2015 Group Project 6: Difference between revisions

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=Diagnosis=
=Diagnosis=


{|
<table>
|-
<tr>
| Disease
  <td>Disease</td>
| Gene
  <td>Gene</td>
|-
</tr>
| 5 Alpha Reductase Deficiency (5ARD)
<tr>
|
  <td>5 Alpha Reductase Deficiency (5ARD)</td>
|-
</tr>
| Achondroplasia
<tr>
|
  <td>Achondroplasia</td>
|-
</tr>
| Acute Intermittent Porphyria
<tr>
|
  <td>Acute Intermittent Porphyria</td>
|-
</tr>
| Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)
</table>
 
 
|-
| Adrenoleukodystrophy (Adrenomyeloneuropathy)
|
|-
| Agammaglobulinaemia (x-linked)
|
|-
| Agammaglobulinemia Bruton Tyrosine Kinase (BTK)
|
|-
| Aicardi Goutieres Syndrome 1 (AGS1)
|-
| Alagille Syndrome
|
|-
| Alpers Syndrome
|
|-
| Alpha-1-antitrypsin deficiency
|
|-
| Alpha-Mannosidosis
|
|-
| Alpha Thalassemia
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|-
| Alport Syndrome
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|-
| Alports Syndrome
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|-
| Alports Syndrome (Autosomal Dominant)
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|-
| Alzheimer's Disease - early onset (Type 3 and 4)
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|-
| Alzheimers Disease - early onset
|
|-
| Amyotrophic Lateral Sclerosis 1 (ALS1)
|
| -
| Anauxetic Dysplasia
|
|
|-
| Anderson Fabry Disease
|
|-
| Androgen Insensitivity Syndrome
|
|-
| Angelman Syndrome (UBE3A gene only)
|
| -
| Aniridia
|
|-
| Aplastic anaemia - severe
|
|-
| Argininosuccinic Aciduria
|
| -
| Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D)
|
|-
| Arthrogryposis renal dysfunction and cholestasis type 1 and type 2
|
|-
| Ataxia Telangiectasia
|
|-
| Autosomal Dominant Acute Necrotizing Encephalopathy
|
|-
| Autosomal dominant familial exudative vitreoretinopathy types 1, 5 and 4,
|
|-
| Autosomal Dominant Polycystic Kidney Disease (ADPKD)
|
|-
| Autosomal Dominant Retinitis Pigmentosa
|
| -
| Autosomal Recessive Dopa Responsive Dystonia
|
|-
| Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (A RSCIDBSD)
|
|}


=Utilization of Diseased Cell Lines=  
=Utilization of Diseased Cell Lines=  

Revision as of 17:41, 17 September 2015

2015 Student Projects 
2015 Projects: Three Person Embryos | Ovarian Hyper-stimulation Syndrome | Polycystic Ovarian Syndrome | Male Infertility | Oncofertility | Preimplantation Genetic Diagnosis | Students
2015 Group Project Topic - Assisted Reproductive Technology
This page is an undergraduate science embryology student and may contain inaccuracies in either description or acknowledgements.


Prenatal Genetic Diagnosis for ART

Introduction

History

Indications

Inheritance patterns

Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) is used to test the genetic makeup of embryos to prevent the transmission of inherited diseases with detrimental effects such as cystic fibrosis, spinal muscular atrophy and beta – thalassaemia [1] [2]. It was first used in the United Kingdom in the 1980s of arenoleucodystrophy and primarily focusing on sex- linked disorders [2][3]. PGD is now capable of detecting single cell defects (molecular) and chromosomal disorders resulting from the inversion, translocation or deletion of chromosomes (cytogenic) [1],[4]. PGD can be applied to the embryo at different stages. That is on polar bodies, blastomeres or blastocyst [1].

Depending on the type of genetic disorder, PGD utilises different methods of genetic testing. These include Fluorescence in situ hybridisation (FISH) which is used for sex – linked disorders and detects chromosomal rearrangements [4][5] and Embryo halotyping which allows the identification of chromosomes causing the inherited disorder through knowledge of the pattern of closely linked markers [1]. Polymerase chain reaction (PCR) is also widely used to detect molecular abnormalities [4].

Preimplantation Genetic Screening

Cell Extraction Methods

Biopsy, the removal of genetic materials, from oocytes or embryos in the preimplantation stage is the primary step in PGD. For the past two decades these biopsies have been performed at three stages, the polar body, blastomere, and blastocyst, and the methodologies optimized to ensure the embryo’s viability. The most common approach involves biopsies at the cleavage stage. However, polar body and blastocyst biopsies are increasingly more often tested and applied. Approached for opening the zona pellucida involve next to the traditional mechanical and chemical means, novel approaches such as noncontact lasers. Their application may simplify and secure the procedure significantly. The most challenging question about PGD procedures remains at what stage biopsies should be taken. Much controversy has developed around this topic, highlighting the varying disadvantages and advantages of temporal biopsies. [6]


PMID 24305177

Polar Body Analysis

PMID 22723007 PMID 26096028 PMID 26024488 PMID 25639967 PMID 25106935 PMID 23993663 PMID 20966459 PMID 26168107 PMID 25654908 PMID 25064409

Blastomere biopsy

PMID 23993663 PMID 20966459 PMID 22723007 PMID 26168107 PMID 25654908 PMID 25816038 PMID 25516085 PMID 25624194 PMID 24581980 PMID 24301057

Trophectoderm biopsy

PMID 23993663 PMID 20966459 PMID 22723007 PMID 26168107 PMID 25654908

Genetic Techniques

PMID 25154779 (might be useful?)

Fluorescent In Situ Hybridisation (FISH)

PCR

Diagnosis

Disease Gene
5 Alpha Reductase Deficiency (5ARD)
Achondroplasia
Acute Intermittent Porphyria

Utilization of Diseased Cell Lines

Laws & Legal status

Future/Current Research

Ethics

References

  1. ↑ 1.0 1.1 1.2 1.3 Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press
  2. ↑ 2.0 2.1 <pubmed>17823145</pubmed>
  3. ↑ <pubmed>23150080</pubmed>
  4. ↑ 4.0 4.1 4.2 <pubmed>11325751</pubmed>
  5. ↑ <pubmed>17876073</pubmed>
  6. ↑ <pubmed>22723007</pubmed>


Please do not use your real name on this website, use only your student number.

2015 Course: Week 2 Lecture 1 Lecture 2 Lab 1 | Week 3 Lecture 3 Lecture 4 Lab 2 | Week 4 Lecture 5 Lecture 6 Lab 3 | Week 5 Lecture 7 Lecture 8 Lab 4 | Week 6 Lecture 9 Lecture 10 Lab 5 | Week 7 Lecture 11 Lecture 12 Lab 6 | Week 8 Lecture 13 Lecture 14 Lab 7 | Week 9 Lecture 15 Lecture 16 Lab 8 | Week 10 Lecture 17 Lecture 18 Lab 9 | Week 11 Lecture 19 Lecture 20 Lab 10 | Week 12 Lecture 21 Lecture 22 Lab 11 | Week 13 Lecture 23 Lecture 24 Lab 12 | 2015 Projects: Three Person Embryos | Ovarian Hyper-stimulation Syndrome | Polycystic Ovarian Syndrome | Male Infertility | Oncofertility | Preimplantation Genetic Diagnosis | Students | Student Designed Quiz Questions | Moodle page

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