Professor Dhavendra Kumar, MBBS, MD, DCH (RCPSI), MMedSci., DABMG, PGCME, FRCPI, FRCP, FRCPCH, FACMG, DSc (Hon)

Profile

Special interests in clinical genetics include genetic diseases of children, rare genetic disorders, inherited conditions of heart and blood vessels, genomic and precision medicine and genomic applications in healthcare.

Author/Editor of several genetic/genomic books and journals.

Founder-Chair of the Global Consortium for Genomic Education (GC4GE), Global Familial Heart Challenge (GFHC), and UK India Genomic Medicine Alliance (UKIGMA).

Research

Current 

• Phenotype - Genotype ontology in cardiovascular medicine
• Molecular heterogeneity in chronic heart failure

Past 

• Aortic dilation prevention by Irbesartan in Marfan Syndrome (AIMS)
  Lead investigator for Wales in this BHF funded multi-centre clinical trial coordinated by the Royal Brompton Hospital, London.
• Genomic profiling in chemotherapy-related cardiomyopathy
  This study aims to carry out genomic profiling in chronic heart failure due to chemotherapy-related cardiomyopathy using next-generation sequencing methods.
• Molecular autopsy in sudden cardiac deathA collaborative multi-centre study with ‘The Heart Hospital’, London to explore the utility of molecular autopsy in assisting coroners in establishing the cause of unexplained sudden death.
• Unmet needs of families in Wales affected by sudden arrhythmic death syndrome (SADS): A focus group and interview study
  This study aims at studying to identify unmet information and support needs of families across Wales who have experienced a sudden unexplained death in a close family member. Part of higher degree (D. Ed) thesis, the University of Bristol, UK.
• Molecular heterogeneity of ion channel genes in sudden arrhythmic death syndrome (SADS)
  This study is focussed on extending molecular analysis in affected patients with SADS including whole-genome sequencing.
• Family and community experiences of sudden unexplained/cardiac death including the role of coroner
  Funded by the UK Education and Social Research Council (ESRC) and the Sudden Arrhythmic Death Syndrome (SADS-UK), charity; Centre for social and economic applications of genomics (Cesagen), Cardiff University, UK; this work is included in the Thesis for PhD, Cardiff University- conferred in July 2017.

Key Publications

Theses (Total=3)

• MD (Paediatrics), King George’s Medical College, University of Lucknow, India 1977.    
• Kumar D: ‘The Indian subcontinent and genetic disorders: An introduction’.  
• M Med Sci. (Research-Medical Genetics) University of Sheffield 1987,  “Genetic studies in hereditary cerebellar ataxia and related disorders”
• Doctor of Science (D.Sc.), King George’s Medical University, Lucknow, UP, India, 2015, “Clinical and Genetic Heterogeneity of Human Inherited Disease- Personal Observations and Interpretations”

Book chapters (Total=58)

1. Genetic Disorders of the Indian Subcontinent [Kluwer-Springer Academic, The Netherlands, 2004]. I have edited this reference book to cover various aspects of genetic variation and genetic diseases among people from the Indian subcontinent. Several authors from India, UK and other countries have contributed various chapters.

In addition to editing the book, I wrote the following chapters:

• Kumar D: ‘The Indian subcontinent and genetic disorders: An introduction’. “A study of plasma and cerebrospinal fluid electrolytes in certain childhood neurological disorders with special reference to magnesium”   
• Ishwar C Verma and Dhavendra Kumar: ‘Epidemiology of genetic diseases in the Indian Subcontinent’
• Kumar D: ‘Congenital developmental anomalies’.
• Dhavendra Kumar, Michael Patton, Ajith Kumar: ‘Genetic neurological and psychiatric disorders’.
• Sanjay S Madan, James A Fernandes and Dhavendra Kumar: ‘Inherited skeletal dysplasias and collagen diseases’.     
• Dhavendra Kumar, Carani B Sanjeevi, V. Radha and V. Mohan: ’Diabetes mellitus and related disorders’.
• Kumar D: ‘Genetic counselling for families from the Indian subcontinent’.
• Kumar D: ‘The genetics of cancer-the Indian subcontinent perspective’

2. Genomics and Clinical Medicine [Oxford Univ. Press, 2007]

This is a multi-author edited textbook largely focussing on applications of genome science and technology in clinical medicine and population/public health.

The book includes sections on general genomics, clinical genomics and health genomics. Several leading experts have contributed chapters. My own contribution in the book includes the following chapters/ sections. The book offered my excellent opportunity for editing the book.

Preface

• Genomic perspectives of human development
• A taxonomy for human disease- genetics and genomics approaches
• Clinical medicine in the genomic era- an introduction
• Neuropsychiatric diseases II: Affective disorders
• Genomics and global health (Co-author, Prof. David Weatherall)
• Glossary (compiled from various sources)

3. Principles and Practice of Clinical Cardiovascular Genetics (Oxford Univ. Press, 2010)

This is a joint project with Dr. Perry Elliott, Reader/Consultant in Inherited Heart Disease at the Heart Hospital, University College Hospital, London. Apart from planning and editing, I co-authored the following chapters in this book:

• Challenges of clinical cardiovascular genetics- an Introduction
• The classification of inherited cardiovascular conditions
• Thoracic and abdominal aortic aneurysms

4. Oxford Handbook of Inherited Cardiac Disease (Oxford Univ. Press 2011)

• Introduction to clinical cardiovascular genetics
• Genetic testing and genetic screening
• Congenital Heart Disease
• Cardiovascular manifestations in chromosomal abnormalities
• Inherited connective tissue disorders
• Mitochondrial heart disease

5. Genomics and Health in Developing World (Oxford Univ. Press, 2012)

• The genomic map of population diversity in Asia
• Transcultural perspectives of genetics and genomics
• Transgenic foods and the nutritional status of developing countries
• The burden of congenital anomalies on global health
• The Indian subcontinent and its people
• Familial cancer and cancer genetics in the Indian subcontinent

6. Genomic and Molecular Medicine, Morgan and Claypool, USA (2012-contd)

• The molecular biology of chronic heart failure

7. Genomic Medicine - Principles & Practice, Oxford University Press, NY, 2014

• Genes, genome and human health- Introduction
• Genes, genome and human malformations
• Mendelian and mitochondrial genetics
• Genetic and genomic basis of clinical practice: an introduction
• Genetic and genomic basis of the classification of human Disease
• Genomic applications in Clinical Pediatrics
• The genetic and genomic practice of reproductive medicine

8. Medical and Health Genomics, Elsevier, 2016

• Preface
• The Human Genome
• Medical and Health Aspects of Genetics and Genomics
• Genetics and Genomics of Reproductive Medicine and Health
• Stratified and Precision Medicine
• Glossary: Medical and Health Genomics

9. Genomics and Society, Elsevier, 2016

• Preface - Introduction to Social and Economic Genomics
• Socioeconomic outcomes of genomics in the developing world
• Glossary: ‘Genomics and Society'

10. Cardiovascular Genomics - Principles and Clinical Practice, Springer Nature, 2018

• Preface
• Introduction to genes, genome, genetics, and inheritance patterns
• Glossary- Cardiovascular Genomics

11. Clinical Molecular Medicine - Principles and Practice, Academic Press, Elsevier, December 2019

• The human genome and molecular medicine
• Molecular medicine of diabetes mellitus
• Molecular biology of acute and chronic inflammation
• Gene, genome, and molecular therapeutics
• Integrated genomic and molecular medicine
• Glossary—molecular medicine

Chapters in other books (Total=3)

• Kumar D, Clark J W, Blank C E: Acrocephalosyndactyly and fragile site 12q13  segregating in the same family. In ‘Recent Trends in Medical Genetics’(Eds.K.M.Marumuthu, P.M. Gopinath) Pergaman Press, Oxford1986
• Kumar D: Grebe Syndrome. In “BirthDefects Encyclopaedia”. Ed. Mary Louise Bruyse. Alan R. Liss  Inc.New York, 1990.
• Kumar D: Moebius syndrome  In  “Congenital  Malformations” Eds.D.Donnai and R.Winter, Chapman and Hall, London, 1995.
• Gray R G F, Kumar D, Whitfield A E, Glycogen Phosphorylase b  Kinase deficiency in three siblings. J. Inherited Metabolic Disease, 1983, 6, 107

Peer-reviewed articles & papers (Total=55)

• Kumar D, Curtis D, and Blank C E, Grebe Chondrodysplasia and Brachydactyly in a family. Clinical Genetics 1984, 25(1), 68-72                    
• Blank C E, Kumar D, Johnson M. Multivitamins and prevention of Neural Tube Defects: A need for detailed counselling. Lancet 1984, February 4, 291
• Kumar D Genetics of Indian Childhood Cirrhosis. Tropical and Geographic Medicine 1984, 36, 313-316
• Barnes ICS, Kumar D, Bell R J  M. A child with recombinant of chromosome 8 inherited from her carrier mother.  Journal Medical Genetics, 1985, 22(1), 67-70
• Gray RGF and Kumar D. Mitochondrial  Malic enzyme in Friedreich’s Ataxia –Failure to demonstrate reduced activity in cultured fibroblasts. J.NeurNeurosurgPsych.Jan1985, 48(1),70-74.
• Kumar D, Blank C E, Griffiths B L. Cornelia de  Lange syndrome in several members of the same family.  Journal Med Genet 1985, 22:296-300
• Kumar D, Blank C E, Gelsthorpe K. Hereditary  Cerebellar Ataxia and Genetic Linkage with HLA.  Human Genetics   1986, 72: 327-332
• Kumar D and Blank C E. Hereditary Spinocerebellar Ataxia and genetic linkage with HLA.  Journal Medical Genetics, 1984, 21, 301
• Kumar D, Clark J W, Blank C E, Patton M A. A  family with Craniofrontonasal dysplasia and fragile site    12q13  segregating independently.   Clin Genetics, 1986, 29(6): 530-537
• Kumar D, Levick  R    K.  Autosomal dominant onychodystrophy and anonychia and brachydactyly type ‘B’ with ectrodactyly. Clin Genetics, 1986, 30: 219-225.
• Kumar D, Heath P R and Blank C E.  Clinical manifestations of trisomy 5q  J.Medical Genetics, 1987, 24(3): 180-184
• Kumar D,  Papiha  S  S,  Gelsthorpe  K.   Cell-mediated immunological status and association of genetic markers in Hereditary Cerebellar Ataxia.  Disease Markers 1987, 5: 31-41
• Kumar D.  Genetic aspects of congenital cerebellar ataxia: Ind. J. Pediatrics 1986, 53:  761-773
• Kumar D,   Timperley   W   R.    Neurilemmomatosis and Neurofibromatosis  Syndrome  Ind.  Journal  Pediatrics 1985, 52:523-526
• Kumar D, Timperley W. Late-onset sporadic Cerebellar Ataxia: The clinical,  genetic and pathological aspects of some observations on a series of ten patients.  Acta  Neurol. Scand. 1988 77:181-186.   
• Hurst J, Mankiewicz M, Kumar D, Winter R M. Hirschsprung’s disease, microcephaly and  Iris coloboma.   A new syndrome of defective neuronal migration Journal Med.  Genetics, 1988,25: 494-500.
• Kumar D Syndrome of the Month: Moebius  syndrome  J.Med Genet 1990, 27:122-126
• Nour S, Kumar D, Dickson J A. Anorectal malformations with sacral bony abnormalities.   Archives of   Disease   in Childhood, 1989, 64: 1618-1620
• Kumar D  Late-onset Spinocerebellar Ataxia of  possible  X-linked   recessive  inheritance   Brain  dysfunction,  1989,2(5): 268-272
• Kumar D, Blank C E. Early-onset Spinocerebellar Ataxia with retained tendon reflexes:  an autosomal recessive disease distinct from Friedreich’s Ataxia. Indian Pediatrics, 989, 26: 1014-1019
• Priestley L,  Kumar D, Sykes B   Amplification   of  COL2A1variable region used for  segregation  analysis in a  family with the Stickler syndrome Hum Genet, 1990,85: 525-526
• Kumar D, Mueller RF, Duggan MB, Brocklebank T. Familial aplasia/ hypoplasia of pelvis, femur, and ulna with abnormal digits in an inbred Muslim family: an example of autosomal recessive disorder with overlapping features of syndromes of Fuhrmann, Al-Awadi,  and Raas-Rothschild. Am. J.Medical Genetics 1997; 70:107-113
• Kumar D, Garcia-Minaur S, Quarrell OWJ, Landa G and Garazar C.  A distinct syndrome of familial cleft lip and palate with prominent eyes and characteristic facies in two unrelated families. Clinical Dysmorphology, 1996;5:295-301.
• Kumar D, Moss G, Primhak R, Coombs R: Congenital renal tubular dysplasia and  skull  ossification  defects   similar   to teratogenic effects of the angiotensin-1 converting  enzyme [ACE] inhibitors J Med Genet 1997;34:541-545
• Kumar D, Masel J A new multiple malformation syndrome of Mullerian Dysgenesis,  facial hypoplasia,  bilateral limb deformity brachydactyly,  spinal stenosis and scoliosis. Clinical Genetics July 1997; 52: 30-36.
• Kumar D, Rittey C, Cameron  A,  Variend  S: A recognizable inherited syndrome of progressive central nervous system degeneration and intracranial calcification with overlapping features of Aicardi-Goutieres syndrome.  Am J Medical Genetics 1998;75:508-515.
• Kumar D, Primhak, R, Kumar, A: Variable phenotype in Kaufman-McKusick syndrome: Report of Inbred Muslim Family and Review of Literature. Clinical Dysmorphology 1998;7:163-170.
• Kumar D: A case of lateral facial clefts with Fallot’s tetralogy, duodenal stenosis and intestinal malrotation- a new multiple congenital anomaly syndrome? Clinical Dysmorphology 1999; 8(1): 19-22.
• William Reardon, Anne Smith, John W Honour, Peter Hindmarsh, Debipriya Das, GillRumsby, Isabelle Nelson, Sue Malcom, Lesley Ades, David Sillence, Dhavendra Kumar, Celia DeLozier-Blanchet, Shane McKee, Thaddeus Kelly, Wallace L McKeehan, Michael Baraitser, Robin M Winter: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 2000, 37(1):26-32.
• Bhola RM, Horne GV, Squirrell DM, Chan TK, Kumar D: Autosomal dominant congenital superior oblique palsy. Eye 2001, 15: 479-484
• Slovtinek AM, Searby C, A;l-Gazali L, Hennekam RC, Schrander Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Canani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG: Mutation analysis of the MKKS gene in Mckusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Human Genetics, 2002, 110(6):561-7.
• Manir Ali, Lorna J Highet, Didier Lacombe, Cyril Goizet, Mary D King, Uta Tacke, Marjo S van der Knaap, Lieven Lagae, Chris Rittey, Han G Brunner, Hans von Bokhoven, Ben Hamel, Yvette A Oade, A Sanchis, I Desguerre, D Cau, N Mathieu, M L Moutard, Pierre Lebon, D. Kumar, Andrew P Jackson, and Yanick Joseph Crow. A second locus for Aicardi-Goutiéres syndrome at chromosome 13q14-21. J Med Genet (Published Online First: 20 May 2005.) 2006, 43(5):444-450.
• Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006 79(2):402-8.
• Dhavendra Kumar. Genomic medicine: a new frontier of medicine in the twenty-first century. Genomic Med. 2007; 1:3-7.
• Dhavendra Kumar. Genome Mirror-2006: 1) The human various project 2) The Nobel worthiness of RNA interference 3) Metabolomics and beyond. Genomic Med. 2007; 1:87-90.
• Dhavendra Kumar. From evidence-based medicine to genomic medicine. Genomic Med. Published on-line doi. 10.1007/s11568-007-9013-6; Genomic Med. 2007;1: 95-104; doi 10.1007/s11568-007-9013-6;
• Dhavendra Kumar. Genome Mirror 2007: 1) The future of genomic medicine- satellite symposium at the American Society of Human Genetics, 22 October 2007, San Diego, USA; 2) Rapid commercialization of the personalized medicine- a slippery slope- commentary on mini-symposium ‘Navigenics and the era of personalized medicine- the science, policy and ethics of personalized medicine’. Genomic Med. 2007; 1:147-148.
• Dhavendra Kumar. Genome Mirror 2008: 1. Recent molecular advances in essential hypertension- Alcohol and risk for hypertension & a possible genome-based vaccine for hypertension; 2) Personalized medicine: the emerging paradigm of warfarin. Genomic Med. 2008; 2:51-53.
• Dhavendra Kumar. The personalised medicine- a paradigm of evidence-based medicine. Annali dell’Instituto Superiore di Sanita 2011; 47(1): 31-40.
• Dhavendra Kumar. Applied and translational genomics- what is new? Applied and Translational Genomics 2012; 1:1-2.
• Dhavendra Kumar (2013)The molecular biology of chronic heart failure. Colloquium Series on Genomic & Molecular Medicine, Morgan & Claypool Life Sciences, DOI:10.4199/C00071ED1V01Y201212GMM0 03, pp1-80.
• Louis J. Muglia, Special Edition Editor⁎ and Dhavendra Kumar, Editor-in-Chief. Introduction to evolutionary genomic approaches to human disease☆ Appl Transl Genom. 2013 Dec 1; 2: 41; Published online 2013 Oct 21. doi: 10.1016/j.atg.2013.10.003; PMCID: PMC5121262
• Dhavendra Kumar. Genetic and genomic perspectives of obesity and diabetes mellitus: Implications for clinical medicine and public health. In 'Gains of Genomic Research in Biology and Medicine', Eds. N.Mehra & R.Jalali, Ranbaxy Science Foundation, New Delhi.2014. pp3-53.
• Dhavendra Kumar. Harnessing genomics for the developing world. In 'Gains of Genomic Research in Biology and Medicine', Eds. N.Mehra & R. Jalali, Ranbaxy Science Foundation, New Delhi.2014. pp215-228.;
• Dhavendra Kumar. ‘GENOMIC MEDICINE’- Prospects, Promises and Expectations- Inaugural editorial. CurrTrendGenomicMed 2015;1:2.
• Dhavendra Kumar. ‘Applied and translational genetic and genomic practice of cardiovascular medicine and surgery’- Inaugural Editorial. CardiovascularGeneticsGenomics 2015;1:1-3.
• Jeremy F McRae, Dhavendra Kumar, Matthew E Hurles: Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation - The Deciphering Developmental Disorders Study. bioRxiv 049056; doi: https://doi.org/10.1101/049056
• Fadil M. Hannan Sarah A. Howles Dhavendra Kumar, Rajesh V. Thakker. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects; Human Molecular Genetics, Volume 24, Issue 18, 15 September 2015, Pages 5079–5092; https://doi.org/10.1093/hmg/ddv226
• Mark J Hamilton, Richard Caswell, Natalie Canham, Dhavendra Kumar, The Deciphering Developmental Disorders Study, Mohnish Suri, "Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability"(Journal of Medical Genetics  http://creativecommons.org/licenses/by/4.0/ http://dx.doi.org/10.1136/jmedgenet-2017-104620 
• Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
• Jeremy F McRae, Stephen Clayton, TomasW Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Dhavendra Kumar, V.KAjith Kumar, Katherine Lachlan, Wayne Lam, AnneLampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Helen V Firth, Caroline F Wright, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles, doi: https://doi.org/10.1101/049056 
• Quantifying the contribution of recessive coding variation to developmental disorders; Hilary C. Martin, Wendy D. Jones,….. Dhavendra Kumar, Sally A. Lynch, Sarju G.  Mehta, Jenny Morton, Michael J. Parker, Miranda Splitt, Peter D.   Turnpenny, Pradeep C. Vasudevan, Michael Wright, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett, bioRxiv (2017) Key: citeulike:14481973
• 55. Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles; Hilary C. Martin, Wendy D. Jones, James Stephenson, Juliet Handsaker, Giuseppe Gallone, Jeremy. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplan, Elizabeth Radford, Nadia Akawi, Meena Balasubramanian, John Dean, ……Dhavendra Kumar, Sally Ann Lynch, Sarju G. Mehta, Jenny Morton, Michael J. Parker, Miranda Splitt, Peter  D. Turnpenny, Pradeep C. Vasudevan, Michael Wright, Caroline F. Wright, David R.FitzPatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett doi: https://doi.org/10.1101/201533  

Collaborators

• Division of Cancer & Genetics, Cardiff University, UK
• Genomic Policy Unit, University of South Wales, Pontypridd, UK
• UCL Centre for Cardiovascular Research, London, UK
• Inherited Cardiac Diseases Unit, Bart’s Hospital, London, UK
• Institute of Genomics and Integrative Biology, New Delhi, India
• Postgraduate Institute of Medical Education & Research, Chandigarh, India
• Advanced Centre for Training Research Education in Cancer (ACTREC), Mumbai, Maharashtra, India
• King George’s Medical University, Lucknow, UP, India
• All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
• Charian Heart Foundation, Chennai, TN, India
• Human Genetics Unit, the University of Colombo, Sri Lanka

News

• Interviews posted on YouTube. 
• 7^th International Cardiovascular Genomic Medicine (ICVGM), 4-5 December 2019, York, England, UK.
  genomicmedicine.org
• 9^th International Conference on Birth Defects and Developmental Disabilities in Developing Countries, 23-26 February 2020, Colombo, Sri Lanka. icbd.marchofdimes.org
• Workshop on ‘Genomic education in developing countries’ held on 23 February 2020 at the ICBD 2020, Colombo, Sri Lanka.
  emedevents.com
• ‘Genome India’ project, Government of India, February/ March 2020 insightsonindia.com
• Indo-UK Clinical Genomics & Genomic Medicine, November-December 2020 genomicmedicine.org