The Scientist - May 2018 (gnv64)

English | True PDF | 72 Pages | 13.8 mb

FEATURES
24 Answers in the Exome
Researchers, clinicians, and families make the most of gene sequencing data to transform the way rare and mysterious diseases are diagnosed. BY AMANDA B. KEENER
30 Rare Funding
While orphan drugs have become incredibly successful within the pharmaceutical industry, many academic researchers who work on rare diseases still struggle for monetary support. BY DIANA KWON
38 Crowdfunding for a Cure
Families of children with rare disorders bolster gene therapy research. BY THE SCIENTIST STAFF
Department Contents
10 FROM THE EDITOR Bullets and Ballots - Researching the rare disease of gun violence in America will take a concerted political effort. BY BOB GRANT
12 FREEZE FRAME Selected Images of the Day from the-scientist.com
15 NOTEBOOK Attack of the Clones; The Key to Crowdfunding; I, Robot Surgeon; The Sight of Blood
22 MODUS OPERANDI Mitochondrial Isolation System A transgenic approach allows researchers to collect the organelles
from specific cells in nematodes with unprecedented efficiency. BY RUTH WILLIAMS
23 THE BASICS Rare Disease: By the Numbers A statistical look at uncommon maladies BY JIM DALEY
46 THE LITERATURE A new facet of neuromuscular coordination; geneological proteomics unearths an unexpected connection; a 3-D view of gene variation
48 PROFILE Decoding Rarities - Uta Francke has spent her career linking genes to uncommon pediatric disorders, advancing the field of molecular diagnostics along the way. BY ANNA AZVOLINSKY
51 SCIENTIST TO WATCH Valerie Arboleda: Data Miner BY SHAWNA WILLIAMS
52 LAB TOOLS Sorting the Brain’s Signals - A tour of computer programs that swiftly sift through terabytes of neuron activity data BY ASHLEY YEAGER
55 CAREERS The TelePostdoc - Family constraints and communications technology are making remote research positions more popular, but there are costs, scientists say. BY ASHLEY YEAGER
59 READING FRAMES Rare to the Rescue - Rarity becomes a strength when lessons from rare-disease patients are applied to more common diseases. BY VICTORIA JACKSON AND MICHAEL YEAMAN
68 FOUNDATIONS Among the Amish, c. 1960s BY DIANA KWON
IN EVERY ISSUE
9 CONTRIBUTORS
11 SPEAKING OF SCIENCE
60 THE GUIDE
62 RECRUITMENT