Webinar: “Ehlers-Danlos Hypermobility Type in the UK: Missed or Just Misunderstood?″

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TOPIC: “Ehlers-Danlos Syndrome Hypermobility Type in the UK: Missed or Just Misunderstood?”

PRESENTER: Dr. Ajoy Sarkar, Head of Genetics at the Nottingham Clinical Genetics Service in the UK

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About our speaker:

– Dr. Ajoy Sarkar is a Consultant in Clinical Genetics and Head of Genetics Services at the Nottingham Clinical Genetics Service.

– He works full-time in the National Health Service leading a team of geneticists that cover the UK counties of Nottinghamshire, Derbyshire and Lincolnshire.

– Dr. Sarkar sees patients with various genetic conditions and has developed close links in particular with EDS groups in Lincolnshire through seeing and diagnosing many individuals affected by the various types of EDS.


Bachelor of Medicine and Bachelor of Surgery – University of Manchester (MB ChB)

MSc Medical Genetics with Immunology – Brunel University

MA Healthcare ethics and Law- University of Manchester

MRCPCH (Member of The Royal College of Paediatrics and Child Health)

MRCPE (Member of The Royal College of Physician of Edinburgh)


A biochemically confirmed case of Bruck syndrome (published abstract)

J Med Genet 2006: 43: Supplement 1, S46, 1.13

Sarkar A, Bank RA, Hall C, Brady AF.

The Mutation spectrum in RECQL4 diseases

Eur J Hum Gen 2009: 17(2):151-8

Siitonen HA, Sotkasiir J, Biervliet M, Benmansour A, Cormier-Daire V, Crandall B, Hennekam R,  Herzog D, Miny P, Plon SE,  Riedl S, Sarkar A, Vargas FR, Verloes A, Wang  LL, Kääriäinen H, Kestilä M.

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Am J Med Genet 2009: 149A (8): 1628-1640

Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC.

Neurologic presentation of triple A syndrome

Pediatr Neurol. 2011: 45(5):347-9

Dixit A, Chow G, Sarkar A.

7q11.23 microduplication- a recognisable phenotype

Clinical Genetics 2013: 83(2): 155-161

Dixit A, McKee S, Mansour S, Mehta S, Tanteles G, Anastasiadou V, Patsalis P, Martin K, McCullough S, Suri M, Sarkar A.

Monozygotic twins discordant for trisomy 13: counselling and management issues

The Journal of Perinatology 2013: 32: 639-641

Dixit A, Tanteles G, Ocraft K, McEwan A, Sarkar A.

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome

Am J Med Genet 2016: 170A (3): 804-808

Hamilton MJ, Sarkar A, Dixit A, Marder E

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Am J Hum Genet. 2016 May 5;98(5):981-92.

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Hum Mol Genet. 2017 Jan 4

Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM; DDD Study., Wright CF.

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