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

Genetic Linkage

Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

July 1, 2015

Tags: Aicardi syndrome, genome sequencing, rare diseases

(NHGRI)
As the number of sequenced human genomes climbs and the time to sequence a genome plummets, I find myself drawn more to the small stories, the incremental revelations that may affect only a few individuals.

A few weeks ago, a study published in Investigative Ophthalmology and Visual Science caught my attention. Researchers at the Translational Genomics Research Institute (TGen) in Phoenix used exome and genome sequencing to probe the origins of a condition I'd never heard of -- and the findings were surprising. (more…)

The Battle of the Prenatal Tests

December 9, 2012

Tags: chromosomal microarray, DNA chip, genome sequencing, translocation, prenatal testing, amniocentesis, ultrasound, genetic counseling

(credit: NHGRI)
The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.

“The ultrasound from 15 weeks looks fine,” I stalled, trying to present the good news first.

“What about the amnio?”

“Well, there is something unusual. It’s the Y chromosome. Part of it appears to be flipped. What we call an inversion. It’s a little like if the exits on a highway turned around,” I explained.

The couple looked at each other, puzzled, then back at me, and he reached for her hand.

“What does that mean?” they both asked. (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 10th edition.
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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