In this issue:    This Week in Genetics    Featured Genetic Test    Upcoming Genetics Event    Term of the Week: Interphase

Editor's Note

Happy New Year, and welcome to KromoNews, now in its 5th year (Volume 5!)

Without a doubt, 2008 was a momentous year in genetics. Here's my list of top 5 developments in genetics and health.

1. Passage of the Genetic Information Nondiscrimation Act (GINA) which makes it illegal for insurance copmanies to raise premiums or deny coverage based on genetic information. Employers are also prohibited from using genetic information to hire, fire, promote, or assign jobs.
2. Dr. Marjolein Kriek of Leiden University Medical Centre became the first woman (and the first European) to have her genome sequenced. This is especially important in terms gaining a deeper understanding of the female sex chromosome X.
3. The launch of personal genomic sequencing company, Knome, where anyone can get their entire genome sequenced for $350,000. In contrast, Complete Genomics can complete a human genome for just $5,000 although their services are for the research community only.
4. The launch of several personal genomics companies--23andMe, deCODEme, Navigenics--that offer direct-to-consumer genome scans that look at hundreds of thousands of single nucleotide polymorphisms (SNPs) with constantly updated information on the correlations of these SNPs with phenotypes and disease risks.
5. The reveal of the first 10 participants of Harvard's Personal Genome Project (personalgenomes.org) who plan to publicly share their data from their genome, personal habits, and health history.

Visit EyeOnDNA.com to see my predictions for 2009.

Later,
--
Dr. Hsien-Hsien Lei
Guest Editor, KromoNews
Dr Lei's profile

This Week in Genetics

Causative gene mutation for congenital neutropenia syndrome identified
Jan 3, 2009
A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). This discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients and knowledge about the underlying genetic defect is an important first step in developing a targeted therapy.
[New England Journal of Medicine]
Read Full Story

Genetic variation on Neuropeptide Y gene may lead to early cardiovascular disease
Jan 2, 2009
Researchers from Duke University Medical Center have identified a variation in a particular gene that increases susceptibility to early coronary artery disease. In a previous study, a region on chromosome 7 was linked to coronary artery disease (CAD). More recently, the researchers focused on identifying the gene in this region that confers risk of early-onset CAD and identified it as the neuropeptide Y (NPY) gene. NPY is one of the most plentiful and important proteins in the body and is a neurotransmitter related to the control of appetite and feeding behavior, among other functions. The current research found evidence for six related variations in the NPY gene that show evidence of transmission from generation to generation and association across a population of early-onset CAD patients.
[PLoS Genetics]
Read Full Story

In Lung Cancer, Silencing One Crucial Gene Disrupts Normal Functioning of Genome
Dec 31, 2008
While examining patterns of DNA modification in lung cancer, a team of international researchers has discovered what they say is a surprising new mechanism. They say that "silencing" of a single gene in lung cancer led to a general impairment in genome-wide changes in cells, contributing to cancer development and progression. They also report finding a strong link between modification of the key gene, MTHFR, and tobacco use by lung cancer patients - even if the patient had smoked for a short period of time.

The findings outlined in the article titled "Quantitative Analysis of DNA Methylation Profiles in Lung Cancer Identifies Aberrant DNA Methylation of Specific Genes and Its Association with Gender and Cancer Risk Factors" reinforce tobacco's link to lung cancer development, but show that deactivating one specific gene through a process known as hypermethylation causes systemic dysfunction, or hypomethylation, in many genes, said the study's senior investigator, Zdenko Herceg, Ph.D., head of the Epigenetics Group at the International Agency for Research on Cancer (IARC).
[Cancer Research]
Read Full Story

Featured Genetic Test: Alpha-Thalassemia
Alphaº-thalassemia results from deletion or dysfunction of two alleles, and α+-thalassemia results from deletion or dysfunction of one allele. Testing for α-thalassemia includes: hematologic testing of red blood cell indices, peripheral blood smear, supravital stain to detect RBC inclusion bodies, and qualitative and quantitative hemoglobin analysis. HBA1, the gene encoding α1-globin, and HBA2, the gene encoding α2-globin, are the two genes most commonly associated with α-thalassemia. Molecular genetic testing of HBA1 and HBA2 detects deletions in about 90% and point mutations in about 10% of affected individuals.

Find more details about this test
Ask a question about this test

Upcoming Genetics Event

1st International Conference on Bioinformatics and Computational Biology (BICoB) 2009
When:	Wed Apr 8, 2009 to Fri Apr 10, 2009
Title:	1st International Conference on Bioinformatics and Computational Biology (BICoB) 2009
Description:	This conference includes the topics of interest (and are not limited to): • Genome analysis: Genome assembly, genome and chromosome annotation, gene finding, alternative splicing, EST analysis and comparative genomics. • Sequence analysis: Multiple sequence alignment, sequence search and clustering, function prediction, motif discovery, functional site recognition in protein, RNA and DNA sequences. • Phylogenetics: Phylogeny estimation, models of evolution, comparative biological methods, population genetics. • Structural Bioinformatics: Structure matching, prediction, analysis and comparison; methods and tools for docking; protein design • Analysis of high-throughput biological data: Microarrays (nucleic acid, protein, array CGH, genome tiling, and other arrays), EST, SAGE, MPSS, proteomics, mass spectrometry. • Genetics and population analysis: Linkage analysis, association analysis, population simulation, haplotyping, marker discovery, genotype calling. • Systems biology: Systems approaches to molecular biology, multiscale modeling, pathways,gene networks.
Where:	Holiday Inn Downtown-Superdome, New Orleans, Louisiana, United States
Contact:	Mary Ann Sullivan
Email:	isca@ipass.net
Website:	http://bicob.engr.uconn.edu/bicob/

KromoNews is a weekly human genetics newsletter.
Subscribe     Unsubscribe     Privacy policy