Rare Disease Day 2015: How Rare Disease is Shaping the Future of Healthcare

Today is Rare Disease Day 2015, an international advocacy day to focus on the daily lives of patients, families and caregivers who are living with a rare disease. Rare disease communities have been responsible for the reinvention of many aspects of our healthcare system are truly paving the way for precision medicine.

We Are All Zebras

Rare Disease Day 2015: Day-by-day, Hand-in-hand

Today is the eight annual Rare Disease Day, an international advocacy day held on the last day of February — a rare day for rare people. Rare Disease Day 2015 puts the focus on the daily lives of patients, families and caregivers who are living with a rare disease. This year’s slogan is “Day-by-day, hand-in-hand”, which emphasizes the need for international cooperation.

Rare Disease Day 2015

Brain Imaging in Children with Neurological Disorders Links Language Delay to Chromosome Deletion

A study team of radiologists and psychologists has found that children born with DNA copy number deletions in a specific region on chromosome 16 previously linked to neurodevelopmental problems show measurable delays in processing sound and language [1].

Child in a MEG machine

 

The Precision Medicine Initiative

In his State of the Union address last month, President Obama announced the Precision Medicine Initiative, a bold new research effort to revolutionize how we improve health and treat disease.

The Precision Medicine Initiative

HHS, NIH Take Steps to Enhance Transparency, Public Access to Clinical Trial Results

Last week, the U.S. Department of Health and Human Services (HHS) issued a Notice of Proposed Rulemaking (NPRM), which proposes regulations to implement reporting requirements for clinical trials that are subject to Title VIII (Clinical Trial Databases) of the Food and Drug Administration Amendments Act of 2007 (FDAAA). The proposed rule clarifies requirements to clinical researchers for registering clinical trials and submitting summary trial results information to ClinicalTrials.gov, a publicly accessible database operated by the National Library of Medicine, part of the National Institutes of Health. The NIH also announced a proposal to apply the proposed requirements to all NIH-funded clinical trials, whether subject to FDAAA or not. The proposed policy would require that all NIH-funded clinical trials be registered in ClinicalTrials.gov and that summary results be posted to the database in a timely matter. Both documents are open for a 90-day public comment period, and comments will be taken into consideration before final regulations and a final NIH Policy are issued.

ClinicalTrials gov