LGMD “Spotlight on Research”

 

RICERCATORE LGMD: Kathryn Wagner, MD, PhD

Affiliazione:  Kennedy Krieger Institute

Ruolo o posizione: Professor  and Director of the Center for Genetic  Muscle Disorders

 

Che tipo di istruzione e formazione ha seguito per arrivare alla sua posizione attuale?

After I completed an MD/PhD program I did a residency in Neurology followed by fellowships in Neuromuscular and Neurogenetics.  I also did a postdoctoral fellowship in Molecular Biology.

Cosa l'ha spinta a intraprendere una carriera nella ricerca e nello studio della distrofia muscolare in particolare?

My father is a prominent scientist and I always assumed that I would go into science. It was rather late in college that I decided I would like to go into medicine also.  I became interested in muscular dystrophy when in graduate school I cloned (by chance) a gene, dystrobrevin, that has some similarities to dystrophin the gene that is missing in Duchenne muscular dystrophy (DMD).  I learned all I could about muscular dystrophy and was fascinated by the discoveries at that time of dystrophin associated molecules implicated in other muscular dystrophies.

Quali argomenti state studiando?

I run a translational laboratory that is centered on developing novel therapeutics for muscular dystrophy.  We are currently studying models of DMD, facioscapulohumeral muscular dystrophy and LGMD.  In the clinic, I am studying the effects of an anti-myostatin drug produced by Pfizer in LGMD2I.

In che modo il suo lavoro aiuterà i pazienti? È di natura più scientifica o potrebbe diventare un trattamento per le LGMD o per i medici in generale?

Our laboratory research on AAV and cell therapy has the potential to become treatments for LGMD and MDs in general.  If the clinical trial of Pfizer’s anti-myostatin drug is successful that has the shortest path to treatment.

Cosa vorrebbe che i pazienti e gli altri interessati alla LGMD sapessero sulla ricerca (sui vostri progetti e sul campo in generale)?

Gene therapy has made tremendous progress in the past several years.  It is realistic to assume that we will have systemic gene therapy trials in LGMD in the near future.  In my own work, we are developing novel  AAV to better home to muscle and not liver.

Cosa la ispira a continuare a lavorare in questo campo?

The patient population is irresistible.  They strive to lead full rewarding lives despite their physical challenges.

In che modo i pazienti possono incoraggiarvi e aiutare il vostro lavoro?

Verbal encouragement is wonderful as is financial support for our research.

 

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