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

Genetic Linkage

The Sickle Cell/Malaria Link Revisited

April 25, 2013

Tags: DNA Day, World Malaria Day, Anthony Allison, malaria, sickle cell disease, balanced polymorphism, DNA Science

Eman is a medical student in Liberia.
Today is both DNA Day and World Malaria Day. As I was pondering how to connect the topics, e-mail arrived from my “son,” a medical student in Liberia. He had malaria, again, and this time it had gone to his brain.

I “met” Emmanuel in 2007, when he e-mailed me after finding my contact info at the end of my human genetics textbook, which he was using in his senior year of high school. He is my personal link between DNA Day and World Malaria Day. But the dual commemoration also reminds me of the classic study that revealed, for the first time, how hidden genes can protect us – that carriers of sickle cell disease do not get severe malaria. (more…)

DNA Day: 20 Years of Writing a Human Genetics Textbook

April 19, 2013

Tags: human genome, DNA, genetics, Gregor Mendel, cystic fibrosis, textbook

10 editions of my textbook chronicle the evolution of genomics
This month we celebrate the DNA anniversaries: unveiling of DNA’s structure in 1953, and the human genome sequence in 2003.

From now until DNA Day, April 25, bloggers will be worshipping the human genome. Nature will offer podcasts (“PastCasts”) and last week, Eric Green, director of the National Human Genome Research Institute, spoke to reporters, summarizing the “quantitative advances since the human genome project.”

It’s also the 20th anniversary of my non-science majors textbook, Human Genetics: Concepts and Applications. Writing the 10 editions has given me a panoramic view of the birth of genomics different from those of researchers, physicians, and journalists. Here are a few observations on the evolution of genetics to genomics, as I begin the next edition. (more…)

LGIS (low glycemic index soup/stew)

April 15, 2013

Tags: glycemic index, diabetes, blood sugar, recipes

Careful combining of ingredients keeps blood sugar down.
To help people with high blood glucose, I investigated the glycemic index for many vegetables, and invented something actually palatable, Low Glycemic Index Soup/Stew (LGIS). Be liberal with spices (I use Greek mix), and it's great. Tasty, easy, filling, cheap, easily made vegetarian, and it lowers blood sugar 2 hours post-prandial to about 110!

In crockpot:

celery (handful of small pieces)
1 big can of tomatoes, squished, or fresh
a few baby carrots cut up (limit these)
1 small zucchini cut into small cubes
1 whole zucchini, smashed after it softens
1 very small cut up onion
handful of fresh green beans, cut into pieces
1 cup broccoli + cauliflower pieces (from frozen mix)
lots of small pieces of bok choy
½ can chick peas (or whole can for stew) (lentils ok too)
1 pound beef in small cubes
veggie broth
beef broth
parsley (a bit)
spinach (handful or more)
cabbage OK but it gets a little smelly

DO NOT USE
Root vegetables – no parsnips, turnips, leeks, potatoes
More than 1 onion
More than 4 baby carrots
Beans (other than green and chickpeas)
Peas

FOR VEGETARIANS just leave out the beef!

A Spleen Gene – And A Ribosomal Surprise

April 14, 2013

Tags: asplenia, spleen gene

(Gray's Anatomy)
The spleen is a very unappreciated body part. The Talmud considered it the “organ of laughter,” whereas the ancient Greeks equated it with melancholy. Today it’s sometimes used to mean anger.

When a spleen bursts, spewing all manner of blood cells, we take it out – as happened to Katniss Everdeen in the third installment of The Hunger Games and to Jack Ryan’s daughter in Tom Clancy’s Patriot Games. But starting life without a spleen is a whole different story. It’s deadly.

“The spleen is not the brain. No one thinks it’s very important,” says Alexandre Bolze, PhD, a postdoctoral researcher at Rockefeller University. His discovery of what causes a person to lack a spleen, reported April 11 in Science Express, has implications far beyond a ridiculed body part. (more…)

Genetic Modifiers: Healthy Mutants Fuel Drug Discovery

April 12, 2013

Tags: BRCA1, BRCA2, incomplete penetrance, 23andMe, exome, genome, genetic counseling, amyloidosis, Alzheimer, Parkinson

Disease-causing mutations in healthy people suggest new drug targets. (NHGRI)
I’m uneasy counseling a patient for mutations in the BRCA1 or BRCA2 cancer susceptibility genes. Typically, she’ll have a “first degree relative” – usually a mother or sister – with a related cancer, or might even have a test result in hand. This happened a week ago.

FUZZY GENETIC INFORMATION
My patient comes from a long line of female relatives who’d died young from breast or ovarian cancer. She’s already been tested and knows she has a BRCA1 mutation. Will she get the family’s cancer? Knowing would enable her to decide whether and when to undergo surgery to remove her breasts, ovaries, and uterus. (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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