The Forever Fix gang: Corey Haas with book, surrounded by mom Nancy and dad Ethan Haas, Ricki Lewis on left next to Lori and Hannah Sames. At book signing 3/24/12, Barnes + Noble, Albany NY.
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
May 16, 2013
Hannah, 7 years old (Dr. Wendy Josephs)
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases worldwide, is surely a unicorn.
Five years ago this week, 9-year-old Hannah Sames of Rexford, New York, who lives near me, received a diagnosis of GAN, a disease much like amyotrophic lateral sclerosis. And this month, thanks in part to the herculean fundraising efforts of Hannah's Hope Fund
(HHF), the cover and lead article of the Journal of Clinical Investigation
reveal most of the story behind the devastating inherited disease, with repercussions that will reach far beyond the tiny GAN community. (more…)
May 10, 2013
Peter Nowell and David Hungerford began the work that led to the successful cancer drug Gleevec (Penn Medicine)
When 23-year-old Glamour magazine editor Erin Zammett Ruddy went for a routine physical in November 2001, she expected reassurance that her healthy lifestyle had been keeping her well. After all, she felt great. What she got, a few days later, was a shock. Instead of having 4,000 to 10,000 white blood cells per milliliter of blood, she had more than 10 times that number – and many of the cells were cancerous.
Erin had chronic myeloid leukemia (CML). Two years before her diagnosis, CML was a death sentence. But the drug Gleevec
saved her and many others. It offers perhaps the best example of translational medicine. (more…)
April 25, 2013
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…)
April 19, 2013
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…)
April 15, 2013
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!
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
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)
FOR VEGETARIANS just leave out the beef!
April 14, 2013
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…)
April 12, 2013
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…)
March 24, 2013
A genome sequenced to investigate one disease may reveal another.
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. (more…)
March 21, 2013
This little boy has heritable retinoblastoma. The mutation originated in him, so he didn't inherit it, but he can pass it on.
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.” (more…)
March 13, 2013
Romeo is our third FIV-positive cat.
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. (more…)
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
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.
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.
DNA reflects who we are -- but it isn’t the whole story.
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
The Art of Relating BlogTalkRadio.com with Christine Kniffen
7/9/12 hourlong discussion about rare diseases + The Forever Fix
MesotheliomaHelp.net recommends The Forever Fix
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
How "The Forever Fix: Gene Therapy and the Boy Who Saved It" Wrote Itself
WOCA The Source podcast, May 21, 2012
WOCA The Source radio show podcast about The Forever Fix, May 21, 2012
The Ann Parillo Schenectady Today Show, April 17, 2012
TV segment on "The Forever Fix: Gene Therapy and the Boy Who Saved It"
Are DNA Patents Doomed? Scientific American blog 4/3/12
A brief history of patenting genes, current controversial cases, and a look ahead
"The Roundtable" WAMC Albany, NPR station, March 15, 2012
Joe Donahue interviews Ricki Lewis about "The Forever Fix: Gene Therapy and the Boy Who Saved It"
New Hope for Gene Therapy: A Young Boy's Fight Against Blindness
A short video about Corey Haas's gene therapy -- the subject of my book, "The Forever Fix: The Boy Who Saved Gene Therapy"
Publishers Weekly starred review
first advance review for The Forever Fix
Corey Plays Little League
A wonderful video of the family at the center of The Forever Fix: Gene Therapy and the Boy Who Saved It
Article on leptin and Jeffrey Friedman in RPI alumni magazine
The Forever Fix: Gene Therapy and the Boy Who Saved It
Alden March Bioethics Institute blog
Alden March Bioethics Institute blog
Advocates for published authors since 1912
Authors Guild Directory
A compendium of member websites