Stories about: citizen science

When your child isn’t just rare, but probably one of a kind

Savoie at home with 4-year-old Esmé in New York.
Savoie at home with 4-year-old Esmé in New York.

Hillary Savoie, PhD, founder and director of The Cute Syndrome Foundation, is author of Around And Into The Unknown, chronicling her family’s journey to find a diagnosis for Esmé, and Whoosh, about coming to terms with Esmé’s early medical complications.

I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.

But my daughter is also unusual in a more scientific way: in her genes. 

Read Full Story | Leave a Comment

Power to the people: Citizen science meets precision medicine for rare disease

At this recent GoldLab Symposium presentation in Colorado, parent Matt Might shows how it’s done.

People credit rapid next-generation gene sequencing for the increased pace of medical discovery. But patients and their families—especially those with rare or undiagnosed conditions—are emerging as the true engines of precision medicine. Racing against the clock to save their children, parents are building databanks, connecting scientific dots and fueling therapeutic advances that could otherwise take a decade or more to happen.

“There’s a culture shift,” said Isaac Kohane, MD, PhD, chair of Harvard Medical School’s Department of Biomedical Informatics (DBMI), which hosted a conference titled Precision Medicine 2015: Patient Driven in late June. “A culture shift where patients feel empowered morally and intellectually to lead in precision medicine research and delivery.”

Read Full Story | Leave a Comment

Advancing clinical trials for Niemann-Pick type C: Sweet news for cyclodextrin

Febreze-Human Zoom-Creative CommonsOlaf Bodamer, MD, PhD, is associate chief of the Division of Genetics and Genomics at Boston Children’s Hospital and is launching a multidisciplinary clinic this spring for lysosomal storage diseases—including Niemann-Pick type C, sometimes referred to as “childhood Alzheimer’s.”

Niemann-Pick disease type C (NP-C) has come a long way since its first description as an entity in the 1960s. Part of a group of rare metabolic disorders known as lysosomal storage diseases, NP-C leaves children unable to break down cholesterol and other lipid molecules. These molecules accumulate in the liver, spleen and brain, causing progressive neurologic deterioration.

I still vividly remember when I diagnosed my first patient with this devastating disease, a 3-year-old boy who had global developmental delay, restricted eye movement, loss of motor coordination and loss of speech. I spent hours with the family, explaining what was known about NP-C. When faced with the question about treatability and outcome, I could barely find the right words, but had to acknowledge that the outcome was inevitably fatal and that there was no specific treatment other than supportive measures to treat his symptoms.

Read Full Story | Leave a Comment

Tapping crowds for science: From galaxies to diabetes

Photo: ausnahmezustand/Flickr

What do a project cataloging pictures of galaxies, an RNA folding game, and a call for people with diabetes to contribute data all have in common?

Each is part of a new revolution in science. Called “citizen science,” this revolution takes science out of traditional academic or industrial environments and into the population at large, asking the general public to take part in activities that further particular areas of research.

Citizen science projects tap the aggregate computing power of crowds to help collect or analyze huge data sets, running the gamut from online games (e.g., FoldIt, EteRNA) to screen savers that make use of your computer while it’s asleep (e.g., SETI@home) to projects asking people to count or categorize images from large-scale astronomy projects (e.g., GalaxyZoo, Stardust@home). Some even try to reduce animal-vehicle collisions on the nation’s roadways by cataloging and mapping roadkill.

Read Full Story | 1 Comment | Leave a Comment