Education & Training:
University of Illinois, Urbana/Champaign, 1986 B.M. in Trumpet Performance
Rush Medical College, Chicago, Illinois, 1990 M.D.
University of Michigan, Ann Arbor 1990-91 Internship (Internal Medicine)
The Johns Hopkins Hospital, Baltimore 1991-94 Residency (Neurology)
The Johns Hopkins Hospital, Baltimore 1994-95 Postdoctoral Fellow (Neuromuscular Disease)
University of Utah, Salt Lake City 1995-97 Postdoctoral Fellow (Neurogentics/Molecular Biology)

Research Interest:
In the laboratory we study mechanisms of pathogenesis in the muscular dystrophies, and in the clinic setting, we seek to bring novel therapies to patient-based clinical trials.  The most common form of muscular dystrophy are the dystrophinopathies, which include the more severe Duchenne Muscular Dystrophy (DMD) and the milder Becker Muscular Dystrophy (BMD).  Both DMD and BMD are caused by mutations in the DMD gene, encoding the dystrophin protein.  The major determinant of severity is whether the mutation results in an mRNA that maintains an open reading frame that allows translation of a functional amino- and carboxy terminus, with little impact due to the size of the central rod domain deletion.  In our lab, we study genotype/phenotype correlations with a specific eye toward exceptions to this reading frame rule, and seek to determine what these mutations tell us about dystrophin function and DMD disease pathogenesis.  As one example, we have recently defined the first founder disease allele in the DMD  gene; this mutation, along with other nonsense mutations in the 5’ end of the gene, is associated with very mild BMD, and we have recently defined the alternate translational initiation sites within DMD exon 6 responsible for phenotypic rescue.  Other mutations identified from patients have led to ongoing projects that seek to define the function of the dystrophin ZZ domain, and to determine the role of nonsense-mutation sequence context in rescuing the DMD phenotype by altered mRNA splicing.  The long term goal is to determine potential novel therapeutic pathways by improving understanding of muscular dystrophy pathogenesis and dystrophin function.

Selected Publications:

• Vulin A, Wein N, Strandjord DM, Johnson EK, Findlay AR, Maiti B, Howard MT, Kaminoh YJ, Taylor LE, Simmons TR, Ray WC, Montanaro F, Ervasti JM, Flanigan KM. The ZZ domain of dystrophin in DMD: making sense of missense mutations. Hum Mutat. 2014 Feb;35(2):257-64. PubMed PMID: 24302611; PubMed Central PMCID: PMC4145872.

• Wein N, Vulin A, Falzarano MS, Al-Khalili Szigyarto C, Maiti B, Findlay A, Uhlén M, Bakthavachalu B, Messina S, Vita G,, Gualandi F, Wilton SD, Dunn DM, Schoenberg D, Weiss RB, Howard MT, Ferlini A, Flanigan KM. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nature Medicine 2014 Sep;20(9):992-1000; PMID: 25108525

• Greer KL, Lochmüller H, Flanigan K, Fletcher S, Wilton SD. Targeted exon skipping to correct exon duplications in the dystrophin gene. Mol Ther Nucleic Acids. 2014 Mar 18;3:e155. PMID: 24643206

• Flanigan KM, Voit T, Rosales XQ, Servais L, Kraus JE, Wardell C, Morgan A, Dorricott S, Nakielny J, Quarcoo N, Liefaard L, Drury T, Campion G, Wright P. Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial. Neuromuscul Disord. 2014 Jan;24(1):16-24. PMID: 24321374.

• Wein N, Vulin A, Falzarano MS, Al-Khalili Szigyarto C, Maiti B, Findlay A, Uhlén M, Bakthavachalu B, Messina S, Vita G,, Gualandi F, Wilton SD, Dunn DM, Schoenberg D, Weiss RB, Howard MT, Ferlini A, Flanigan KM. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nature Medicine 2014 Sep;20(9):992-1000; PMID: 25108525

• Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013 Nov;74(5):637-47. PMID: 23907995

• Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy. Ann Neurol. 2013 April;73(4):481-88. PubMed PMID: 23440719

My NCBI Link: http://www.ncbi.nlm.nih.gov/sites/myncbi/k.flanigan.1/bibliography/40032228/public/?sort=date&direction=descending