Alex Vieira: Lead Editor

All Articles Within Genes and Disease (53)

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Epigenetics and Disease (2)

• Epigenetic Influences and Disease
  The behavior of a person's genes doesn't just depend on the genes' DNA sequence--it's also affected by so-called epigenetic factors. Changes in these factors can play a critical role in disease.
• Epistasis: Gene Interaction and the Phenotypic Expression of Complex Diseases Like Alzheimer's
  Did you know that genes can mask and alter the effects of other genes? Could this process, called epistasis, be a key to understanding complex conditions like Alzheimer’s disease and diabetes?

Genetic Origin of Disease (7)

• Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders
  What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns.
• Genomic Imprinting and Patterns of Disease Inheritance
  You're not an equal product of both parents' genes. Genomic imprinting, a process whereby only one gene copy is expressed, not only exists but, combined with mutations, may lead to disease.
• Same Genetic Mutation, Different Genetic Disease Phenotype
  Three individuals carry the same disease-causing mutation; two suffer from the disease but exhibit different symptoms, while the third is completely unaffected. Why?
• Complex Diseases: Research and Applications
  Genetics seemed to promise incredible advances in the fight against disease, yet new cures and treatments have been slow to arrive. Why?
• Gene Interaction and Disease
  Many human diseases are multigenic, meaning they result from mutations in multiple genes. How are the complex traits of these diseases identified and treated?
• mtDNA and Mitochondrial Diseases
  Did you know that you have a second genome? Small cellular organelles called mitochondria contain their own circular DNA. What happens to your cells when this DNA mutates?
• DNA Deletion and Duplication and the Associated Genetic Disorders
  Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes?

Tracking Disease Inheritance (5)

• Multifactorial Inheritance and Genetic Disease
  Multifactorial diseases, such as coronary artery disease, can be as complex as their name suggests. How much can we hope to understand about diseases with such variation in inheritance?
• Complex Diseases: Research and Applications
  Genetics seemed to promise incredible advances in the fight against disease, yet new cures and treatments have been slow to arrive. Why?
• Gene Interaction and Disease
  Many human diseases are multigenic, meaning they result from mutations in multiple genes. How are the complex traits of these diseases identified and treated?
• Gene Mapping and Disease
  What's the easiest way a researcher can perform a linkage analysis and map genes to chromosomes? By using his own family's blood! See how Roger Donahue mapped the first gene to an autosome.
• Polygenic Inheritance and Gene Mapping
  Ever griped about your height? Figuring out its origins hasn't been any easier for geneticists who are turning to high-throughput, genome-wide association studies for clues.

The Genetics of Microbes (4)

• Antibiotic Resistance, Mutation Rates and MRSA
  In bacteria, mutations in plasmids can accumulate surprisingly fast. What does this mean for us humans, who have to fight with these new antibiotic resistant strains?
• Genetics of the Influenza Virus
  Periodically, the yearly flu transforms into a particularly virulent strain, like the Spanish flu that killed millions of people in 1918. How do these pandemic strains arise?
• Genetic Origins of Microbial Virulence
  How do scientists discover which genes make pathogenic microbes particularly virulent? In other words, why doesn't eating raw oysters always kill us?
• Pathogenicity: Microbial Virulence
  Worldwide, infectious diseases cause over 10 million deaths each year. Learn how pathogenicity islands and bacteriophage genes end up making these potent viruses.

The Genetic Basis of Cancer (10)

• Genetic Causes of Adult-Onset Disorders
  As you age, your chances of getting heart disease, cancer, and diabetes increase. But what makes the aging adult population so vulnerable? What role do genes play in the onset of these disorders?
• Chromosome Abnormalities and Cancer Cytogenetics
  Thousands of chromosomal aberrations have been discovered in different types of cancer. But how do these various changes all hijack normal cellular processes to promote cancer?
• Genetic Regulation of Cancer
  In cancer, one of the leading causes of death in the US, cells divide wildly out of control. Can tumor suppressor genes and proto-oncogenes provide clues on how to stop this process?
• Proto Oncongenes to Oncogenes to Cancer
  What drives cancer cells to grow and divide uncontrollably turning into cancer? Studies of proto-oncogenes reveal some clues about how normal cellular processes mutate and go awry.
• Tumor Suppressor (TS) Genes and the Two-Hit Hypothesis
  Tumor suppressor genes act as “brakes” to stop cells before they can travel down the road to cancer. A loss of function mutation in these genes can be disastrous.
• Genetic Diagnosis: DNA Microarrays and Cancer
  Since their development in the mid-1990s, DNA microarrays have become a key tool in the fight against cancer. But just how do they help diagnose and treat patients?
• Human Chromosome Translocations and Cancer
  Translocations generate novel chromosomes, but are often linked to disorders like infertility and cancer. How do these new chromosomes generate problems, and how are they detected?
• L. H. Hartwell's Yeast: A Model Organism for Studying Somatic Mutations and Cancer
  Think yeast just belongs in the kitchen? Mitosis in baker’s yeast can also tell us about mutations that cause cancer.
• Genes, Smoking, and Lung Cancer
  Imagine reading this warning on a cigarette package: Smokers with a particular mutation have a dramatically higher risk of developing lung cancer. Would you get tested for this mutation?
• Gleevec: The Breakthrough in Cancer Treatment
  How do scientists develop new treatments for disease? With Gleevec, a remarkable cancer drug, the approach was to target the disease at the cellular and subcellular level.

Identifiable Genetic Disease (9)

• Genetic Causes of Adult-Onset Disorders
  As you age, your chances of getting heart disease, cancer, and diabetes increase. But what makes the aging adult population so vulnerable? What role do genes play in the onset of these disorders?
• Birth Defects: Prevention and Treatment
  Birth defects are the leading cause of infant mortality worldwide, with those who survive infancy often struggling with lifelong physical and mental disabilities. Can we prevent this?
• Birth Defects: Causes and Statistics
  Every year, about 7.9 million infants (6% of worldwide births) are born with serious birth defects. With the causes of over 50% of birth defects unknown, how do we diagnose and prevent them?
• Trisomy 21 Causes Down Syndrome
  A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?
• Somatic Mosaicism and Chromosomal Disorders
  Could two pieces of a stone mosaic ever be identical? Of course, the answer is no--and each stone’s variation subtly contributes value to the finished work. Why should your cells be any different?
• Huntington's Disease: The Discovery of the Huntingtin Gene
  Huntingtin was the first disease gene mapped to a specific chromosome. How did scientists do it and what have we learned since then?
• Sex-linked Diseases: The Case of Duchenne Muscular Dystrophy (DMD)
  Prenatal diagnostic testing can now determine whether a fetus carries a debilitating or fatal sex-linked mutation. But with such screening, why hasn’t the disease allele frequency gone down?
• Copy Number Variation and Genetic Disease
  Did you know that a large number of your genes exist in variable numbers of copies? While they can overlap with disease-related genes, these variants exist in healthy individuals too.
• Embryo Screening and the Ethics of Human Genetic Engineering
  What if you could screen embryos for diseases before they became babies? What if you had the power to choose the traits your baby would have? Would you use it?

The Study of Genetics and Disease (15)

• Rare Genetic Disorders: Learning About Genetic Disease Through Gene Mapping, SNPs, and Microarray Data
  Most diseases are caused by mutations in more than one gene. So what clues can monogenic, or single-gene disorders provide?
• Gene-Based Therapeutic Approaches
  Can we take genetic “pills” for disease-related mutations? No, not yet, but our knowledge of the human genome sequence has enabled the development of other gene-based therapeutic approaches.
• Cytogenetic Methods in Diagnosing Genetic Disorders
  Since genes are packed into chromosomes, abnormal chromosomes can actually cause genetic diseases. What methods have scientists invented to study these abnormalities?
• Cytogenetic Methods and Disease: Flow Cytometry, CGH and FISH
  Some diseases involve regions of chromosomes that have been flipped or damaged. Find out what techniques scientists are using to dissect these chromosomes at the molecular level.
• Personalized Medicine: Hope or Hype?
  Hippocrates used a person’s physique and the seasons to personalize treatments for his patients. The modern scientific industry hopes to use your DNA.
• Genetic Diagnosis: DNA Microarrays and Cancer
  Since their development in the mid-1990s, DNA microarrays have become a key tool in the fight against cancer. But just how do they help diagnose and treat patients?
• L. H. Hartwell's Yeast: A Model Organism for Studying Somatic Mutations and Cancer
  Think yeast just belongs in the kitchen? Mitosis in baker’s yeast can also tell us about mutations that cause cancer.
• The Use of Animal Models in Studying Genetic Disease: Transgenesis and Induced Mutation
  You are more like a mouse than you might think! Today, scientists are creating models of human genetic disease using mice, flies, worms, and other animals. But what do these models reveal about us?
• Genome-Wide Association Studies (GWAS) and Obesity
  Researchers are using high-throughput genome-wide association studies to tackle some of today's hardest diseases such as obesity. What do gene networks tell us about this epidemic?
• Using SNP Data to Examine Human Phenotypic Differences
  Genetic variation among human races can be observed in almost any trait, from the physical and biochemical, to disease resistance. What role do single nucleotide polymorphisms play in this?
• Genome-Wide Association Studies and Human Disease Networks
  Human disease networks and disease gene networks are used to organize a tremendous amount of medical knowledge. But can these tools also give us new clues regarding cures and treatments?
• Genetic Variation and Disease: GWAS
  Genome-wide association studies (GWAS) help scientists understand the inheritance patterns of disorders on a global scale. But can we make predictions from these studies?
• Embryo Screening and the Ethics of Human Genetic Engineering
  What if you could screen embryos for diseases before they became babies? What if you had the power to choose the traits your baby would have? Would you use it?
• Polygenic Inheritance and Gene Mapping
  Ever griped about your height? Figuring out its origins hasn't been any easier for geneticists who are turning to high-throughput, genome-wide association studies for clues.
• Ontologies: Scientific Data Sharing Made Easy
  An ontology is a logic-based organizational structure for knowledge. Ontologies speed genetic discovery by allowing researchers to quickly find and compare data from multiple sources.