On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 (more…)
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
|
Genetic LinkageRare Diseases: 5 Recent Reasons to CheerJuly 31, 2012
3-year-old Gavin Stevens is at the center of one of four papers just published in Nature Genetics about the discovery of a childhood blindness gene.
On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 (more…) Gavin's Story Revisited -- Childhood Blindness Mutation DiscoveredJuly 29, 2012
Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the Foundation for Retinal Research. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, (more…) A Good Death, the Hospice WayJuly 13, 2012
I stood among her things, piled on the bed, a scene that always astonishes me. For this is what many people are reduced to at the end: after a series of downsizings, a small pile of stuff.
If “Fifty Shades of Grey” Had Been Written by a Biology Textbook AuthorJuly 10, 2012
What if "Fifty Shades of Grey" was about -- digestion?
Human Stem Cells from Amniotic FluidJuly 4, 2012
Stem cells from amniotic fluid are like Russian nesting dolls -- they are derived from the cells that would become sperm or eggs in a fetus.
|
|