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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Genetics in 2016: Breakthrough, Breakdown, and Bridge

December 21, 2016

Tags: gene therapy, CAR-T technology, exon skipping, Duchenne muscular dystrophy, spinal muscular atrophy, DMD, SMA

I dislike end-of-year "best of" lists, especially the "breakthroughs" that imply scientific discoveries and medical advances emerge from out of nowhere. Often they're the product of PR machines that select and then catapult certain research findings into the news releases that dictate the headlines.

WHAT MAKES SCIENCE NEWS?
Much of science news is released to journalists ahead of time (embargoed) so that we can investigate background and conduct interviews. This year, the Food and Drug Administration began offering news even earlier to select media outlets. (more…)

Linking Gaucher and Parkinsonís Diseases

December 11, 2016

Tags: Gaucher disease, Parkinson's disease, lysosomal storage disease

"Gaucher cells" have a crinkly appearance from the build-up of glucocerebroside.
This month, JScreenís ĒSpit Happens" campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation. The "spit happens" is an entertaining view of people spitting into tubes to collect DNA from dislodged cheek lining cells. (more…)

Parent Roundtable: Before and After Gene Therapy

December 2, 2016

Tags: gene therapy, rare diseases

Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 21st Century Cures Act winds its way through the lame duck Congress, Iím reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and Iíd introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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