Akanchha Kesari, PhD. FACMG, MB (ASCP)
Department of Human Genetics
Director, Molecular Genetics Laboratory
Office: Room No: 277
Lab: 2460 Mountain Industrial Boulevard, Tucker GA-30084
BiographyI am a clinical molecular geneticist with special interest in muscular dystrophies, particularly interested in applying Next-Generation Sequencing approaches for the diagnosis of human conditions.
Carried out a number of research projects using other genomics methods, such as mRNA profiling and microRNA profiling. Experience in number of genotyping projects, particularly focused on genetic modifiers of
Areas of Specialization
- Clinical Molecular Diagnosis
- Novel and high throughput methodologies to detect sequence variation in muscular dystrophy and neurological disorders
- Genetics modifiers of monogenic disease (DMD)
- ABMG Clinical Molecular Genetics fellowship, National Human Genome Research Institute, National Institute of Health, Bethesda,2012
- Post-doctoral Fellowship, Center for Genetic Medicine, Children¿s National Medical Center, Washington, DC,2010
- PhD, Genetics, Sanjay Gandhi Post graduate Institute of Medical Sciences, Lucknow, India,2005
- MSc, Microbiology, Dr RML Avadh University, Faizabad, India,2000
- BSc, Botany, Chemistry, Purvanchal University, Varanasi, India,1998
American Board of Medical Genetics and Genomics: Clinical Molecular Genetics
American Society of Clinical Pathologists: Molecular Biologist
Fellow American College of Medical Genetics (FACMG)
American society for clinical pathologist
The Cooperative International Neuromuscular research group (CINRG)
Honors and Awards
World muscle society fellowship for 18TH International WMS congress, Asilomar, USA
NIH (NIAMS) T-32 award for Development of new method for molecular diagnosis of muscular dystrophy using next generation sequencing technology, grant period 2010-2013.
March of Dimes scholarship to attend the Short Course on Medical and Experimental Mammalian Genetics, Bar harbor, ME.
Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North K, Bönnemann CG, Donkervoort S, Neu M, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B and Hoffman EP. Targeted re-sequencing emulsion PCR panel for myopathies: results in 94 cases. J Neuromuscul Dis. 2016 May 27;3(2):209-225.
Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2017 Feb;55(2):277-281
Punetha J, Mansoor S, Bertorini T, Kesari A, Hoffman EP Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. Eur J Hum Genet. 2016 Oct;24(10):1511-4.
Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, Duong T, Henricson EK, Pegoraro E, McDonald CM, Hoffman EP; on behalf of the CINRG Investigators. Genetic modifiers of ambulation in the CINRG duchenne natural history study. Ann Neurol. 2015 Apr;77(4):684-96. (First two author’s equal contribution).
Pandey SN, Kesari A, Yokota T, Pandey GS. Muscular Dystrophy: Disease. Mechanisms and Therapies. Biomed Res Int. 2015;2015:456348.
O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2015 Jun;23(6):883-6.