Spinal muscular atrophy type 1 (SMA) begins when a parent notices that her infant can’t lift his head, a key milestone in early development. It ends with the silent passing of a toddler, his body lacking the neuromuscular function to live. This deadly disease affects almost 400 newborns in the United States each year, and approximately 13,000 per year globally. It arises because of a single defective gene. There is no cure.
In 2016, the FDA approved the first disease-modifying drug for SMA called nusinersen (Spinraza). It works by using a small strand of RNA to patch up a less…
Jargon from the pre-genomics era blinds us to new possibilities.
Originally published at www.tabletmag.com, in September 2017.
My birthday, which falls over Labor Day weekend, has typically served as a harbinger of the other riches of September. These traditions include my wedding anniversary, the start of the academic year, the arrival of crispy Autumn, and of course the high holy days of Rosh Hashanah and Yom Kippur. And in my first September since a sudden cardiac arrest nearly killed me nine months ago, my sense of awe for this season of change has only been heightened.
I have always been a healthy guy, probably pretty boring for an actuary. And…
White sheet sails and small boats loaded with brightly painted lobster buoys sprinkle the clean water of Boothbay Harbor. A lighthouse at the southwestern end of the peninsula is the finishing touch atop a sweet slab of slate and volcanic stones that have faced eons of perfect storms. The sea and the shore and the people that have made their homes in this space each contribute a measure of truth to the exquisite beauty.
The sheer beauty of the place causes me to alternate between awe and restfulness. The white noise of the tide rolling in, and of boats gently…
Originally published at www.wired.com, in June 2017.
One morning, a few months ago, I didn’t wake up. My 29-year-old heart had suffered from a sudden and complete cardiac arrest as I slept.
Sudden cardiac arrest kills nine out of 10 people who experience it, and it is a leading cause of death in the United States. But it isn’t supposed to afflict a healthy young person. Fortunately, my wife is a light sleeper, and unflappable under pressure. She came to my rescue, and saved my life by performing CPR until the medics responded to her 911 call.
Genetic testing would…
Originally published at www.tabletmag.com, in November 2016.
A September survey by the American Jewish Committee suggested that American Jews overwhelmingly prefer Hillary Clinton (61%) to Donald Trump (19%) in the race for the U.S. presidency. While a wide margin was likely expected, some may find surprise in the fact that Trump has the support of any Jews at all, as his campaign has struck anti-Semitic nerves, time and again, apparently hoping to energize a certain “base” of voters. …
