What makes a new finding in biology circulate widely? An MIT economist knows: Make the original research materials accessible.

What lies untapped beneath the surface of published clinical trial analyses could rock the world of independent review. (About unpublished data)

Miso is an open source toolkit designed to expedite the creation of high-quality interactive storytelling and data visualisation content.

The first release under the Miso Project is Dataset, a JavaScript client-side data management and transformation library.

Miso is a set of libraries to be released over the coming months that simplify the processes of managing data, building reusable components, and authoring narratives. Miso is in active development, and will have components released as they are completed. Follow along: @TheMisoProject & Github

Style Tiles are a design deliverable consisting of fonts, colors and interface elements that communicate the essence of a visual brand for the web.

The UnitedHealthcare Children's Foundation is a 501(c)(3) non-profit charity dedicated to facilitating access to medical-related services that have the potential to significantly enhance either the clinical condition or the quality of life of the child and that are not fully covered by the available commercial health benefit plan. This “support” is in the form of a medical grant to be used for medical services not covered or not completely covered by commercial health benefit plans.

An online network for sufferers of inflammatory bowel disease suggests a new way of treating chronic disease, letting patients collaborate with doctors in collecting data and suggesting ideas for treating their condition.

State of Rare Diseases in India

This is a site for large data sets and the people who love them: the scrapers and crawlers who collect them, the academics and geeks who process them, the designers and artists who visualize them. It's a place where they can exchange tips and tricks, develop and share tools together, and begin to integrate their particular projects.

Great Project Manager Job Description

Startups frequently use surveys as a cheap and easy way to get feedback from users. But the resulting data will only be as good as the survey itself.

RAREhealth Exchange is an undergraduate collaborative that assists clinicians, patient services organizations and researchers to define natural histories of rare diseases.

We do this by helping assess and score rare disease patient medical records. Here is a link to our PLoS One paper on how undergraduate students can help with defining natural histories.

Natural histories are important because they define what a disease is. They are also used to determine whether experimental therapies are working. Rare disease patient medical records are an invaluable source of natural history but remain under-utilized due to insufficient resources.

Icon font for @font-face use.

It's not always easy to get access to your medical records - important info for rare disease patients.

RARE, a new feature documentary, follows an inspiring and extraordinary mother in a race against time as she unites a group of isolated people from around the world in a quest to cure her daughter’s rare genetic disease.

The Sibling Support Project is a national effort dedicated to the life-long concerns of brothers and sisters of people who have special health, developmental, or mental health concerns.

BioID provides a new versatile tool for researchers seeking to characterize how proteins participate in functional networks necessary for life

A family page for Jack Frost, a teenager with M-CM.
This site has a new Facebook page: https://www.facebook.com/jackthestorysofar

Eighty five percent of published papers remain locked behind subscription pay walls, accessible only to those affiliated with universities and other large research institutions. But new journals that make everything they publish freely available are growing rapidly. And government efforts to make the results of all publicly funded scientific and medical research accessible to everyone are expanding, despite industry-backed legislative efforts to end them.

Associate Clinical Professor of Pediatrics, Harvard Medical School
MassGeneral Hospital for Children
Genetics

Clinical Interests
Dysmorphology and syndrome delineation
Ras/MAPK syndromes: Costello, CFC & Noonan Syndromes
Branchio-oculo-facial syndrome (BOFS)
CHARGE syndrome
Turner syndrome
Genetic aspects of congenital heart defects (CHDs)

Locations
Boston: Massachusetts General Hospital

A font you can use in your web apps when you want tiny state shapes as a design element.

It's designed to be used at small sizes, and the shapes have been highly simplified to make for a really small font. All 50 states plus D.C. and a wee continental U.S. map fit in about 22k, and they look great on Retina displays.

At ProPublica we're using it in our super PAC tracker.

I became a cyborg lawyer with proprietary software connected to my heart

Using WireTap Studio, you can record the discrete audio output of any application, as well as all system audio, or record audio input from any microphone, line-in, or audio input hardware.

Whether you're new to reporting traumatic news or simply feel you’ve more to learn about such assignments, these tips, drawn from journalists, journalism researchers and health professionals in Australia and around the world, can help you.

This family had located some 500 people with Moebius around the world and all of them heard for the first time that day that they could live a normal life span.

My employment with Patch started with a handshake and a promise that I would be called with a job offer in the next few days. I had met with Patch’s editor in chief, Brian Farnham, at the company’s New York headquarters. This was in late October 2009, just a few months after AOL acquired the nascent hyperlocal platform for $7 million. In less than a week, I was hired to build and manage the Tarrytown-Sleepy Hollow Patch, covering a pair of Hudson River towns north of New York City.

To better assess performance in converting scientific discoveries to human therapies, research organizations need to articulate clear goals and establish specific measures to gauge their progress. Without such a performance-assessment system, grant makers do not have a good way to determine which organizations should get more grants in applied medical research. We could spend literally billions of dollars and make very little headway toward new patient therapies.

Here are the seven key questions grant makers should ask about the performance of organizations trying to apply medical research.

The rapid emergence of whole-genome and whole-exome sequencing of research participants has helped to revive the debate about whether genetic and other ‘omic’ data should be returned to research participants, and if so, which data, under what circumstances and by whom. While partial disclosure of such data has been justified in cases where participants’ lives and health are threatened, full disclosure appears to remain beyond the pale for most researchers and bioethicists. I argue that it should not be and that the objections to full disclosure short-sightedly favor near-term considerations over long-term benefits. Return of genomic data to those who want it, even if a difficult undertaking and even if the meaning of the data is unclear, engages participants in science and the research enterprise, and positions them to be better stewards of their own health and wellbeing.

Advocates and opponents of “open access” for government-financed scientific research are girding for a long battle before Congress, which has little enthusiasm for either extreme.

Database of medical images

27 "Friends of Frances" ran a half marathon on Sunday to raise awareness for M-CM and other rare diseases.

Information about IH, Chiari and Hydrocephalus -- this site has interesting information about elevated pressure in the brain.

This page shows GoodSearch and GoodShop earnings for the M-CM Network, could be used to encourage people to use these -- installing the GoodToolbar makes it easy.

Article ends with:

Patients might not know it yet, but they actually have the real power, Friend believes. Sage is developing tools to allow patients to be stewards of their own data, whether it's at their doctors' office or in pharma's hands. The Josh Sommerses of the world will one day be able to say, you want me to join your research? Then share your data.

If patients refuse to play with the nonsharers . . . it's a whole new world.

I’m an historian, writer, patient advocate, and mother. I guess I do whatever feels really important yet maybe doable. Some of that is humanities-based scholarship centered on science and medicine, and some of my scholarship gets called “investigative.” I write a lot of essays about real life, and I often provide service to individuals in need, whether they be reformist clinicians, struggling parents, patient advocacy groups, or adults with traumatic histories.

A touching account of a photographer considering how we see children with genetic differences.

Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. This year it is on February 29th. Here is a list of US events by state.

ReelAbilities Film Festival is dedicated to promoting awareness and appreciation of the lives, stories and artistic expressions of people with different disabilities.

Merck paid an undisclosed sum to Elsevier to produce several volumes of a publication that had the look of a peer-reviewed medical journal, but contained only reprinted or summarized articles--most of which presented data favorable to Merck products--that appeared to act solely as marketing tools with no disclosure of company sponsorship.

a lesson in using Python to access the Twitter API

Do you have any say over what’s in your medical records? Not really. The Health Insurance Portability and Accountability Act of 1996 gave patients the right to order copies of their medical records and enabled them to see the originals in the doctor’s office under most circumstances. It did not, however, give patients ownership of those records—your doctor or the hospital owns the file. You can try to persuade your physician not to write something in your chart, but the decision is ultimately hers, subject to legal requirements like the one included in the Virginia Senate bill.