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Генетическая диагностика глазных болезней
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Диагностируем:
· Катаракта
· Глаукома
· Макулярная дегенерация
· Близорукость
· Пигментный ретинит
· Дистрофии сетчатки
· Дистрофии роговицы
· Увеиты
· Ретинобластома
· Амавроз Лебера
· Микрофтальм
· Анофтальм
· Аксенфельда-Ригера
· Ваарденбурга синдром
· Ретиношизис
· Косоглазие
· Выезд окулиста на дом
· Синдром Ашера
· Редкие болезни
 
 
Обучение
· Конференции
· Книги по офтальмогенетике
· Книга О.В. Хлебниковой Наследственная патология органа зрения
· Методы исследования в офтальмологии
· Классификация наследственных болезней сетчатки
· Критерии клинической классификации
· Форум по молекулярной медицине 2013
· Анализ геномных NGS данных
 
 
Пороки развития
· размеров и формы глаза
· придаточного аппарата
· роговицы
· сосудистой оболочки глаза
· хрусталика
· сетчатки
· зрительного нерва
· МУТАНТНЫЕ БЕЛКИ
 
 
Типы диагностики
· CLIA - что это?
· Кариотипирование
· FISH анализ
· SKY тест
· SSDGE или SSCP
· DGGE
· RFLPs
· Специфичный микрочип
· Типичный микрочип
· Прямое секвенирование
 
 
Панели тестов
· Панель "цилиопатии"
· Панель "пигментный ретинит"
· Панель "все глазные заболевания"
· Животные модели
· Пигментный ретинит: новости 2013
· Метаболизм сетчатки
· Дегенерация сетчатки и клеточная биология
 
 

Съезд офтальмогенетиков 2013, ISGEDR - international society of genetic eye disorders and retinoblastoma (Гент, Бельгия)

Докладчики >>

Подробная программа (pdf 2.0 Mb) и постеры (pdf 100 Kb)

 

 
9:30 Autosomal recessive bestrophinopathy

Rajani BATTU Bangalore, India

9:42 Regulatory mutations in the 5'-UTR of NMNAT1, cause Leber congenital amaurosis Frauke COPPIETERS, Ghent, Belgium
9:54 Adult-onset cone dystrophy associated with carboxyl RPGR mutations

Rola BA-ABBAD London, UK

10:06 Is the visual function seen in a child with lipemia retinalis reversible? Hanna L SCANGA Pittsburgh, PA, USA
10:18 Benign yellow dot dystrophy Arundhati DEV BORMAN London, UK
10:30 Clinical findings in achromatopsia from PDEC mutations Meghan MARINO Cleveland, USA
10:42 Characterization of photoreceptor structure in LCR-deletion associated blue cone monochromatism Robert HUFNAGEL Cincinnati, OH, USA
10:54 Identification of concurrent PRPH2 & RP2 mutations within an apparent autosomal dominant pedigree: when are we done testing?

Dianne KH WHEATON Dallas, TX, USA

11:06 Copy number analysis of ABCA4 in Belgian patients with Stargardt disease reveals exon 20-22 deletion

Miriam BAUWENS Ghent, Belgium

11:18 The number of sequence variations detected in ABCA4 correlates with poorer VA in a cohort of Stargardt disease patients

Virginia UTZ Cleveland, OH, USA

14:00 Retinoblastoma clinical research in Egypt: 5 years experience

Ahmad S ALFAAR Cairo, Egypt

14:12 Squint as a presenting feature in retinoblastoma

Ashwin REDDY London, UK

14:24 Molecular surveillance for metastatic retinoblastoma

Brenda GALLIE Toronto, Canada

14:36 Second non-ocular tumors among survivors of retinoblastoma treated with proton radiotherapy

Shizuo MUKAI Boston, MA, USA

14:48 Diagnostic performance of MRI and CT for retinoblastoma: a systematic review and meta-analysis Marcus DE JONG Amsterdam, The Netherlands
15:00 Delay in the diagnosis of retinoblastoma in the UK: has anything changed in 2 decades?

Ashwin REDDY London, UK

15:12 Outcomes of intra- and extra-ocular retinoblastomas from a single institute in South India

Parag SHAH Tamil Nadu, India

15:25 Eye cancer pathology in Kenya

Helen DIMARAS Toronto, Canada

15:36 Detection of calcifications in RB using gradient-echo MR imaging sequences: comparative study between in vivo MR imaging and ex vivo high-resolution CT

Pim DE GRAAF Amsterdam, The Netherlands

15:48 The case for updating the International Intraocular retinoblastoma classification A Linn Murphree, Los Angeles, CA, USA

 

16:30 ADAMTS9 as a candidate gene in pathogenesis of anterior segment dysgenesis

Johane DUBAIL Cleveland, OH, USA

16:42 Expansion of the ocular phenotype caused by mutations in ADAMTS18

Gavin ARNO London, UK

16:54 Epithelial recurrent erosion dystrophy: a misnomer?

Walter LISCH Hanau, Germany

17:06 Homozygous mutations in PXDN cause congenital cataract, corneal opacity and developmental glaucoma

Kamron KHAN Leeds, UK

17:18 Non-selective assembly of fibrillin microfibrils in the rodent ocular zonule and in vitro: implications for Marfan syndrome Lauren C BEENE Cleveland, OH, USA
17:30 Ocular features of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) syndrome due to KIF1 mutations

Irina BALIKOVA Ghent, Belgium

17:42 Harboyan syndrome in a Czech proband caused by a novel homozygous nonsense mutation in SLC4A11

Petra LISKOVA Prague, Czech Republic

17:54 Brittle cornea syndrome: characetrisation of a retinal phenotype with relevance to common ocular disease Louise PORTER Manchester, UK
18:06 Indentity-by-descent mapping and exome sequencing reveals new candidate gene for primary congenital glaucoma locus GLC3E

Hannah VERDIN Ghent, Belgium

18:18 Eye Developmental Anomalies and the Vitamin A pathway

Nicky RAGGE Oxford, UK

18:30 MSX2 gene duplication with eye development defect Julie PLAISANCIE Strasbourg, France

 

8:30 Search for New Genes in Autosomal Recessive Retinitis Pigmentosa

Nour-Al-Dain MARZOUKA Montpellier, France

8:42 Genetics of isolated unilateral retinoblastoma Dietmar LOHMANN Duisburg-Essen, Germany
8:54 A novel approach to molecular diagnosis of retinoblastoma using next-generation sequencing and RB1 custom ACGH

Gemma D'ELIA Rome, Italy

9:06 The Role of Genetic Testing in Elucidating the Cause of Early Onset Horizontal Nystagmus (EOHN) Joanne SUTHERLAND Toronto, Canada
9:18 Losing the "middle man" in genetic eye disease: the current scope of direct to consumer testing in ophthalmology

Lisa S KEARNS Melbourne, Australia

9:30 Next-generation sequencing panel to determine the real prevalence for gene defects underlying rod-cone dystrophies

Said EL SHAMIEH Paris, France

9:42 Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in inherited retinal dystrophies

Kristof VAN SCHIL Ghent, Belgium

11:15 How do you deliver gene therapy to the eye?

Albert M MAGUIRE Philadelphia, PA, USA

11:30 Retinal dystrophies: defining new endpoints for therapeutic trials

Birgit LORENZ Giessen, Germany

11:45 Gene therapy for Leber congenital amaurosis

Jean BENNETT Philadelphia, PA, USA

12:00 Gene therapy for choroideraemia

Alun Barnard Oxford, UK

12:15 Gene therapy for Stargardt disease

Isabelle AUDO Paris, France

12:30 Gene therapy for Usher syndrome type 1B

Mark PENNESI Portland, OR, USA

12:45 Stem cell therapy for retinal dystrophies

Mandeep SINGH Oxford, UK

14:30 AAV-RDCVF rescues cones and AAV-RDCVFL protects rods in retinal degeneration John G FLANNERY Berkeley, CA, USA

14:45 Immunosuppressive therapy for retinal degeneration in Batten disease Arlene DRACK Iowa City, IA, USA

15:00 Ophthalmic success with Genome Wide Association Studies (GWAS)

David MACKEY Perth, Australia

15:15 An international GWAS of Glaucoma-Related Optic Disc Parameters: the International Glaucoma Genetics Consortium Henriet SPRINGELKAMP Rotterdam, The Netherlands
15:30 GWAS of refractive error Christopher HAMMOND London, UK
15:45

GWAS of central corneal thickness and keratoconus

Seyhan YAZAR Perth, Australia

 

16:30 Role of genetic loci implicated in diabetic reinopathy risk Annie MCAULEY Melbourne, Australia
16:42 No evidence for differential IL17RC promoter methylation in age-related macular degeneration

Maria FRANCHINA Perth, Australia

16:54 Association of genetic risk for refractive error and time spent outdoors

Seyhan YAZAR Perth, Australia

17:06 Enrichment of pathogenic alleles in the brittle cornea gene ZNF469 provides novel insights into development of corneal thinning & keratoconus Louise PORTER Manchester, UK
17:18 Description of intellectual, adaptive &behavioural function of patients with Bardet-Biedl syndrome: preliminary report

Elise HEON Toronto, Canada

17:30 Reproductive behaviour of individuals with increased risk of having a child with retinoblastoma Charlotte DOMMERING Amsterdam, The Netherlands

 

8:30

Management of bilateral retinoblastoma with chemoreduction and focal therapy

Natalia MATTI Tijuana, Mexico

8:42 Focal treatment of retinoblastoma tumors with simultaneous 810nm and 532nm lasers

Ashwin MALLIPATNA Bangalore, India

8:54

Standard conservative approaches using systemic CT and local treatments: experience of the Institut Curie

Isabelle AERTS Paris, France

9:06 Management and outcome of 550 cases of retinoblastoma treated at a tertiary referral centre in India

Bhavna CHAWLA New Delhi, India

9:18 EBR therapy for retinoblastoma resistant to chemotherapy and focal therapy: outcome and predictive factors

Yacoub A YOUSEF Amman, Jordan

9:30 Trilateral retinoblastoma at the age of nine weeks Vicktoria VISHNEVSKIA-DAI. Tel Aviv, Israel
9:42 Conservative treatment of advanced bilateral retinoblastoma: comparison of 1995-2003 to 2004-2009 Livia LUMBROSO-LE ROUIC Paris, France
11:30

Intravitrealmelphalan for retinoblastoma with cloudy vitreous seeds

Marie-Claire GAILLARD Lausanne, Switzerland
11:42 Intra-arterial chemotherapy using multi-agent chemotherapy for treatment of recalcitrant intra-ocular retinoblastoma

Brian MARR New York, NY, USA

11:54

High-risk histopathologic features of retinoblastoma in Egypt: treatment outcomes

Hossam EL-ZOMOR Cairo, Egypt

12:06 Pathological findings of retinoblastoma in Egypt; implementing CAP protocol in developing countries

Hala TAHA Cairo, Egypt

12:18 Sodium iodide symporter is differentially expressed in retinoblastoma and correlates with the aggressiveness of tumors

Jaisy Samuel Tamil Nadu, India

12:30 High-resolution SNP array profiling identifies variability in retinoblastoma genome stability Sandra E STAFFIERI Melbourne, Australia
12:42 High-resolution SNP array profiling identifies variability in retinoblastoma genome stability Berber MOL

 

14:00 Tuberous sclerosis - why we need an ophthalmic check-up Christina GERTH-KAHLERT Zurich, Switzerland
14:12 Color vision in Stargardt disease Tine VANDENBROUCKE Ghent, Belgium
14:24 The phenotypic variability of retinal dystrophies associated with mutations in CRX

Sarah HULL London, UK

14:36 Pathognomonic retinal dysfunction and dystrophies in children

Arif O KHAN Riyadh, Saudi Arabia

14:48 Phenotype of RDH12 -related early-onset retinal dystrophy

Julie DE ZAEYTIJD Ghent, Belgium

What needs to happen to take advantage of genetics?
How are you using genetics in patient care now, and in 3 years?
How will you determine the most cost-effective approach (timing, genes tested, clinical practice)?

Each speaker will address these questions in the context of their clinical expertise, followed by a panel discussion with opportunity for all to explore issues and opportunities of rapidly evolving new technologies.

  • Elise HEON, Toronto, Canada
  • Isabelle AUDO, Paris, France
  • Andrew WEBSTER/Anthony MOORE, London, UK
  • Arlene DRACK, Iowa City, IA, USA
  • Helen DIMARAS, Toronto, Canada
  • Bart P LEROY, Ghent, Belgium & Philadelphia, PA, USA

Секция конференции "генетические глазные заболевания" для пациентов и их семей

17:00 Introduction

Bart P LEROY Ghent, Belgium & Philadelphia, PA, USA

17:05 Basics of Genetics Elias I TRABOULSI Cleveland, OH, USA
17:25 Update on Genetic Testing

Edwin M STONE Iowa City, IA, USA

17:45 Using Genetic Tests in the Clinic

Elise HEON Toronto, Canada

18:05 Update on Gene Therapy

Jean BENNETT Philadelphia, PA, USA

18:25 Conclusions Bart P LEROY Ghent Belgium & Philadelphia, PA, USA

http://www.clevelandclinicmeded.com/live/courses/isgedr13/agenda.asp

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