Skip to content Skip to navigation

NIH Establishes Down Syndrome Patient Registry

October 26, 2012
by Gabriel Perna
| Reprints

The National Institutes of Health, in partnership with a third-party vendor, PatientCrossroads, has established a Down syndrome patient registry which will aim to assemble contacts and information sharing among families, patients, researchers and parent groups. According to a press release announcing the new registry, it will allow people with Down syndrome or their family members to enter their contact information and health history in what the institute says is an online, secure, confidential database.

Those who participant in the database registry can customize a profile, update it, and choose which information they would like to display, including reminders about their own medical care and general information about Down syndrome. It will also allow for confidential comparisons to others with Down syndrome. Researchers will also have access to the database, and be able to contact willing participants in possible research studies.

The goal of the registry is to make it easier for patients to take part in clinical studies for new medications and other treatments for Down syndrome.The contract goes through the entire creation of the registry to September 2013, and is worth $300,000 in funding for its first year.

"The new registry provides an important resource to individuals with Down syndrome and their families," Yvonne T. Maddox, M.D., deputy director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), said in a statement. "The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research."

Topics

News

Study: App Developed for Inpatient Rounding, Handoffs Improves Note Taking and Patient Care

August 30, 2016
A smartphone app built as an inpatient rounding and handoff tool was quickly adopted by clinicians and facilitated real-time data entry, according to a recent study.

ONC Announces Blockchain Health IT Challenge Winners

August 30, 2016
The Office of the National Coordinator for Health Information Technology (ONC) has announced the winners of its “Use of Blockchain in Health IT and Health-related Research Challenge.”

AMA Launches Enhanced Geospatial Mapping Tool Identifying Underserved Patient Care Areas

August 30, 2016
The American Medical Association (AMA) this week unveiled enhancements to its Health Workforce Mapper, an interactive mapping tool that can help healthcare providers identify underserved patient care areas.

Indiana Medical Clinic and Long Beach Health Plan Report Data Security Incidents

August 29, 2016
Orleans Medical Clinic located in southern Indiana reported that it was recently the victim of a hacking incident of its network server resulting in inappropriate access to the protected health information about 6,800 patients.

Study: Integrating Mental and Physical Healthcare Services Leads to Better Outcomes, Lower Costs

August 29, 2016
Patients receiving healthcare services in team-based practices that integrated mental and physical healthcare services used fewer healthcare services, had lower total costs and better clinical outcomes, according to an Intermountain Healthcare study.

Report: Despite Widespread Usage, Docs Relatively Dissatisfied with EHRs

August 29, 2016
Very few physicians these days operate their practices without an electronic health record (EHR), but satisfaction levels with the technology have dropped some, according to Medscape’s EHR Report 2016.

athenahealth Acquires Care Coordination Platform Patient IO

August 29, 2016
athenahealth has acquired Austin-based care coordination platform Patient IO (officially known as Filament Labs, Inc.) and the mobile solution will form the basis for athenahealth’s patient-facing mobile app, athenaWell.

Muddy Waters Report: St. Jude Medical’s Cardiac Devices Vulnerable to Cyber Attacks

August 29, 2016
St. Jude Medical, a Minnesota-based global medical device manufacturer, saw its shares drop last week after a Muddy Waters Capital report noted demonstrations of cyber attacks to two of the company’s cardiac devices.

OCHIN Offers Data Aggregation System

August 28, 2016
OCHIN, an Oregon-based nonprofit health IT services organization, has launched a real-time data aggregation system that it says allows healthcare organizations to enhance care delivery and improve business operations.

Global Healthcare IT Solutions Market Worth $228 Billion by 2020, Report Says

August 26, 2016
The global healthcare IT solutions market will be worth $228.79 billion by 2020, growing at a compound annual growth rate of 13.4 percent, according to a forecast by India-based market research firm MarketsandMarkets.

MaineHealth Taps Marcy Dunn as CIO

August 26, 2016
Portland-based MaineHealth has hired Marcy Dunn, currently of Catholic Health Services of Long Island, as its new CIO and senior vice president.

What Risk Do Privileged Users Pose to Healthcare Data Security?

August 26, 2016
Employees with the most access to high value information assets continue to be a serious insider risk, according to a Ponemon Institute study, and healthcare organizations need to ensure their governance processes decrease the risk of privileged user abuse.

Nashville Could Become Next Major Health IT Hub, Report Finds

August 25, 2016
Nashville, Tenn. very well could become the next big health IT “hub” in the U.S., according to a new analysis from the Brookings Institution’s Metropolitan Policy Program.

Health Systems, Public Health Agencies Dedicate Resources to Zika Control and Treatment

August 25, 2016
As the number of patients with Zika virus grows—2,260 confirmed cases in the U.S. according to the CDC—Baltimore-based Johns Hopkins Medicine has opened a multidisciplinary Zika virus center with resources dedicated to caring for patients with the virus.

Mount Sinai Establishes Pathology Center with Focus on Machine Learning

August 25, 2016
Mount Sinai’s Department of Pathology at the Icahn School of Medicine has established the Center for Computational and Systems Pathology, with the goal to more accurately classify diseases and guide treatment using computer vision and machine learning techniques.

Pages