Nascent Transcript Author: Anna Miller A recent decision by the pharmaceutical company Novartis to provide 100 free gene therapy treatments for spinal muscular atrophy (SMA), a debilitating yet rare genetic condition, to patients selected through a lottery program has sparked debate about the ethical implications. SMA is a rare autosomal recessive genetic disorder caused by... Read More
Trainee Author: Raluca Nicoli, Pharm, PhD Postdoctoral Researcher National Human Genome Research Institute National Institutes of Health (Photo courtesy Nicoli) Nicoli E, et al. Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. 2019 June 6;104(6) This month’s Trainee Paper Spotlight article is a prime example... Read More
This month on Inside AJHG: Sue Slaughenhaupt describes her research on treating familial dysautonomia in a mouse model by modifying splicing. Read More
Happy DNA Day! Every April 25, we commemorate the completion of the Human Genome Project in 2003 and discovery of the double helix of DNA in 1953. ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest. Open to high school students worldwide, the contest asks students to... Read More
Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org Embargoed for Release Tuesday, April 25, 2017 12:00 pm U.S. Eastern Time High School Contest Addressed Modern Examples of Gene Therapy BETHESDA, MD – In commemoration of National DNA Day, the American Society of Human Genetics (ASHG) hosted the 2017 DNA Day Essay Contest to encourage high school... Read More
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