Ricki Lewis

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. Read More 

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. Read More 

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! Read More 

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. Read More 

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. Read More 

You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up – a so-called “incidental finding.”

Surprises, of course, aren’t new in medicine. The term “incidental finding” comes from “incidentaloma,” coined in 1995 to describe an adrenal tumor found on a scan looking for something else. I had one -- a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer’s imaging trial, and her scan revealed two brain aneurysms!

Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing. Read More 

In a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind the childhood eye cancer retinoblastoma, and that Alfred Knudson investigated to deduce the 2-hit mechanism of cancer.

In 1971, the idea that the normal function of a gene could be to prevent cancer was revolutionary. Now a study in Lancet Oncology finds that an amplified oncogene can cause the eye cancer too, with just one “hit.” Read More 

Since my January 24 blog “My Cat Has AIDS," about my two feline immunodeficiency virus (FIV)-positive cats, we’ve acquired a third, the handsome Romeo. He, too, came to us from Orange Street Cats, on Valentine’s Day.

Romeo was found in an inner city park where people who can barely afford to feed their families nevertheless care for the burgeoning population of stray cats. “His origins are unknown, but I’d been feeding him along with other backyard cats where I live, a short distance from the vet,” said Ethel, the kind woman who saved him. “When Romeo injured his front leg, I trapped him and took him to the vet. The leg wasn't broken, but they determined he is FIV positive, with no symptoms, so I couldn't keep him,” because she already had an adult, indoor cat. Read More 

While we’re busy debating the pros and cons of clinical genome sequencing and tossing around buzzwords like “personalized” and “translational” medicine, I’ve recently caught some health care providers ignoring the archaic skills of communication and common sense. So while we await genome analysis apps and DNA annotators in our doctors’ offices, here are 3 suggestions on how to provide personalized medicine right now:

1. Read the patient’s chart (paper or digital)

2. Listen to the patient

3. Look at the patient

Disclaimer: Today’s blog is anecdotal and non-scientific, but may identify a trend.
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“When you hear hoofbeats, think horses, not zebras.”

Every doctor-to-be hears this mantra. Rare Disease Day, February 28, celebrates the 7,000 or so diseases that are zebras, each affecting fewer than 200,000 people.

Giant axonal neuropathy (GAN) isn’t a zebra, but a unicorn. Eight-year-old Hannah Sames inherited one mutation from each of her parents in a gene that encodes a protein called gigaxonin. As a result, the axons of her motor neurons are slowly filling up with haphazardly-arrayed intermediate filaments. The cells bulge, blocking the messages to her muscles. She’s one of only 50 in the world known to have GAN. But if all goes according to schedule, Hannah and several other youngsters are going to have gene therapy to correct the disease. Read about it at Hannah’s Hope Fund.

Two years ago, at the annual meeting of the American Society of Gene and Cell Therapy in Washington, I had the honor of watching Hannah’s marvelous mom Lori as she watched a child helped by gene therapy – Corey Haas, whose story bookends a brief history of the technology in "The Forever Fix: Gene Therapy and the Boy Who Saved It".

Here’s an excerpt, for Rare Disease Day. Read More