New edition just published! Order from publisher or Amazon


Tags

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

Genetic Linkage

Emanís Emails from Liberia: Through September

October 24, 2014

Tags: Ebola, Liberia, virus, epidemiology, Monrovia

Emmanuel Gokpolu with his son, little Larry
Emmanuel Gokpolu, who lives in Liberia, calls me Mom, although he has a wonderful real mother. In Africa, family isnít only about DNA.

Eman contacted me in 2007, after using my human genetics textbook in college. My husband Larry and I had been putting him through medical school in Monrovia -- until Ebola happened. Now the funds go for gloves, long sleeve shirts, detergents, food and medicine, to keep Eman and his family, including his almost-one-year-old son, Larry, safe.

This week Eman asked me to share his emails, which began arriving before many people here had heard of Ebola virus disease, or cared much about it if they had. The disease seemed, and was, half a world away.

The world is a small place. (more…)

SCID-X1 Gene Therapy, Take 2

October 12, 2014

Tags: gene therapy, bubble boy, SCID-X1, ADA deficiency, forever fix

David Vetter had SCID-X1 and became known as the bubble boy. (NASA)
Beneath all the bad news about viruses this week lies a good virus: the one that underlies gene therapy for X-linked severe combined immunodeficiency (SCID-X1),

Altered viruses are the vehicles that transfer healthy human genes into the cells of people in whom the genes arenít working, providing a slew of new ďforever fixes.Ē Nearly 100 gene transfer protocols are now in late-stage clinical trials. (more…)

No Ice Buckets or Pink Ribbons for Very Rare Genetic Diseases

October 10, 2014

Tags: rare diseases, ice bucket challenge, Leber congenital amaurosis, Batten disease, giant axonal neuropathy, juvenile Huntington disease, ALS, breast cancer

As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, ďrare diseaseĒ in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people. Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer arenít inherited as single-gene traits, but are sporadic. Mutations happen during a personís lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). (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.

Quick Links