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4. Collette Hand

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Biography

• BSc Microbiology, UCC 1994.
  

• PhD Human Molecular Genetics, UCD 1998.
  

• Postdoctoral Research McGill University, Canada, 1998-2002
  

• Lecturer UCC Department of Pathology 2002 - present
  

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Research Interests

Human genetic disease gene mapping. Disorders of interest include Restless Legs Syndrome (RLS), Hereditary Spastic Paraparesis (HSP), Familial Migraine and Periodic Paralysis. My research focus is the genetic investigation of a variety of conditions and focuses on the mapping and identification of human disease genes through the study of families affected by disease. One of the main challenges of this approach is the collection of suitably large families with affected individuals for study. Strong collaborations with clinical colleagues are vital. Identification of novel genes I have been involved in the identification of the causative genes for a number of disorders. We described the gene responsible for a juvenile form of familial amyotrophic lateral sclerosis (ALS) / Motor Neurone Disease (MND) which is a devastating neurodegenerative disorder. I was also involved in the studies to establish the gene responsible for hidrotic ectodermal dysplasia (HED), an autosomal dominant skin disorder characterised by palmoplantar hyperkeratosis, hair defects (from partial to total alopecia), nail hypoplasia and nail deformities. HED occurs worldwide with a very low frequency, but is more common in French-Canadians and so the known founder effect was exploited to identify the causative gene in this and other populations. Identification of novel loci I have been involved in the identification of novel loci for a number of conditions including congenital hereditary endothelial dystrophy (CHED2) which is a rare corneal disorder, a familial ALS locus (ALS3) and a spastic ataxia locus (SAX1). We have identified a novel locus of autosomal dominant restless legs syndrome (RLS) which is the first report in an Irish family. Identification of novel mutations Screening genes for mutations allows the identification of novel mutations which expand the understanding of the disease mechanism and may allow for genotype- phenotype correlations to be developed. This approach has been applied to a number of conditions including familial migraine (ATP1A2 gene), retinitis pigmentosa (RPGR gene), amyotrophic lateral sclerosis (SOD1, ALS2 genes) and hereditary spastic paraparesis (ALS2, PLP, SPG4 genes). Confirmation of diagnosis via gene screening A number of disorders benefit from the detection of a genetic mutation to confirm or support clinical diagnosis. I have recently identified the causative mutation in the first Irish case of Andersen Tawil Syndrome, a rare neurological disorder with a significant cardiac risk in patients. We have also detected the responsible mutation in the first Irish case of Chorea-Acanthocytosis (ChAc), another inherited neurological disorder. Other Disorders I have been involved in studies of the genetic basis of pain response in individuals.I have established studies on the genetics of the ion channel disorder periodic paralyses through strong clinical collaboration. We have undertaken a study to identify the causative mutation in a large Irish family with members affected by Myofibrillar myopathy, a rare neuromuscular disorder with extensive genetic heterogeneity. Cancer genetics More recently, I have established studies on the genetics of specific types of cancer including melanoma, a common skin cancer and glioma, a subtype of brain tumour. In melanoma we are establishing the range and frequency of common gene mutations in tumours as the Irish profile is different from other countries and influences treatment. In glioma we are exploring the retinoic acid pathway to identify factors controlling cell growth which may be exploited to reduce tumour growth and progression. Introduction of Next Generation Sequencing (NGS) into diagnostic clinical setting within Cork University Hospital for the diagnosis and direction of treatment of lung cancer.  Study of death certification during the Covid-19 pandemic study. 
Expertise Molecular genetics including genomic DNA extraction from a variety of sources, PCR amplification, fragment analysis, DNA sequencing (Sanger) and bioinformatics. Whole exome sequence (WES) analysis and Next Generation Sequencing (NGS).

Lab AlumniPhD Students Evelyn Skehan (2005-2010, co-supervised with Prof. Nollaig Parfrey)
MD Students Desiree Fernandez (2004-2005, co-supervised with Prof. Nollaig Parfrey and Dr Brain Sweeney)
MSc Students Manal Abdul Rahim (2004-2005, co-supervised with Prof. Nollaig Parfrey) Cathy Moore (2014), Sean O'Cathain (2018)
Internships / Summer students Eileen Crowley (2002) HRB Summer Studentship, Awarded Poster Prize Michael McCarthy (2003 and 2004) Maria Twomey (2004) HRB Summer Studentship, Awarded Poster Prize Ray Hickey (2005) Jane Cunningham (2007) Claire Crowley (2008) HRB Summer Studentship Edel Fitzpatrick (2008) Grace Neville (2009) Darragh Herlihy (2009) Colin Kenny (2012) HRB Summer Studentship Jessica Neville Wellcome Trust Biomedical Vacation Scholarship (2015), Alicia Andrews (2015), Sarah Harrington (2016), Natalie Krakoski (2019) SURE
Undergraduate students 2003/2004: Rebecca Dennehy, Doireann Lawlor, Eileen Murphy 2004/2005: Therese Brosnan, Mairead Keating, Deirdre King 2005/2006: Yvonne Cronin, Yvonne Hickey, Micheal MacAogain, Maria Twomey 2006/2007: Kate Lynch, Laura Moran, Lucy Sreenan-Sellmeyer, Eric Weimann 2007/2008: Jamie FitzGerald, Jim McCarthy, Brendan O'Connor, Alex Stone 2008/2009: Michelle Gardinar, Lily Keane 2009/2010: Claire Crowley, Nina Hanley, Phillip Williams 2011/2012: Cilian Shanahan, Aisling O'Connor 2012/2013: Anne Hill, Kevin Kavanagh, Jennifer O Leary 2013/2014: Aidan Leahy, Rachel O’Donovan 2014/2015: Aoife Hunter, Emma O’Flynn 2015/16: Hadeel Ismail, Tomas Power. 2016/17: Alison O'Keeffe, Gemma Hayes 2017/18: Christopher Barrett. 2018/19: Emer O'Connell, Barbara Marzario. 2019/20: Aoife Murphy, Sinead Finnegan. 2020/21: Erika Horan. 2021/22: Cathal O'Regan, Lyndsey Coughlan. 2022/23: Rachel O'Carroll

Research Grants

	Project	Funding Body	Start Date	End Date	Award
	Retinoic Acid in Gliomas	Breakthrough Cancer Research	01-OCT-21	30-SEP-24	€119,800.00
	Anatomical and Clinical features of the Macula in Age-related Macular Degeneration and Diabetic Macular oedema	Irish Research Council	01-SEP-22	31-AUG-25	€82,500.00
	Characterisation of gene mutations in Irish melanoma patients	UCC TRAP (Translational Research Access Programme)	01-OCT-17	30-SEP-18	€10,000.00
	Summer Studentship	Foreign Research Institute	29-JUN-15	21-AUG-15	€2,698.00
	Is there a common ancestor for periodic paralysis in Ireland?	Wellcome Trust	29-JUN-15	21-AUG-15	€2,700.00
	A Phenotypic and Genotypic Study of Periodic Paralysis in an Irish Population	UCC TRAP (Translational Research Access Programme)	01-JUN-12		€9,901.00
	HRB Summer Scholarship SS/2012/23 Colin Kenny S: Screening candidate genes for Restless Legs Syndrome in a novel locus idenified in an Irish RLS family.	Health Research Board	04-JUN-12	27-JUL-12	€2,000.00
	HRB Summer Scholarship 2008, Claire Crowley, Screening the SCN5A gene in a suspected case of Long QT syndrome	Health Research Board	01-JUN-08	01-AUG-08
	HRB Summer Scholarship 2004, Maria Twomey, Screening of candidate genes for Restless Legs Syndrome in a newly identified locus	Health Research Board	01-JUN-04	01-AUG-04
	HRB Summer Scholarship 2002, Eileen Crowley, Mapping the Gene for Autosomal Dominant Restless Legs Syndrome	Health Research Board	01-JUN-02	01-AUG-02

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Publications

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Peer Reviewed Journals

	Year	Publication
	(2022)	'Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory' Werner, R;Connolly, A;Bennett, M;Hand, CK;Burke, L (2022) 'Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory'. Journal of Clinical Pathology, [DOI] [Details]
	(2020)	'Mutagenesis by microbe: the role of the microbiota in shaping the cancer genome' Barrett, Maurice; Hand, Collette K.; Shanahan, Fergus; Murphy, Thomas; O’Toole, Paul W. (2020) 'Mutagenesis by microbe: the role of the microbiota in shaping the cancer genome'. Trends In Cancer, 6 (4):277-287 [DOI] [Full Text] [Details]
	(2018)	'Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family' Murphy, O. C.,O'Toole, O.,Hand, C. K.,Ryan, A. M. (2018) 'Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family'. Tremor And Other Hyperkinetic Movements (New York, N.Y.), 8 [DOI] [Full Text] [Details]
	(2017)	'Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree' Hand, C.K.; McGuire, M.; Parfrey, N.A.; Murphy, C.C. (2017) 'Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree'. Ophthalmic Genetics, 38 :148-151 [DOI] [Full Text] [Details]
	(2015)	'Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis' Merwick, A; Mok, T; McNamara, B; Parfrey, NA;Moore, H. ;Sweeney, B. J.; Hand, C. K; Ryan, A. M. (2015) 'Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis'. Movement Disorders Clinical Practice, 2 :86-89 [DOI] [Details]
	(2014)	'Andersen-tawil syndrome with early fixed myopathy' Lefter, S.,Hardiman, O.,Costigan, D.,Lynch, B.,McConville, J.,Hand, C. K.,Ryan, A. M. (2014) 'Andersen-tawil syndrome with early fixed myopathy'. Journal of Clinical Neuromuscular Disease, 16 (2):79-82   [DOI] [Details]
	(2014)	'Expanding the phenotype of Andersen-Tawil Syndrome: first Irish case' Lefter S, Hardiman O, Costigan D, Lynch B, McConville J, Hand CK, Ryan AM (2014) 'Expanding the phenotype of Andersen-Tawil Syndrome: first Irish case'. Journal of Clinical Neuromuscular Disease, 16 (2):79-82 [Details]
	(2012)	'A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree' Skehan, EB;Abdulrahim, MMA;Parfrey, NA;Hand, CK (2012) 'A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree'. Neurogenetics, 13 :125-132 [DOI] [Details]
	(2012)	'A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus' Hand, CK;Bernard, G;Dube, MP;Shevell, MI;Rouleau, GA (2012) 'A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus'. The Canadian Journal of Neurological Sciences, 39 :220-224 [Full Text] [Details]
	(2008)	'A novel ATP1A2 gene mutation in an irish familial hemiplegic migraine kindred' Fernandez, DM;Hand, CK;Sweeney, BJ;Parfrey, NA (2008) 'A novel ATP1A2 gene mutation in an irish familial hemiplegic migraine kindred'. Headache: The Journal of Head and Face Pain, 48 :101-108 [DOI] [Full Text] [Details]
	(2004)	'[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature]' Jafari-Schluep HF, Khoris J, Mayeux-Portas V, Hand C, Rouleau G, Camu W; Groupe Francais d'Etude des Maladies du Motoneurone; (2004) '[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature]'. Revue Neurologique, 160 (1):44-50 [Details]
	(2004)	'A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy' Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ; (2004) 'A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy'. American Journal of Medical Genetics, 15 (131):249-254 [Details]
	(2003)	'Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis' Hand C.;Devon R.;Gros-Louis F.;Rochefort D.;Khoris J.;Meininger V.;Bouchard J.;Camu W.;Hayden M.;Rouleau G. (2003) 'Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis'. Archives of Neurology, 60 (12):1768-1771 [DOI] [Details]
	(2003)	'Novel RPGR mutations with distinct RP phenotypes in French-Canadian families' Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA; (2003) 'Novel RPGR mutations with distinct RP phenotypes in French-Canadian families'. American Journal of Ophthalmology, 136 (4):678-687 [Details]
	(2003)	'Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis' Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard J-P, Camu W, Hayden MR, Rouleau GA; (2003) 'Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis'. Archives of Neurology, 60 (12):1768-1771 [Details]
	(2003)	'Identification of a novel ALS2 gene mutation in a large Pakistani kindred with autosomal recessive infantile onset Hereditary Spastic Paraplegia' Gros-Louis F, Meijer IA, Hand CK, Dubé M-P, MacGregor DL, Seni M-H, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA; (2003) 'Identification of a novel ALS2 gene mutation in a large Pakistani kindred with autosomal recessive infantile onset Hereditary Spastic Paraplegia'. Annals of Neurology, 53 (1):144-145 [Details]
	(2003)	'Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation' Dupré N, Verlaan D, Laurent SB, Hand, CK, Turecki G, Davenport, WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA; (2003) 'Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation'. The Canadian Journal of Neurological Sciences, 30 (2):122-128 [Details]
	(2002)	'A locus for dominant Hereditary Spastic Ataxia, SAX1, maps to Chromosome 12p13' Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA; (2002) 'A locus for dominant Hereditary Spastic Ataxia, SAX1, maps to Chromosome 12p13'. American Journal of Human Genetics, 70 (3):763-769 [Details]
	(2002)	'A novel familial ALS locus on Chromosome 18q' Hand CK, Khoris J, Salachas F, Gros-Louis F, Simões Lopes AA, Mayeux-Portas V, Brown RH Jr, Meininger V, Camu W, Rouleau GA; (2002) 'A novel familial ALS locus on Chromosome 18q'. American Journal of Human Genetics, 70 (1):251-256 [Details]
	(2002)	'Spectrum of SPG4 mutations in a large collection of North American Hereditary Spastic Paraplegia families' Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA; (2002) 'Spectrum of SPG4 mutations in a large collection of North American Hereditary Spastic Paraplegia families'. Archives of Neurology, 59 (2):281-286 [Details]
	(2002)	'Familial amyotrophic lateral sclerosis' Hand CK, Rouleau GA.; (2002) 'Familial amyotrophic lateral sclerosis'. Muscle Nerve, 25 (2):135-159 [Details]
	(2001)	'Compound heterozygous D90A and D96N SOD1 mutations in a recessive ALS family' Hand CK, Mayeux-Portas, V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau, GA.; (2001) 'Compound heterozygous D90A and D96N SOD1 mutations in a recessive ALS family'. Annals of Neurology, 49 (2):267-271 [Details]
	(2001)	'Reply' Hand CK, Mayeux-Portas, V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau, GA.; (2001) 'Reply'. Annals of Neurology, 50 (4):554-554 [Details]
	(2001)	'A founder mutation in French-Canadian families with X-linked hereditary neuropathy' Dupré N, Cossette L, Hand CK, Bouchard J-P, Rouleau GA, Puymirat J.; (2001) 'A founder mutation in French-Canadian families with X-linked hereditary neuropathy'. The Canadian Journal of Neurological Sciences, 28 (1):51-55 [Details]
	(2001)	'A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 ' Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata, J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda, J-E ; (2001) 'A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 '. Nature Genetics, 29 (2):166-173 [Details]
	(2000)	'Mutations in GJB6 cause hidrotic ectodermal dysplasia' Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G ; (2000) 'Mutations in GJB6 cause hidrotic ectodermal dysplasia'. Nature Genetics, 26 (2):142-144 [Details]
	(1999)	'Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct' Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.; (1999) 'Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct'. British Journal of Ophthalmology, 83 (1):115-119 [Details]
	(1999)	'Homozygosity Mapping and linkage analysis demonstrate that Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED) and Autosomal Dominant CHED are genetically distinct' Callaghan M,Hand CK, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA; (1999) 'Homozygosity Mapping and linkage analysis demonstrate that Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED) and Autosomal Dominant CHED are genetically distinct'. British Journal of Ophthalmology, 83 (1):115-119 [Details]
	(1999)	'Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping' Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.; (1999) 'Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping'. Genomics, 61 (1):1-4 [Details]
	(1999)	'Localisation of the gene for Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) to chromosome 20 by Homozygosity Mapping' Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA ; (1999) 'Localisation of the gene for Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) to chromosome 20 by Homozygosity Mapping'. Genomics, 61 (1):1-4 [Details]

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Conference Publications

	Year	Publication
	(2023)	Royal College of Physicians of Ireland, Faculty of Pathology Symposium Twomey J, Werner R, Connolly A, Hand CK, Burke L (2023) Clinical Application of Next Generation Sequencing (NGS): An undergraduate medical student’s perspective Royal College of Physicians of Ireland, Faculty of Pathology Symposium Dublin, , 09-FEB-23 - 10-FEB-23 [Details]
	(2022)	Irish Association of Cancer Research (IACR) Flynn P, Jansen M, Birmingham N, Hand C, Toulouse A (2022) A Bioinformatics Approach Highlights the Potential of Retinoids in Glioblastoma Growth Regulation Irish Association of Cancer Research (IACR) The Radisson Hotel, Little Island, Co Cork, , 31-MAR-22 - 01-APR-22 [Details]
	(2022)	Pulmonary Pathology Society Biennial Meeting Werner R, Connolly A, Bennett WM, Hand CK, Burke L (2022) Implementation of ISO15189 accredited Next Generation Sequencing for NSCLC on the novel Ion Torrent Genexus™️ in a clinical diagnostic laboratory Pulmonary Pathology Society Biennial Meeting Cork, , 25-JUN-22 - 27-JUN-23 [Details]
	(2022)	Irish Association of Cancer Research (IACR) Werner R, Connolly A, Bennett WM, Hand C, Burke L (2022) Implementation of an ISO15189 accredited Next Generation Sequencing service with the Ion Torrent Genexus™️: The experience of a clinical diagnostic laboratory Irish Association of Cancer Research (IACR) The Radisson Hotel, Little Island, Co Cork, , 31-MAR-22 - 01-APR-22 [Details]
	(2022)	Cancer Research UK, Brain Tumour conference Flynn P, Hand C, Toulouse A (2022) A Bioinformatics Approach Highlights the Potential of Retinoids in Glioblastoma Growth Regulation Cancer Research UK, Brain Tumour conference London, , 05-SEP-22 - 07-SEP-22 [Details]
	(2020)	USCAP (US and Canada Academy of Pathology) Grace Neville, Barbara Marzario, David Shilling, Collette Hand, Cynthia Heffron (2020) The Irish curse? Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma USCAP (US and Canada Academy of Pathology) Los Angeles, CA, USA, , 28-FEB-20 - 05-MAR-20 [Details]
	(2019)	British Neuroscience Association 2019 Patricia Flynn, Collette Hand, Niamh Birmingham, Michael Jansen, André Toulouse (2019) The Role of Retinoids in the Treatment of Glioma British Neuroscience Association 2019 Convention Centre, Dublin, Ireland, , 14-APR-19 - 17-APR-19 [Details]
	(2019)	New Horizons Conference 2019 Patricia Flynn, André Toulouse, Niamh Birmingham, Michael Jansen, Collette Hand (2019) Retinoic Acid Receptor Specificity in Glioma Growth Suppression New Horizons Conference 2019 UCC, Cork, Ireland, , 05-DEC-19 [Details]
	(2019)	Irish Society of Human Genetics Annual Meeting 2019 Patricia Flynn, André Toulouse, Niamh Birmingham, Michael Jansen, Collette Hand (2019) Retinoic Acid Receptor Specificity in Glioma Growth Suppression Irish Society of Human Genetics Annual Meeting 2019 Queens University Belfast, , 20-SEP-19 - 20-SEP-19 [Details]
	(2018)	Faculty of Pathology Annual Symposium 2018 B Marzario, G Neville, CK Hand, CCBB Heffron (2018) An epidemiological study of invasive cutaneous malignant melanoma in an Irish cohort Faculty of Pathology Annual Symposium 2018 Dublin, Ireland, , 01-FEB-18 - 01-FEB-18 [Details]
	(2018)	New Horizons Conference 2018 B Marzario, G Neville, CK Hand, CCBB Heffron (2018) An epidemiological study of invasive cutaneous malignant melanoma in an Irish cohort New Horizons Conference 2018 UCC, Cork, Ireland, , 06-DEC-18 - 06-DEC-18 [Details]
	(2017)	ICHAMS (International Conference for Healthcare and Medical Students) 2017 Harrington SE, O’Sullivan B, Shilling DA, McNamara B, Ryan AM, Hand CK (2017) A Clinical and Genetic Study of Myofibrillar Myopathy ICHAMS (International Conference for Healthcare and Medical Students) 2017 RCSI, Dublin, Ireland, , 16-FEB-17 - 18-FEB-17 [Details]
	(2017)	UCC Student Surgical Conference Harrington SE, O’Sullivan B, Shilling DA, McNamara B, Ryan AM, Hand CK (2017) A Clinical and Genetic Study of Myofibrillar Myopathy UCC Student Surgical Conference UCC, Cork, Ireland, , 27-JAN-17 - 28-JAN-17 [Details]
	(2016)	New Horizons conference 2016 Harrington SE, O’Sullivan B, Shilling DA, McNamara B, Ryan AM, Hand CK (2016) A Clinical and Genetic Study of Myofibrillar Myopathy New Horizons conference 2016 UCC, Cork, Ireland, , 08-DEC-16 - 08-DEC-16 [Details]
	(2015)	Irish Society of Human Genetics Annual Meeting Neville J, Shilling DA, Ryan AM, Hand CK (2015) Do Irish periodic paralysis patients have a common genetic origin? Irish Society of Human Genetics Annual Meeting Dublin City University, , 04-SEP-15 - 04-SEP-15 [Details]
	(2015)	New Horizons Conference 2015 Neville J, Shilling DA, Ryan AM, Hand CK (2015) Do Irish periodic paralysis patients have a common genetic origin? New Horizons Conference 2015 UCC, Cork, Ireland, , 10-DEC-15 - 10-DEC-15 [Details]
	(2015)	Irish Society of Human Genetics Annual Meeting Neville J, Shilling DA, Ryan AM, Hand CK (2015) Do Irish periodic paralysis patients have a common genetic origin? Irish Society of Human Genetics Annual Meeting Dublin City University, , 04-SEP-15 - 04-SEP-15 [Details]
	(2005)	CEPHALALGIA Fernandez, DM and Hand, CK and Sweeney, BJ and Parfrey, NA (2005) Familial hemiplegic migraine is linked to the FHM2 locus in an Irish pedigree CEPHALALGIA , pp.854-855 [Details]
	(2014)	UCC School of Medicine Horizons conference Hand CK.Ryan AM, (2014) A Phenotypic and Genotypic Study of Periodic Paralysis in an Irish Population UCC School of Medicine Horizons conference [Details]
	(2010)	United States and Canadian Society of Pathology Annual Meeting Evelyn B. Skehan, Manal Abdulrahim, Nollaig A Parfrey Collette K Hand. (2010) A novel locus for Autosomal Dominant Restless Legs Syndrome United States and Canadian Society of Pathology Annual Meeting Washington, DC, USA, , 20-MAR-10 - 26-MAR-10 , pp.392A-392A [Details]
	(2010)	European Society of Human Genetics Meeting, 2010 EB Skehan, MMA Abdulrahim, NA Parfrey and CK Hand. (2010) Identification of a novel locus for autosomal dominant Restless Legs Syndrome in an Irish Pedigree European Society of Human Genetics Meeting, 2010 Gothenburg, Sweden, , 12-JUN-10 - 15-JUN-10 [Details]
	(2009)	Irish Society of Human Genetics Annual Meeting, 2008 Kelly SB, Parfrey NA, Ryan AM, Hand CK. (2009) Phenotype and Genotype analysis of Familial Periodic Paralysis in Irish Families Irish Society of Human Genetics Annual Meeting, 2008 St James’ Hospital Dublin, , 12-SEP-08 - 12-SEP-08 , pp.74-74 [Details]
	(2008)	Irish Society of Human Genetics Annual Meeting, 2007 Evelyn B. Skehan, Manal Abdulrahim, Collette K. Hand, Nollaig A. Parfrey (2008) Absence of Linkage to Known Loci In An Irish RLS Family Irish Society of Human Genetics Annual Meeting, 2007 Belfast City Hospital, Belfast, , 24-SEP-07 - 24-SEP-07 [Details]
	(2007)	European Society of Regional Anaesthesia and Pain Therapy (ESRA), 2007 O.T. Hickey, G.D. Shorten, S. Burke1, P. Hafeez, A. Mudrakouski, C. Keohane, N.A. Parfrey, C. Hand, D. Shilling, M. Butler, I. Hayes (2007) Outcome Following Lumbar Discectomy- Associations with changes on quantitative sensory testing, mental status, no index and the A118G Mu-Opioid polymorphism European Society of Regional Anaesthesia and Pain Therapy (ESRA), 2007 Valencia, Spain, , 11-SEP-07 - 15-SEP-07 [Details]
	(2007)	European Society of Human Genetics Annual Meeting, 2007 Skehan EB, Abdulrahim M, Hand CK, Parfrey NP (2007) Evidence for Further Genetic Heterogeneity in Restless Legs Syndrome European Society of Human Genetics Annual Meeting, 2007 Nice, France, , 16-JUN-07 - 19-JUN-07 [Details]
	(2007)	Irish Society of Human Genetics Annual Meeting, 2007 Evelyn B. Skehan, Manal Abdulrahim, Collette K. Hand, Nollaig A. Parfrey (2007) Absence of Linkage To Known Loci In An Irish RLS Family Irish Society of Human Genetics Annual Meeting, 2007 Belfast, Northern Ireland, , 24-SEP-07 - 24-SEP-07 [Details]
	(2007)	American Society of Anaesthesiologists, October 2007 Ciaran Twomey, Gabriella Iohom, Crina Burlacu, Collette Hand, George Shorten. (2007) ε4 Allele of Apolipoprotein E Gene – Potential Determinant of Postoperative Cognitive Dysfunction American Society of Anaesthesiologists, October 2007 San Franciso, USA, , 01-OCT-07 - 02-OCT-07 [Details]
	(2005)	12th Congress of the International Headache Society Fernandez DM; Hand CK; Sweeney BJ; Parfrey NA; (2005) Familial Hemiplegic Migraine is linked to the FHM2 locus in an Irish Pedigree 12th Congress of the International Headache Society Kyoto, Japan, [Details]
	(2005)	Irish Neurological Association Meeting, Dublin Fernandez, DM; Hand CK; Sweeney BJ; Parfrey NA; (2005) Familial Hemiplegic Migraine is linked to the FHM2 locus in an Irish Pedigree Irish Neurological Association Meeting, Dublin [Details]
	(2004)	United States and Canadian Academy of Pathology Meeting, 2004 Nollaig A Parfrey, Patrick Kelly, Vanessa Collins, Collette K Hand. (2004) Mapping the Gene for Autosomal Dominant Restless Legs Syndrome United States and Canadian Academy of Pathology Meeting, 2004 Vancouver, Canada, , 06-MAR-04 - 12-MAR-04 [Details]
	(2003)	Canadian Genetic Disease Network Annual Scientific Meeting, 2003 Devon RS, Gros-Louis F, Hand CK, Meijer I, Helm JR, Davidson T, Munro L, Rogers D, Simpson EM, Leavitt BR, Rouleau GA, Hayden MR (2003) Investigation of the Role of the Putative GTPase Activator Alsin in the Pathogenesis of ALS2 and Related Spastic Paraplegias Canadian Genetic Disease Network Annual Scientific Meeting, 2003 Kanasaskis, Alberta, Canada, , 15-MAY-03 - 18-MAY-03 [Details]
	(2003)	Association for Research in Vision and Ophthalmology (ARVO) Meeting 2003 G. Li, M. Loyer, I. Lopez, H. Chakor, C. Hand, R. Polomeno, J. Racine, P. Lachapelle, G. Rouleau and R.K. Koenekoop (2003) In vivo Functional Analyses of Retinal Function by Multifocal Electroretinography in Unrelated Carriers of XRRP with the Same 2 Basepair Deletion in ORF15 of RPGR (2281_2282 del GG) Association for Research in Vision and Ophthalmology (ARVO) Meeting 2003 [Details]
	(2003)	Canadian Genetic Disease Network Annual Scientific Meeting 2003 Meijer I, Hand CK, Grewal KK, Ives EJ, Stefanelli MG, Rouleau GA. (2003) Searching for the gene responsible for dominant Hereditary Spastic Ataxia, SAX1 Canadian Genetic Disease Network Annual Scientific Meeting 2003 Kanasaskis, Alberta, Canada, , 15-MAY-03 - 18-MAY-03 [Details]
	(2002)	European Society of Human Genetics Annual Meeting Hand CK, Dubé MP, Shevell M, Rouleau GA (2002) A novel PLP mutation in X-linked hereditary spastic paraplegia (SPG2) further broadens the extent of heterogeneity at this locus European Society of Human Genetics Annual Meeting Strasbourg, France, , 25-MAY-02 - 29-MAY-02 [Details]
	(2002)	Association for Research in Vision and Ophthalmology (ARVO) Meeting 2002 R Koenekoop, M Loyer, C Hand, H Al Mahdi, M Papaioannou, O Dembinska, J Racine, S Bhattacharya and G Rouleau (2002) Molecular Studies of French Canadian Retinitis Pigmentosa Patients: Linkage analyses and Genotype-Phenotype Studies of a Genetic Isolate Association for Research in Vision and Ophthalmology (ARVO) Meeting 2002 [Details]
	(2001)	American Society of Human Genetics Meeting 2001 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives, G.A. Rouleau (2001) A locus for dominant Hereditary Spastic Ataxia American Society of Human Genetics Meeting 2001 [Details]
	(2001)	American Society of Human Genetics Meeting 2001 K.K. Grewal, M.G. Stefanelli, I.A. Meijer, C.K. Hand, G.A. Rouleau, E.J. Ives. (2001) Evidence for a common ancester in 2 large families with phenotypically variable spastic ataxia American Society of Human Genetics Meeting 2001 [Details]
	(2000)	International Symposium on ALS/MND Hand CK, Mayeux-Portas, V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau, GA. (2000) Compound heterozygous D90A and D96N SOD1 mutations in a recessive ALS family International Symposium on ALS/MND Århus, Denmark, , 04-DEC-01 - 06-DEC-01 [Details]
	(2000)	American Epilepsy Society, 54th Annual Meeting Los Angeles, USA Brisebois K., Cossette P., Hand C.K., Toulouse A., Andermann E., Berkovic S.F., Andermann F., Faught E., Kuzniecky, R.I., Donaldsen J.O., Leonberg S.C., Rouleau G.A. (2000) Adult Neuronal Ceroid Lipofucinosis with autosomal dominant transmission (Kuf's disease):suggestion of linkage at the CLN2 locus American Epilepsy Society, 54th Annual Meeting Los Angeles, USA Los Angeles, USA, , 01-DEC-01 - 06-DEC-01 [Details]
	(1999)	United States and Canadian Academy of Pathology Annual Meeting C.K. Hand, D.L. Harmon, S.M. Kennedy, J.S. FitzSimon, L.M.T. Collum, and N.A. Parfrey. (1999) The autosomal recessive congenital hereditary endothelial dystrophy (CHED) gene is mapped to chromosome 20p by homozygosity mapping United States and Canadian Academy of Pathology Annual Meeting [Details]
	(1998)	Irish Society of Human Genetics Meeting Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. (1998) Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. The Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED) gene is mapped to Chromosome 20p by Homozygosity Mapping. Irish Society of Human Genetics Meeting. University College Dublin, Ireland. 11-12th September 1998 Irish Society of Human Genetics Meeting University College Dublin, Ireland, , 11-SEP-99 - 12-SEP-99 [Details]
	(1997)	United States and Canadian Society of Pathology Annual Meeting Hand C, Callaghan M, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. (1997) Autosomal recessive congenital hereditary endothelial dystrophy (CHED) is not linked to the autosomal dominant CHED locus on chromosome 20 United States and Canadian Society of Pathology Annual Meeting [Details]
	(1997)	European Society of Human Genetics Hand C, Callaghan M, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA. (1997) Use of a DNA pooling approach to homozygosity mapping demonstrates that autosomal recessive congenital hereditary endothelial dystrophy (CHED) is genetically distinct from autosomal dominant CHED European Society of Human Genetics Genoa, Italy, , 17-MAY-97 - 20-MAY-97 [Details]
	(1996)	National Scientific and Medical Meeting Hand C, Callaghan M, Kennedy SM, FitzSimon JS, Collum LMT, Parfrey NA (1996) Homozygosity mapping indicates congenital hereditary endothelial dystrophy (CHED) is not linked to an identified corneal dystrophy locus National Scientific and Medical Meeting [Details]

‍

Professional Activities

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Honours and Awards

	Year	Title	Awarding Body
	1995	UCD Postgraduate Open Scholarship
	1998	Young Investigator Award for Best Presentation	Irish Society Of Human Genetics Scientific Meeting 1998

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Professional Associations

	Association	Function	From / To
	Irish Society for Human Genetics	Member since 1998; Committee member since 2006; Honorary Secretary (2007- 2009); President (2009-2011)	01-MAR-98 /
	Neuroscience Ireland	Member	01-SEP-06 /
	European Society of Human Genetics	Member	01-JAN-06 /
	European Restless Legs Syndrome Study Group (EURLSSG)	Member	01-DEC-14 /

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Committees

	Committee	Function	From / To
	Academic Development and Standards Committee (ADSC)	CoMH Representative	2021 /
	Academic Council	Non-Professorial CoMH nominee	2021 /
	Academic Council Graduate Studies Committee (ACGSC)	CoMH Representative (2019- ), Deputy Chair (2023- )	2019 /
	College of Medicine and Health Graduate School Committee	School/ACGSC Representative, Deputy Chair (2022- )	2016 /
	College of Medicine and Health Teaching and Curriculum Development Committee	School Representative	2016 /
	School of Medicine Research and Postgraduate Affairs Committee (RPAC)	Co Chair, Lead for Postgraduate Affairs	2016 /
	School of Medicine Curriculum Committee (Undergraduate)	Department Representative	2012 / 2022
	BSc Medical and Health Sciences Board of Studies	Department Representative	2018 /
	BSc Biomedical Sciences Board of Studies	Department Representative	2003 /
	Dental School Teaching and Curriculum Committee	Department Representative	2018 /
	Departmental Graduate Studies Committee	Chair	2006 /
	MSc Biomedical Sciences Board of Studies	Department Representative (2005-15), Deputy Director (2010-12), Director (2012-14)	2005 / 2015
	Postgraduate Affairs Commitee, Medical School	Departmental Representative	2004 / 2016
	Irish Society of Human Genetics	UCC Representative (2006-11), Hon Secretary (2007-09), President (2009-11)	2006 / 2011

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Employment

	Employer	Position	From / To
	UCD, Dublin	Postgraduate Student	01-OCT-94 / 01-JUL-98
	McGill University, Montreal, Canada	Postdoctoral Scientist	08-OCT-98 / 15-FEB-02
	UCC Department of Pathology	College Lecturer	01-MAR-02 /

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Education

	Year	Institution	Qualification	Subject
	1994	University College Cork	BSC (HONS)	Microbiology
	1998	University College Dublin	PHD	Pathology
	2006	University of British Columbia	Certificate	Bioinformatics
	2009	University College Cork	DIPLOMA	Teaching and Learning in Higher Education
	2008	University College Cork	Certificate	Teaching and Learning in Higher Education

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Languages

	Language	Reading	Writing	Speaking
	English	Fluent	Fluent	Fluent
	French	Functional	Functional	Functional

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Outreach Activities

	Description
	The European Society of Human Genetics (ESHG) runs an annual competition inviting high school students to submit an essay or video on a topic in genetics. I have acted as a judge in this competition since 2014. https://www.dnaday.eu/640.0.html
	Cell EXPLORERS is a science outreach and public engagement programme. I joined the UCC branch in September 2019. Participate in hands-on workshops on science and DNA extraction for primary school children.

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Journal Activities

	Journal	Role	To / From
	Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration	Referee	-
	Orphanet Journal Of Rare Diseases	Referee	-
	Neuronal Signaling	Referee	-
	Scientific Reports	Referee	-
	Clinical Genetics	Referee	-

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Teaching Activities

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Teaching Interests

I contribute to teaching and examining  medical, dental, biomedical science, medical and health sciences and genetics students.  
** indicates module which I co-ordinate  

UNDERGRADUATE TEACHING  
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Recent Postgraduates

	Graduation Year	Student Name	Institution	Degree Type	Thesis Title
	2022	Belen O'Shea	University College Cork	MSc	The role of the MAPK / ERK pathway in glioblastoma cell response
	2021	Maurice Barrett	UCC	PHD	Investigating the links between colorectal cancer associated microbiota profiles and the genetic landscape of neoplastic tissue.
	2021	Patricia Flynn	NUI (UCC)	MSc	The Role of Retinoic Acid Receptors in Glioma.
	2021	Mark Walsh	University College Cork	MSc	Deciphering the role of retinoic acid receptor isoforms upon treatment with retinoids in glioblastoma
	2018	Sean O'Cathain	University College Cork	MSc Bioinformatics	Whole Exome Sequence Analysis in Restless Legs Syndrome
	2014	Cathy Moore	University College Cork	MSc Bioinformatics	Use of Bioinformatics Tools to Prioritise Candidate Genes for Mutation Screening
	2011	Evelyn Skehan	NUI (UCC)	PHD	Mapping the Gene for Autosomal Dominant Restless Legs Syndrome in an Irish Family
	2009	Desiree Fernandez	UCC	MD	Genetics of Familial Hemiplegic Migraine in a large Irish Pedigree
	2009	Susan White	UCC	MSc Biomedical Science	Screening of an Irish cohort of patients with colorectal cancer for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) using analysis of mismatch repair proteins
	2009	Sinead Carey	UCC	MSc Biomedical Science	The Exploration of the Properties and Functions of Mucus Producing Epithelium in Normal Colon and Colonic Polyps.
	2008	Manal Abdulrazzaq Abdulrahim	UCC	MSc	Gene Mapping and Candidate Gene Analysis in Autosomal Dominant Restless Legs Syndrome
	2007	Carol Higgins	UCC	MSc Biomedical Science	The Detection of Antibodies to Gliadin-Derived peptides in the Diagnosis of Coeliac Disease.
	2007	Aderanti Motunrayo Morenigbade	UCC	MSc Biomedical Science	Stereological Evaluation of Placental Terminal Villi in the Factor V Leiden Mutation

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Current Postgraduate Students

	Student	Degree Type
	Flynn Patricia Margaret	Doctoral Degree
	Werner Réiltín	Doctoral Degree

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Research Information

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Internal Collaborators

	Name	Institute	Country
	Dr Aisling Ryan	UCC and CUH Neurology	IRELAND
	Dr Cynthia Heffron	Cork University Hospital	IRELAND
	Dr André Toulouse	UCC Department of Anatomy & Neuroscience	IRELAND
	Professor Louise Burke	UCC and CUH Pathology	IRELAND

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External Collaborators

	Name	Organisation / Institute	Country
	Professor Conor Murphy	Royal College of Surgeons in Ireland, Royal Victoria Eye and Ear Hospital	IRELAND
	Dr Tom Nolis	Hunter Area Pathology Services, and University of Newcastle	AUSTRALIA
	Professor Rodney Scott	Director of Genetics, Hunter Area Pathology Services, and University of Newcastle	AUSTRALIA