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.
The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout 
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
Archives
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Genetic LinkageSupreme Court BRCA Decision: Use Correct Terminology!June 14, 2013 
(credit: Dept of Energy)
No one offered me an interview with a geneticist – a person who knows something about DNA. So being such a person myself, I decided to take a look at the decision. And I found an error right smack in the opening paragraph: (more…) Juvenile Huntington's Disease: The Cruel MutationJune 3, 2013 
Jane and Karli Mervar
Soon Karli could no longer skip, hop, or jump. And new troubles emerged. (more…) A Little Girl with Giant Axons, a Deranged Cytoskeleton, and Someday Gene TherapyMay 16, 2013 
Hannah, 7 years old (Dr. Wendy Josephs)
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…) Celebrating Gleevec – and Basic ResearchMay 10, 2013 
Peter Nowell and David Hungerford began the work that led to the successful cancer drug Gleevec (Penn Medicine)
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…) The Sickle Cell/Malaria Link RevisitedApril 25, 2013 
Eman is a medical student in Liberia.
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 TextbookApril 19, 2013 
10 editions of my textbook chronicle the evolution of genomics
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 
Careful combining of ingredients keeps blood sugar down.
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 SurpriseApril 14, 2013 
(Gray's Anatomy)
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 DiscoveryApril 12, 2013 
Disease-causing mutations in healthy people suggest new drug targets. (NHGRI)
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…) Incidental Findings from Genome Sequencing – Nuances and CaveatsMarch 24, 2013 
A genome sequenced to investigate one disease may reveal another.
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…) |
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