I-DSD/I-CAH Registry – Summary Of Users, November 2015

Slides:



Advertisements
Similar presentations
Collecting family history information This presentation can be used as part of Lesson Plan 3 Taking and Drawing a Family History. It can also be used with.
Advertisements

Genetics and genomics for healthcare © 2014 NHS National Genetics Education and Development Centre Recognising patterns of.
Sex-linked traits. Sex chromosomes carry genes that code for traits other than gender. Traits determined by genes on the X chromosome are called sex-linked.
OIF/OEF Demographics: Who Are We Serving?. In VA: November 2007.
Total Registry Users – Clinical Users from 65 centres -22 Research Users from 12 centres -34 Basic Users from 24 centres -80 centres in total (some.
Sex-Linked Inheritance.
KARYOTYPE TESTS. KARYOTYPE =  Image of all the chromosomes from the nucleus of a cell  Can be done to identify genetic disorders.
The I-DSD and I-CAH Registry Update Jillian Bryce I-DSD/I-CAH Project Manager Presentation available at
Color blindness is a trait that is passed down from parents to children in a unique way that we have not discussed yet. Color blind individuals can see.
Pedigree Charts The family tree of genetics.
Differential Diagnosis of Ambiguous Genitalia (AG)
A Genetic Trait. What are the odds that males will be born compared to females? You may be surprised, but there is a 50% chance that when a baby is born,
 Human body cells have 46 paired chromosomes or 23 pairs of chromosomes.  Human gametes have 23 unpaired chromosomes  When a sperm and egg unite each.
The International DSD Registry – An Update Jillian Bryce I-DSD Project Manager.
Professor Hassan Nasrat
14. Pedigrees/ Human Genetics. Fruit Fly- Drosophila melanogaster, used by scientists to study genes and heredity.  Advantages of Fruit Flies  Short.
Genetics Fill-In Notes Part 2 Mrs. Kooiman. Incomplete Dominance When a cross between organisms with two different phenotypes produces offspring with.
Инвестиционный паспорт Муниципального образования «Целинский район»
STARTER Now try your non-disjunction review sheet!
Sex Chromosomes.
(x – 8) (x + 8) = 0 x – 8 = 0 x + 8 = x = 8 x = (x + 5) (x + 2) = 0 x + 5 = 0 x + 2 = x = - 5 x = - 2.
Pedigree Charts The family tree of genetics Created by Lauren Almaguer, CDC Science Ambassador, 2004.
Sex Determination Sex determined by genes found on the X and Y chromosome Females: egg produced with an X chromosome Males: ½ sperm cells contain X;
Slide 1 of 41 What happens to produce?  All males are mutant, but all females are wild-type?  All females are wild type, but only 50% of males are? 
Karyotype Notes. A karyotype is a “ picture ” of a person ’ s chromosomes. Each person has 46 chromosomes, in 23 pairs. Pairs 1-22 are called Autosomes.
Pedigrees.
PEDIGREES Tracing traits through generations 1. What is a Pedigree?  a Pedigree is a chart that traces the occurrence of a trait through several generations.
KEY CONCEPT A combination of methods is used to study human genetics.
Pedigree Charts The family tree of genetics. What is a Pedigree?  A pedigree is a chart of the genetic history of family over several generations.
November 12, 2009 Mrs. Bracken Please Begin Your Daily “Mind Matters” BIOLOGY.
Sex Determination In humans, the X and Y chromosomes control the sex of offspring. Outcome is always 50% chance of a male, and 50% chance of a female Female.
The family tree of genetics
STDs in Adolescents and Young Adults Sexually Transmitted Disease Surveillance 2005 Division of STD Prevention.
The family tree of genetics
照片档案整理 一、照片档案的含义 二、照片档案的归档范围 三、 卷内照片的分类、组卷、排序与编号 四、填写照片档案说明 五、照片档案编目及封面、备考填写 六、数码照片整理方法 七、照片档案的保管与保护.
공무원연금관리공단 광주지부 공무원대부등 공적연금 연계제도 공무원연금관리공단 광주지부. 공적연금 연계제도 국민연금과 직역연금 ( 공무원 / 사학 / 군인 / 별정우체국 ) 간의 연계가 이루어지지 않고 있 어 공적연금의 사각지대가 발생해 노후생활안정 달성 미흡 연계제도 시행전.
Жюль Верн ( ). Я мальчиком мечтал, читая Жюля Верна, Что тени вымысла плоть обретут для нас; Что поплывет судно громадней «Грейт Истерна»; Что.
Pedigree Charts The family tree of genetics. Overview I.What is a pedigree? a. Definition b. Uses II. Constructing a pedigree a. Symbols b. Connecting.
Pedigree Charts The family tree of genetics. What is a Pedigree?  A pedigree is a chart of the genetic history of family over several generations. 
Sex-Linked Punnett Squares.
The family tree of genetics
continued on next slide
Sample Presentation. Slide 1 Info Slide 2 Info.
                                                                                                                                                                                                                                                
UK Renal Registry 19th Annual Report
continued on next slide
continued on next slide
The family tree of genetics
Pedigree Lecture 7.
McDonald’s 1. Mean =26.27 g 2. Median = 26g 3. 5 number summary = 9, 19, 26, 39, grams 5. No outliers.
Pedigrees & Karyotypes
Pedigree Lecture Pedigree –
Sex Chromosomes.
Health Protection Surveillance Centre
Determining Sex.
Sex-Linked Inheritance.
Sex-Linked Punnett Squares.
Jianguang Ji, Kari Hemminki  Clinical Gastroenterology and Hepatology 
Two copies of each autosomal gene affect phenotype.
C.2.10 Sample Questions.
C.2.8 Sample Questions.
How is gender determined?
C.2.8 Sample Questions.
1. What animal 2. Male or Female ? 4. Male or Female? Why? Why?
continued on next slide
UK Renal Registry 16th Annual Report
Exploratory Analysis Report
continued on next slide
Data Exchange through the UNECE Clearing House of Migration Statistics
Presentation transcript:

I-DSD/I-CAH Registry – Summary Of Users, November 2015 Total Registry Users – 239 174 Clinical Users from 108 centres ● 135 centres in total 19 Research Users from 12 centres ● 51 countries in 6 continents 62 Network only Users from 51 centres

I-DSD/I-CAH Registry Metrics 1885 cases (October 2015) Median Year of Birth - 2000 (range 1927-2015) Majority of cases: 46XY (1219), 46XX (343) Female - 986 (48%), Male - 893 (48%) Number of cases Associated conditions 403 (21%) History of infertility 102 (5%) Family history of DSD 288 (15%) Parental consanguinity 222 (12%) Samples available 583 (31%) Disorder Types in the Registry This slide is providing an update on the metrics of the registry <read>