down syndrome and other conditions to inform other medical fields. Dr. Summar's laboratory research has focused on the study of inborn errors of metabolism particularly those in the urea cycle and Down syndrome. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Services Core at Children's National. His work has piloted treatments from the rare disease field to common conditions especially in the intensive care and emergency room setting. His work in the urea cycle has involved the development of treatment protocols, translational research, and basic molecular research into these rare defects in nitrogen metabolism. He is one of the 3 Principal Investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Current research projects involve clinical trials working to improve the outcomes of patients with congenital heart defects, acute lung injury, asthma, and premature infants using compounds from metabolic pathways he studies.

He served on the editorial board of The Journal of Pediatrics and is the president-elect for the Society of Inherited Metabolic Disease. He serves on the NIH study section for the CETT program, the National Human Genetic Research Institute Fellowship Training Program Board, and the NASA radiation research review panel. He is the chair of the Scientific and Medical Advisory Committee for the National Organization for Rare Diseases and serves on NORD's board of directors.
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