The Scientist 2018 05.pdf

(14567 KB) Pobierz
MAY 2018 | WWW.THE-SCIENTIST.COM
ECONOMICS OF
ORPHAN DRUGS
CROWDFUNDING
FOR GENE THERAPY
DIAGNOSIS THROUGH
EXOME SEQUENCING
A PEDIATRIC
SURGEON CALLS
ON BOTS
PLUS
RARE
DISEASES
THE REALITIES OF STUDYING
UNCOMMON CONDITIONS
NUMBER
ONE
FOR:
DEPENDABILITY
DATA INTEGRITY
EASE OF USE
No other name is as trusted as BioTek to bring you
affordability without compromising performance.
Learn more. Visit
www.biotek.com/readerwasher.
ISO certified and FDA registered for highest quality standards.
Be Sure About Your Targets
Open the potential of your pipeline with metabolism
Metabolic pathway dysregulation is observed in many different pathological states from
cancer to neurodegenerative diseases. This means if you’re not considering metabolism
in your target identification and validation studies, you’re missing part of the puzzle.
Agilent Seahorse XF technology and Luxcel MitoXpress and pH-Xtra assays analyze
metabolism in live cells in real time with a direct measure of cell metabolism so you can
validate that your targets are worth pursuing.
Learn more about Agilent’s cell analysis technologies at
www.agilent.com/chem/discoverXF
For Research Use Only.
Not for use in diagnostic procedures.
© Agilent Technologies, Inc. 2018
be
be
drive
drive
stay
stay
INSPIRED
INSPIRED
DISCOVERY
DISCOVERY
GENUINE
GENUINE
Monarch Nucleic Acid Purification Kits
Monarch Nucleic Acid Purification Kits
Now available for DNA & RNA
Now available for DNA & RNA
®
®
We’ve spread
We’ve spread
our wings.
our wings.
Designed with sustainability in mind, Monarch
®
Nucleic Acid
Designed with sustainability in mind, Monarch
®
Nucleic Acid
Purification Kits are the perfect complement to many molecular
Purification Kits are the perfect DNA & RNA many molecular
biology workflows. Available forcomplement to purification,
biology workflows. Available for DNA & RNAMonarch kits
with buffers and columns available separately, purification,
with buffers and columns available separately, Monarch kits
are optimized for excellent performance, convenience and value.
are optimized for excellent highly pure, intact DNA and RNA
Quickly and easily recover performance, convenience and value.
Quickly and easily recover highly
in minutes. Available kits include: pure, intact DNA and RNA
in minutes. Available kits include:
• Monarch Plasmid Miniprep Kit
• Monarch Plasmid Miniprep Kit
• Monarch DNA Gel Extraction Kit
• Monarch DNA & DNA Cleanup Kit (5 µg)
• Monarch PCR Gel Extraction Kit
• Monarch PCR & DNA Cleanup Kit (5 µg)
•
NEW
MONARCH TOTAL RNA MINIPREP KIT – optimized for use
•
NEW
MONARCH TOTAL RNA MINIPREP KIT – optimized for use
with a variety of sample types, including cells, tissues, blood, and more
with a variety of sample types, including cells, tissues, blood, and more
Interested in trying a sample
Interested inMonarchsample
of our new trying a Total
of our new Monarch Total
RNA Miniprep Kit?
RNA Miniprep Kit?
Make the change and migrate to Monarch today.
Make the change and migrate to Monarch today.
One or more of these products are covered by patents, trademarks and/or copyrights owned or controlled by New England Biolabs, Inc.
For more information, please email us at gbd@neb.com.
The usemore of these products require you to obtain additional third partycopyrights owned or controlled certain applications.
One or of these products may are covered by patents, trademarks and/or intellectual property rights for by New England Biolabs, Inc.
© Copyright 2017, New England Biolabs, Inc.; all rights reserved.
For more information, please email us at gbd@neb.com.
The use of these products may require you to obtain additional third party intellectual property rights for certain applications.
Learn more at
Learn more at
NEBMonarch.com
NEBMonarch.com
MAY 2018
Contents
THE SCIENTIST
THE-SCIENTIST.COM
VOLUME 32 NUMBER 5
© ISTOCK.COM/XFZSY; © CATHERINE DELPHIA; THE CALLIOPE JOY FOUNDATION
Features
ON THE COVER:
THE SCIENTIST
STAFF/© ISTOCK.COM/RAWPIXEL
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
0 5 . 201 8 | T H E S C IEN T IST
3

Plik z chomika:

Inne pliki z tego folderu:

Inne foldery tego chomika:

Zgłoś jeśli naruszono regulamin