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tag tay sachs disease genetics genomics

Founder Populations Fuel Gene Discovery
Ricki Lewis | Apr 15, 2001 | 8 min read
The field of human genetics has never been "politically correct." The first gene screens created in the 1970s, for sickle cell disease and Tay-Sachs disease, targeted African American and Ashkenazi (eastern European) Jewish populations, respectively. This targeting made economic sense as these conditions are more prevalent within these populations. It isn't that genes discriminate, but that the human tendency to select mates like themselves tends to keep particular gene variants within certain g
A Genetic Checkup: Lessons from Huntington Disease and Cystic Fibrosis
Ricki Lewis | Oct 19, 2003 | 9 min read
Thom Graves Media While genome sequencing may be the new kid on the block--perhaps now with a cracking voice and fuzzy facial hair--predicting phenotypes is the stuff of classical genetics, honed on the rare single-gene disorders, such as Huntington disease (HD) and cystic fibrosis (CF), which dominated the field in the last century (see Genetic Testing Timeline). "Geneticists today are portrayed as soothsayers of the future. But predictive medicine and testing has a significant history," says
Famed Geneticist Dies
Jef Akst | May 31, 2012 | 1 min read
David Rimoin, a medical geneticist and the founding president of the American College of Medical Genetics and Genomics, passes away at age 75.
Panel Lays Out Guidelines for CRISPR-Edited Human Embryos
Lisa Winter | Sep 4, 2020 | 2 min read
The International Commission on the Clinical Use of Human Germline Genome Editing claims the technology is still too risky for therapeutic use.
Genetics-Based Testing Could Create A Biologic Underclass
Dorothy Nelkin | Nov 26, 1989 | 9 min read
[Editor’s note: Sophisticated biological tests that can uncover latent problems or predict future diseases have been developed over the past few years. Such tests have important clinical applications, but they also have found their way into nonclinical contexts in which they provide unprecedented threats to our traditional concepts of privacy and personal autonomy. So say Dorothy Nelkin and Laurence Tancredi, coauthors of a new book, Dangerous Diagnostics: The Social Power of Biological I
Preimplantation Genetic Diagnosis: The Next Big Thing?
Ricki Lewis | Nov 12, 2000 | 9 min read
Courtesy of David Hill, ART Reproductive Center Inc.Two separated blastomeres subjected to FISH analysis to check the chromosomes. In early October, preimplantation genetic diagnosis (PGD) made headlines when a Colorado couple used assisted reproductive technology (ART) to have a baby named Adam, whose umbilical cord stem cells could cure his six-year-old sister Molly's Fanconi anemia.1 When Adam Nash was a ball of blastomere cells, researchers at the Reproductive Genetics Institute at Illinois
Gene Therapy Targets Canavan Disease
Douglas Steinberg | Sep 16, 2001 | 6 min read
The Canavan trial signals a new phase in a 10-year offensive that gene therapy researchers have waged against neurodegenerative disorders.
prime editing crispr cas9 genome editing techniques
New “Prime Editing” Method Makes Only Single-Stranded DNA Cuts
Emma Yasinski | Oct 21, 2019 | 4 min read
In demonstrations in cell lines, the technique has a similar efficacy to CRISPR-Cas9, but fewer off-target effects.
Race and the Clinic: Good Science?
Ricki Lewis | Feb 17, 2002 | 8 min read
Humans have long embraced the idea of grouping and naming people who have distinct, genetically determined physical characteristics, like almond-shaped eyes or different skin color. It made sense, from a social standpoint (think safety, politics, and business) to align one's self with kin. However, studying race from a biological point of view, in the hopes of learning about specific diseases or developing new drugs, is a different matter altogether. "Race is generally not a useful consideration
Ethnicity tied to gene expression
Melissa Lee Phillips | Jan 8, 2007 | 3 min read
SNP-driven differences in gene expression help distinguish ethnic groups

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