Weekly KromoNews: Volume 4, Issue 13
Editor's Note
Pathology Central continues to grow:
Many of the pathologies in the Pathology Central have been comprehensively updated to include
latest genetics research articles, genetics tests and genetics videos.
Did you know you can contact a certified genetics counselor for free as part of your Kromosoft membership?
You can submit any genetics related question. We pool the questions and get the answers back to you.
Submit a question
Most visited pathologies in Pathology Central for the week of June 1 - June 7, 2008:
Breast Cancer
Melanoma
Cystic Fibrosis
New look Pathology Central: Newly improved
Pathology Central
allows you to easily view pathologies, genes, genetics tests and genetics organizations.
This Week in Genetics
Human stem cells used to cure brain disorder in mice
Jun 4, 2008
Human stem cells have been used to correct abnormal brain development in mice with fatal brain disorders, offering hope for treating a range of neurological disorders including some deadly childhood genetic diseases. Those behind the new treatment hope that human clinical trials could be just a few years away. The treatment uses human glial progenitor cells — cells that can differentiate into the glial cells that, among other things, make up myelin. Myelin, a protein that insulates the long 'arms' of nerve cells, called axons, helps the conduction of neural signals throughout the nervous system. A team led by Steven Goldman, at the University of Rochester in New York, took the progenitor cells from white matter in the fetal human brain and injected them into the spinal cords of mutant shiverer mice shortly after their birth.
Success in mice could be a breakthrough for disorders such as multiple sclerosis.
[Other]
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Discovery of new family of genetic mutations involved in inflammatory intestinal disease
Jun 2, 2008
Researchers have reporting finding common origins for two inflammatory diseases of the bowel. The research provides further support for the theory that common genetic factors are involved in a range of auto-immune and inflammatory diseases.
Using a genome-wide search, Dr. Zhernakova's team analysed genetic variants in 778 coeliac cases, and in 1422 controls from the UK. In phase II of this study the extensive collection of more than 5000 coeliac cases and controls from the UK Ireland and the Netherlands were followed up for the top 1000 variants detected in phase I. The researchers found genetic mutations in eight new areas, seven of which contained genes involved in controlling immune responses.
Dr. Festen's team analysed the genetic variants in the immune pathway in a three-step design in a group of 1851 patients with inflammatory bowel disease (IBD) and 1936 controls. The two most common manifestations of this condition are Crohn's disease and ulcerative colitis.
[Other]
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Researchers Find Abnormalities in Gene for Melanoma
May 29, 2008
Researchers have discovered that there are several different kinds of DNA abnormalities that can occur in a gene called the KIT gene. These abnormalities are associated with different kinds of acral and mucosal melanomas, which are less common, but highly malignant forms of skin cancer. Acral melanomas are found on the palms of hands, the soles of feet and under nails. Mucosal melanomas are found in the mucous membranes of some organs of the body.
In the current study, researchers studied 129 samples gathered from people with different types of melanoma and found that there is a high rate of mutations in these cancers.
[Other]
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Structure of the DNA Repair Helicase XPD revealed
May 30, 2008
Researchers have uncovered the structure of the XPD helicase. XPD helicase (Rad3 in Saccharomyces cerevisiae) is a component of transcription factor IIH (TFIIH), which functions in transcription initiation and Nucleotide Excision Repair in eukaryotes, catalyzing DNA duplex opening localized to the transcription start site or site of DNA damage, respectively. XPD has a 5′ to 3′ polarity and the helicase activity is dependent on an iron-sulfur cluster binding domain, a feature that is conserved in related helicases such as FancJ. The xpd gene is the target of mutation in patients with xeroderma pigmentosum, trichothiodystrophy, and Cockayne's syndrome.
[Cell]
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Featured Genetic Test: CF Complete, by Quest Diagnostics
CF Complete claims to be the most advanced Cystic Fibrosis Test, and offers the following features:
- Automated, full length sequencing of the CF gene
- Detects 99% of the 1,006 currently known CF mutations
- Detects CF mutations not found in routine screening
- Identifies rare familial CF mutations
- Complements, but does not replace, the routine CF screening panel recommended by ACMG and ACOG.
Use of the CF Complete test, can dramatically increase the CF
detection rate because it detects all but 13 of the currently known 1,006 mutations.
Nevertheless, the CF Complete test should not replace the general carrier screen test.
Rather, the CF Complete test should be used to identify rare familial mutations
in obligate CF carriers when they have tested negative in the routine screening test.
Find more details about this test
Ask a question about this test to a certified genetics counselor
Upcoming Genetics Event
Advances in qPCR |
| When: | Wed Sep 17, 2008 to Thu Sep 18, 2008 |
| Title: | Advances in qPCR |
| Description: | The inaugural Advances in qPCR conference and exhibition will be held in Stockholm, the hub of the Baltic region. Co-located with RNAi Europe, registered delegates will have access to both meetings. Make the most of your trip by attending the co-located training courses. Visit the website for further information. |
| Where: | Stockholm International Fairs & Congress Center, Stockholm, Sweden |
| Contact: | Enquiries |
| Email: | paul.raggett@selectbiosciences.com |
| Website: | http://www.selectbiosciences.com/conferences/AqPCR2008/ |
Genetics Term of the Week: Y-chromosome analysis
Y-chromosome analysis: Y-chromosome analysis is a type of cytogenetic study that is used in genealogy to establish a relation between males. It is also used in wide-scale anthropologic studies to establish a relation between ethnic groups that could have originated from the same ancestors but were later spread over distant territories. Y chromosome typically contains very few coding genes and is passed from generation to generation virtually unchanged. In addition, the proof-reading of Y-chromosome before copying is exquisitely accurate, which does not allow much of the copying errors to be passed from generation to generation. Read more
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