Harrison School of Pharmacy
Faculty and Staff Directory
|Nancy D. Merner
Assistant Research Professor
Department: Drug Discovery and Development
Harrison School of Pharmacy
3306a Walker Building
Auburn, AL 36849
Phone: (334) 844-7469
Fax: (334) 844-8331
Dr. Merner is a native of Paradise, Newfoundland, Canada. She pursued her graduate studies at Memorial University of Newfoundland under the direction of Dr. Terry-Lynn Young, an Associate Professor within the Faculty of Medicine (Discipline of Genetics).
Dr. Merner’s dissertation, “A Molecular Genetics Approach to Gene Discovery of Mendelian Diseases on the Island of Newfoundland” (May 2011), focused on the genetics of hereditary breast cancer, deafness, and a specific form of sudden cardiac death (arrhythmogenic right ventricular cardiomyopathy (ARVC)). The most significant contribution of her doctoral studies came in 2008 as a member of a dedicated research team that discovered TMEM43 as the cause of ARVC type 5 (ARVC5).
Dr. Merner moved to Montreal, Quebec, Canada, where she became a post-doctoral fellow in the laboratory of Dr. Guy Rouleau, who is currently the director of the Montreal Neurological Institute. Under Dr. Rouleau’s guidance, she continued to fulfill her passion for gene discovery but this time in the field of neurogenetics. Dr. Merner’s primary focus as a postdoctoral researcher was in the application of next-generation sequencing (NGS) techniques for the identification of disease-causing genes; her specific diseases of interest were essential tremor (ET), autism spectrum disorder (ASD), insensitivity to pain (HSAN) and epilepsy.
In 2012, Dr. Merner used exome sequencing to implement a simple approach to control for the common over-diagnosis of ET (as well as phenocopies) and discovered the first causative ET gene, FUS.
In February 2014, Dr. Merner became a Research Assistant Professor at Auburn University in the Department of Drug Discovery and Development, Harrison School of Pharmacy. She has established a breast cancer genetics research program and is particularly interested in addressing breast cancer disparities through her research. For instance, African American (AA) women have a higher incidence rate of breast cancer under the age of 40 compared to Caucasians.
Considering that an early age of onset is a hallmark of hereditary breast cancer, Dr. Merner has established two protocols (#14-232 and #15-111) to recruit breast cancer individuals/families and identify genetic risk factors; #14-232 involves hospital recruitment through collaboration with East Alabama Medical Center (EAMC), and #15-111 involves community-based recruitment (CBR). Enrollment criteria include individuals (1) diagnosed with breast cancer (at any age) who have a family history or (2) diagnosed with breast cancer under the age of 45 without a family history. At the EAMC, a nurse consents patients identified by oncologists; recruitment began Feb. 11, 2015. CBR targets medically underserved individuals through a mechanism aimed to educate and build trust in the community. Through connections fostered by community-partners (CPs), Dr. Merner travels to rural communities to meet and recruit patients/survivors and their family members; recruitment began March 23, 2015.
All breast cancer probands are screened for known breast cancer susceptibility genes through NGS; specifically, by using an Agilent Technologies Haloplex custom-designed probe capture kit and massively parallel sequencing. This new and innovative gene screening technique will provide great insight into the array of mutations that contribute towards hereditary breast cancer. Families identified as mutation-negative after gene screening are further investigated (through exome sequencing, for example) in order to identify novel breast cancer genes. This effort demonstrates how Dr. Merner plans to contribute to a better understanding of breast cancer genetics and disparities.
It is important to note that Alabama is significantly medically underserved with 61.3 percent of the population having too few primary care providers, high infant mortality, and/or a high poverty rate. Dr. Merner’s research provides an opportunity for Alabamians to participate in a research study that has been designed to inform participants of genetic screening results, if desired. Partnerships with the University of Alabama at Birmingham (UAB) Genetic Counseling Clinic and the Alabama Department of Public Health Division of Video Communications and Distance Learning have been established to offer genetic counseling.
Kahle K*, Merner N*, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb T, Moss S, Medina I, Rouleau GA. Genetically-encoded impairment of KCC2 cotransporter functional regulation in human idiopathic generalized epilepsy. EMBO Reports. 2014. In press: Submission number: EMBOR-2014-38840V1.
Haywood AFM*, Merner ND*, Hodgkinson KA, Houston J, Syrris P, Booth V, Connors S, Pantazis A, Quarta G, Elliott P, McKenna W, Young TL. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in the UK and Canada. European Heart Journal. 2013 Apr;34(13):1002-11.
Hodgkinson KA, Connors SP, Merner N, Haywood A, Young T, McKenna WJ, Gallagher B, Curtis F, Bassett AS, Parfrey PS. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clinical Genetics. 2013 Apr;83(4):321-31.
Parmalee N, Mirzozoda K, Kisselev S, Merner N, Dion P, Rouleau G, Clark L, Louis ED. Genetic Analysis of the FUS/TLS Gene in Essential Tremor. European Journal of Neurology. 2013 Mar;20(3):534-9.
Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon J, Young T-L. A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Human Mutation. 2013 Jan;34(1):66-9.
Merner N, Dion PA, Szuto A, Rouleau GA. Culture, Brain and Analgesia: Understanding and Managing Pain in Diverse Populations. Chapter 25: Insensitivity to pain: lessons from recent genetics advances. Oxford University Press, USA; 1 edition (December, 2012). ISBN-10: 0199768870. ISBN-13: 978-0199768875.
Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K., Ives EJ, Boycott K, Grimes DA,Goobie S, Dion PA, Rouleau GA. VAMP1 Mutation Causes Chromosome 12p13 Hereditary Spastic Ataxia in Newfoundland Families. American Journal of Human Genetics. 2012. Sept 7;91(3):548-552.
Merner ND, Girard SL, Catorie H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levet A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion P, Rouleau G.A. Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor. The American Journal of Human Genetics. 2012. Aug 10;91(2):313-9.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. The axonal transporter of synaptic vesicles KIF1A is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 2011 Aug 12;89(2):219-30.
Merner ND, Dion PA, Rouleau GA. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. Clinical Genetics. 2011 Jan: 79(1): 23–34
Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure. 2009 Sep;18(7):492-7.
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland L, Li XC, Lee M, King MC, Young TL. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. European Journal of Human Genetics. 2009 May;17(5):554-64.
Merner ND*, Hodgkinson KA*, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. American Journal of Human Genetics. 2008 Apr;82(4):809-21.
* These authors contributed equally to this manuscript.
Last Updated: March 7, 2017