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Prof Dhavendra Kumar known as Professor Dhavendra Kumar

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MBBS (Lucknow University,India)
MD (Paediatrics, Lucknow University, India)
DCH (Royal College of Surgeons & Physicians, Ireland)
MMedSci (University of Sheffield, UK)
MRCPI (Royal College of Physicians, Ireland)
FRCPI (Royal College of Physicians, Ireland)
FACMG (American College of Medical Genetics)
FRCPCH (Royal College of Paediatrics & Child Health, UK)
PostGraduate Certificate in Medical Education (Staffordshire University, UK)
FRCP (Royal College of Physicians, London)
DSc (King George’s Medical University, Lucknow, India)


Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences & Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics.
After qualifying in Medicine from the King George’s Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK).
In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King George’s Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.


Clinical Genetics Service:General Clinical Genetics; Paediatric genetics- clinical dysmorphology; Clinical cardiovascular genetics.
Current Lead Consultant for Cardiovascular Genetics service for Wales, actively involved in a number of clinical, academic and professional activities; organised a multi-disciplinary teams for developing integrated ‘All Wales Service for Inherited Cardiovascular Conditions” within AWMGS:
Service development for Wales cardiac genetic service- Preparing the clinical service plan and protocols and clinical care pathways for clinical referrals, molecular genetic testing and managing family members with a history of ‘sudden cardiac death’.
Organizing the NHS multi-disciplinary team for providing a World class service for patients and families with inherited heart disorders across Wales
Active participation in setting up the National level service for families affected with sudden cardiac death in a close relative as laid down in the National Service Framework for England and Wales.
Organised and led the All Wales Cardiovascular Genetics Interest Group
Contacts with Wales section of major patient support groups- for SADS, CMA, CRY and AA
Organised and led the Cardiff symposium on clinical cardiovascular genetics in Cardiff (22-23 Nov. 2007 and 23-24 Nov. 2009); planned for 2011 (25/26 Nov.2011).
Active participation in the UK Association for Inherited Cardiovascular Conditions (AICC) affiliated to BSHG and BCVS
Member of the UK Cardiac Genetics Advisory Group of the Public Health Genomic Foundation, Cambridge
Teaching & Training:
o Undergraduate (MB) teaching Cardiff & Swansea
o Intercalated BSc in Medical Genetics, Cardiff University
o Educational supervisor- Clinical Genetics
o MSc in Genetic Counselling, Cardiff University
o Co-Supervisor, PhD, University of Bristol (2009 to present)
o External examiner D.Sc, Queens University Belfast, N-Ireland, 2010.
Research & Development Lead for Medical Genetics & Specialties Division (Clinical Board) for the R&D, Cardiff and Vale University Health Board, Cardiff (2011 to 2014)


Founding Editor in Chief/ Co-Editor, The HUGO Journal, the official journal for the Human Genome Organisation.
Member- Council of the Human Genome Organisation (HUGO)
Founding Member/ Treasurer- Association for Inherited Cardiac Conditions (AICC)
Member- Senior Medical Staff Committee & Medical Advisory Committee for the Cardiff and Vales University Health Board
Genetics Representative for the Wales Cardiovascular Registered Reseach Group
Genetics lead for Cardiovascular Research Group, Wales Gene Park, the Cardiff School of Medicine
Founding Editor in Chief- ‘Current Trends in Genomic Medicine’ & ‘Cardiovascular Genetics & Genomics’
International Advisor- Society of the Indian Academy of Medical Genetics
Founding Lead/ Chair- Indo UK Genetic Education Forum
Council Member- British Society of Genetic Medicine
Council & Conference Organiser- Clinical Genetics Society-UK
Founder/ Director- The Genomic Medicine Foundation (UK)


1. MD (Paediatrics) University of Lucknow, India 1977.
“A study of plasma and cerebrospinal fluid electrolytes in certain childhood neurological disorders with special reference to magnesium”
2. M Med Sci. (Medical Genetics) University of Sheffield 1987.
“Genetic studies in hereditary cerebellar ataxia and related disorders”
3. D.Sc, King George’s Medical University, Lucknow, India, 2015
“Clinical and Genetic Heterogeneity of Human Inherited Disease- Personal Observations and Interpretations”

Book chapters (Total=40)

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’.
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 text book 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.
• 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

Chapters in other books

1. 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
2. Kumar D: Grebe Syndrome. In “BirthDefects Encyclopaedia”. Ed. Mary Louise Bruyse. Alan R. Liss Inc.New York, 1990.
3. Kumar D: Moebius syndrome In “Congenital Malformations” Eds.D.Donnai and R.Winter, Chapman and Hall, London, 1995.

Peer-reviewed articles & papers
1. Gray R G F, Kumar D, Whitfield A E, Glycogen Phosphorylase b Kinase deficiency in three siblings. J. Inherited Metabolic Disease 1983, 6, 107
2. Kumar D, Curtis D, and Blank C E, Grebe Chondrodysplasia and Brachydactyly in a family. Clinical Genetics 1984, 25(1), 68-72
3. Blank C E, Kumar D, Johnson M. Multivitamins and prevention of Neural Tube Defects: A need for detailed counselling. Lancet 1984, February 4, 291
4. Kumar D Genetics of Indian Childhood Cirrhosis. Tropical and Geographic Medicine 1984, 36, 313-316
5. 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
6. 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.
7. 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
8. Kumar D, Blank C E, Gelsthorpe K. Hereditary Cerebellar Ataxia and Genetic Linkage with HLA. Human Genetics 1986, 72: 327-332
9. Kumar D and Blank C E. Hereditary Spinocerebellar Ataxia and genetic linkage with HLA. Journal Medical Genetics, 1984, 21, 301
10. 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
11. Kumar D, Levick R K. Autosomal dominant onychodystrophy and anonychia and brachydactyly type ‘B’ with ectrodactyly. Clin Genetics, 1986, 30: 219-225.
12. Kumar D, Heath P R and Blank C E. Clinical manifestations of trisomy 5q J.Medical Genetics, 1987, 24(3): 180-184
13. 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
14. Kumar D. Genetic aspects of congenital cerebellar ataxia: Ind. J. Pediatrics 1986, 53: 761-773
15. Kumar D, Timperley W R. Neurilemmomatosis and Neurifibromatosis Syndrome Ind. Journal Pediatrics 1985, 52:523-526
16. 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.
17. 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.
18. Kumar D Syndrome of the Month: Moebius syndrome J.Med Genet 1990, 27:122-126
19. Nour S, Kumar D, Dickson J A. Anorectal malformations with sacral bony abnormalities. Archives of Disease in Childhood, 1989, 64: 1618-1620
20. Kumar D Late onset Spinocerebellar Ataxia of possible X-linked recessive inheritance Brain dysfunction, 1989,2(5): 268-272
21. 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
22. 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
23. 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
24. 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.
25. 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
26. 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.
27. Kumar D, Rittey C, Cameron A, Variend S: A recognizable inherited syndrome of progressive central nervous system degeneration and intra cranial calcification with over lapping features of Aicardi-Goutieres syndrome. Am J Medical Genetics 1998;75:508-515.
28. 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.
29. 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.
30. 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.
31. Bhola RM, Horne GV, Squirrell DM, Chan TK, Kumar D: Autosomal dominant congenital superior oblique palsy. Eye 2001, 15: 479-484
32. 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.
33. 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.
34. 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.
35. Dhavendra Kumar. Genomic medicine: a new frontier of medicine in the twenty first century. Genomic Med. 2007; 1:3-7.
36. Dhavendra Kumar. Genome Mirror-2006: 1) The human variome project 2) The Nobel worthiness of RNA interference 3) Metabolomics and beyond. Genomic Med. 2007; 1:87-90.
37. 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;
38. 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.
39. 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.
40. Dhavendra Kumar. The personalised medicine- a paradigm of evidence-based medicine. Annali dell’Instituto Superiore di Sanita 2011; 47(1): 31-40.
41. Dhavendra Kumar. Applied and translational genomics- what is new? Applied and Translational Genomics 2012; 1:1-2.
42. 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.
43. 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.
44. 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.
45. Dhavendra Kumar. ‘GENOMIC MEDICINE’- Prospects, Promises and Expectations. CurrTrendGenomicMed 2015;1:1-5.
46. Dhavendra Kumar. ‘Applied and translational genetic and genomic practice of the_ cardiovascular medicine and surgery’- Inaugural Editorial. CardiovascularGeneticsGenomics 2015;1:1-3._


The Clinical Genetics Society, UK (1980 to 1986- merger with BSHG)
British Medical Association from 1985 to date
The Skeletal Dysplasia Group (UK) from1987 to date
The British Society of Human Genetics (British Society of Genetic Medicine) from 1996 to date
American Society of Human Genetics from 1997
Life Member- Indian Society of Human Genetics, 2002
Human Genome Organization (HUGO), 2005- to date
Association for Inherited Cardiac Conditions- UK, 2010 to date
Global Alliance for Genomics in Health (GA4GH)- 2014 to date


Professor Kumar has co-authored/ co-edited 11 books- Genetic disorders of the Indian Subcontinent-Springer/Kluwer, Genomics and Clinical Medicine- Oxford University Press, Principles and Practice of Clinical Cardiovascular Genetics-Oxford University Press, Oxford Specialist Handbook Inherited Cardiac disease, e-book series Genomic & Molecular Medicine, Oxford Genomic Medicine- Principles & Practice, Genomics & Society and Medical & Health Genomics. His new books include ‘Cardiovascular Genetics and Genomics for Clinicians’ and ‘Principles and Practice of Clinical Molecular Medicine’.
He has several publications in peer-reviewed journals of pediatrics and clinical genetics.
In 2006, he established and developed a new biomedical journal (Genomic Medicine-Springer) that subsequently became the official journal ((‘The HUGO Journal’) of the Human Genome Organization (HUGO), a leading International genetics and genomics organization. He served on the editorial board of the HUGO Journal as the founding Editor in Chief as well as a member of the HUGO Publications Committee. He founded other new journals- Applied and Translational Genomics (Elsevier), Current Trends in Genomic Medicine (GMF-UK) and Cardiovascular Genetics and Genomics (GMF-UK).
In 2013, he founded and leads the Genomic Medicine Foundation (UK) for promoting and education on genomic applications in medicine and health.


Visiting Professor to Chettinad Academy for Education & Research (CARE), Chetinad Health University, Chennai, India.
Adjunct Professor, Public Health Genetics, Chinese Capital Medical University, Beijing, Republic of China.
Visiting Professor, Ranbaxy Science Foundation, India; January- February 2013
Visiting Professor- Advanced Bio-Medical Research Centre, King George’s Medical University, Lucknow, India, 2013-date


Professor Kumar’s current research interests include clinical cardiovascular genetics, specifically ‘sudden cardiac death’ and ‘molecular genetics of chronic heart failure’.
In addition, he is collaborating on applications of genomics in medicine and health in emerging economies of the developing world for health and socio-economic benefits. Apart from the human health, he is also collaborating on projects related to genetically modified foods and enhancing bio-economy through translational genomics research in the developing world. He is currently actively involved in promoting medical genetics and genomics in developing countries through education programs and creating a comprehensive information resource on genomic variation and genetic disorders across the developing and least developed countries.

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