Ricki Lewis

Last week DNA Science covered a setback in a clinical trial of a gene therapy for Duchenne muscular dystrophy (DMD). Also recently, FDA's Cellular, Tissue, and Gene Therapies Advisory Committe turned down a stem cell treatment for amyotrophic lateral sclerosis, aka ALS, Lou Gehrig's disease, or motor neuron disease.

 

The two conditions and the therapeutic approaches differ, but their clinical trials illustrate the importance of selecting patients whose characteristics suggest that they are the most likely to respond.

DMD affects 1 in 3,500 male births, compared to approximately 1 in 400 people who develop ALS during their lifetime.

 

To continue reading, go to DNA Science, where this post first appeared.

When a disease is as relentless as amyotrophic lateral sclerosis (ALS; aka Lou Gehrig’s disease; aka motor neuron disease), any promising research result is welcome news.
A study just published in Science Advances shows that two drugs already FDA-approved for other diseases, when teamed, halt neuron death and bolster muscle contraction in an “organ-on-a-chip” model of ALS. When the drugs meet in a device that places tiny balls of motor neurons from a patient next to strips of healthy skeletal muscle, the set-up not only recapitulates the disease, but shows the synergy of the drugs. They are rapamycin (Sirolimus) and bosutinib (Bosulif).

To continue reading go to DNA Science, my blog at Public Library of Science, where this post first appeared. Read More 

As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, “rare disease” in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people.

Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer aren’t inherited as single-gene traits, but are sporadic. Mutations happen during a person’s lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). Read More 

Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A,  Read More 

“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat.  Read More 

”Dignity therapy" is a “novel psychotherapeutic approach” that gives patients with a 6-month life expectancy “an opportunity to reflect on things that matter most to them or that they would most want remembered.” In these days of medical experts such as Sarah Palin equating reimbursed end-of-life discussions to death panels killing granny, an outcomes evaluation of any such intervention is essential. Read More