15 posts · 9,182 views
This website presents the fundamental of genetics, and the latest developments in research related to DNA, in a language every lay person can understand.
Rick Scavetta
15 posts
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- March 11, 2010
- 05:30 AM
- 634 views
The Common Genetic Causes of Celiac Disease
by Rick Scavetta in DNA Dude
Celiac disease is characterized by an immune response to glutin and similar proteins found in wheat, rye and barley. For individuals with celiac disease, eating glutin results in an inflammed small intestine, diarrhea and fatigue, among other symptoms. It’s estimated that about 1% of all Americans suffer from celiac disease. Given the heritability of [...]... Read more »
Dubois, P., Trynka, G., Franke, L., Hunt, K., Romanos, J., Curtotti, A., Zhernakova, A., Heap, G., Ádány, R., Aromaa, A.... (2010) Multiple common variants for celiac disease influencing immune gene expression. Nature Genetics. DOI: 10.1038/ng.543
- March 10, 2010
- 08:37 AM
- 684 views
Variable Expressivity and Epistasis, or, Why You Don’t Have Autism
by Rick Scavetta in DNA Dude
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Variable expressivity and epistasis go hand in hand when talking about genetic disorders. Knowing what they mean will help you really understand the kind of complications researchers are up against. In this article I’ll illustrate these concepts using a recently published paper on the causes of autism as an example.
One of the genetic risk factors [...]... Read more »
Veltman, J., & Brunner, H. (2010) Understanding variable expressivity in microdeletion syndromes. Nature Genetics, 42(3), 192-193. DOI: 10.1038/ng0310-192
Girirajan, S., Rosenfeld, J., Cooper, G., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S., Baker, C.... (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. DOI: 10.1038/ng.534
- March 9, 2010
- 05:33 AM
- 584 views
What are Anticancer Genes?
by Rick Scavetta in DNA Dude
We know that lots of genes are involved in cancer progression. For example, you’ve probably read something like “scientists have found the gene for such-and-such cancer” or something similar. What does that really mean? Are there really genes which cause cancer? And why do we have those genes anyways, if that’s all they do?
Generally speaking, [...]... Read more »
Grimm, S., & Noteborn, M. (2010) Anticancer genes: inducers of tumour-specific cell death signalling. Trends in Molecular Medicine, 16(2), 88-96. DOI: 10.1016/j.molmed.2009.12.002
- March 8, 2010
- 08:27 AM
- 541 views
Tumors From Stem Cells?
by Rick Scavetta in DNA Dude
One of the most striking features about tumors is that they have many, many mutations, all over the genome. To make things more complicated, not every cell in a tumor will have the same set of mutations. A tumor is a very heterogeneous (mixed) bunch of cells.
The presence of so many mutations led researchers to [...]... Read more »
KLONISCH, T., WIECHEC, E., HOMBACHKLONISCH, S., ANDE, S., WESSELBORG, S., SCHULZEOSTHOFF, K., & LOS, M. (2008) Cancer stem cell markers in common cancers – therapeutic implications. Trends in Molecular Medicine, 14(10), 450-460. DOI: 10.1016/j.molmed.2008.08.003
- February 9, 2010
- 06:29 AM
- 519 views
Uncovering the Genetic Controls of Cellular Aging
by Rick Scavetta in DNA Dude
A fascinating thing about DNA replication is that the actual process lacks the ability to replicate the very ends of chromosomes. That means chromosomes should get shorter with every round of cell division (DNA replication), but they remain more or less the same length, getting gradually shorter with aging. The natural shortening of chromosomes is [...]... Read more »
Shore, D., & Bianchi, A. (2009) Telomere length regulation: coupling DNA end processing to feedback regulation of telomerase. The EMBO Journal, 28(16), 2309-2322. DOI: 10.1038/emboj.2009.195
Codd, V., Mangino, M., van der Harst, P., Braund, P., Kaiser, M., Beveridge, A., Rafelt, S., Moore, J., Nelson, C., Soranzo, N.... (2010) Common variants near TERC are associated with mean telomere length. Nature Genetics. DOI: 10.1038/ng.532
- February 2, 2010
- 03:56 AM
- 552 views
The Genetics of Memory
by Rick Scavetta in DNA Dude
When geneticists want to uncover genetic associations for a particular disease, they can compare specific genetic variants (alleles) present in a large group of individuals with the disease to those present in a large group without the disease. The basic logic is that variants over-represented- or only found in- the disease population, are associated with [...]... Read more »
Papassotiropoulos, A., Henke, K., Stefanova, E., Aerni, A., Müller, A., Demougin, P., Vogler, C., Sigmund, J., Gschwind, L., Huynh, K.... (2009) A genome-wide survey of human short-term memory. Molecular Psychiatry. DOI: 10.1038/mp.2009.133
- February 1, 2010
- 12:01 PM
- 529 views
Elongator: Insights into Neurological Disorders
by Rick Scavetta in DNA Dude
A striking discovery in medical genetics is that some apparently disparate diseases may have similar underlying genetic dysfunctions.
Take for example, familial dysautonomia (FD), described in Slaugenhaupt et al. (2001):
The loss of neuronal function in FD has many repercussions, with patients displaying gastrointestinal dysfunction, abnormal respiratory responses to hypoxic and hypercarbic states, scoliosis, gastroesophageal reflux, vomiting [...]... Read more »
Nguyen, L., Humbert, S., Saudou, F., & Chariot, A. (2010) Elongator – an emerging role in neurological disorders. Trends in Molecular Medicine, 16(1), 1-6. DOI: 10.1016/j.molmed.2009.11.002
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L.... (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. American journal of human genetics, 68(3), 598-605. PMID: 11179008
- January 28, 2010
- 07:05 AM
- 659 views
Therapeutic Gene Silencing Strategies: An Introduction
by Rick Scavetta in DNA Dude
There has been quite a buzz circulating about the possibility of therapeutic gene silencing strategies. Today I want to take a first look at what these therapies mean.
One great example where gene silencing could be used is in polyglutamine disorders. This includes several disorders where genes accumulate, by replication errors, a repeat expansion of the [...]... Read more »
Scholefield, J., & Wood, M. (2010) Therapeutic gene silencing strategies for polyglutamine disorders. Trends in Genetics, 26(1), 29-38. DOI: 10.1016/j.tig.2009.11.005
- January 25, 2010
- 08:43 AM
- 632 views
Exomes and Rare Disorders: Baby Steps to Personalized Medicine
by Rick Scavetta in DNA Dude
A study published in this month’s issue of Nature Genetics may provide insight into the future techniques of personalized medicine.
The articles deals with technical advancements and a proof-of-principle study in identifying the causes underlying rare Mendelian disorders.
The techniques involved re-sequencing (another name for next-generation sequencing and massively parallel sequencing) of the exome. That is [...]... Read more »
Biesecker, L. (2010) Exome sequencing makes medical genomics a reality. Nature Genetics, 42(1), 13-14. DOI: 10.1038/ng0110-13
- January 14, 2010
- 05:45 AM
- 563 views
Migraines and Depression, or, How to Uncover Genetic Links Without Using DNA
by Rick Scavetta in DNA Dude
The first step in understanding a genetic disease is learning to which extent genetics play a role in it’s development, i.e. Is is really a genetic disease? For many illnesses, it’s not entirely clear what role genetics versus environment play, or how complex their interaction is. There are several tests geneticists can use to uncover [...]... Read more »
Stam, A., de Vries, B., Janssens, A., Vanmolkot, K., Aulchenko, Y., Henneman, P., Oostra, B., Frants, R., van den Maagdenberg, A., Ferrari, M.... (2010) Shared genetic factors in migraine and depression. Evidence from a genetic isolate. Neurology. DOI: 10.1212/WNL.0b013e3181cbcd19
- January 13, 2010
- 07:41 AM
- 692 views
CETP: The Cure for What Ails You
by Rick Scavetta in DNA Dude
CEPT is a gene that has been the darling of medical genetics for some time. It’s latest foray into health matters is what appears to be an association between a specific variant (read allele) and a decreased incidence of Alzheimer’s Disease (AD). So before I get into the newest research, let’s take a look at [...]... Read more »
Sanders, A., Wang, C., Katz, M., Derby, C., Barzilai, N., Ozelius, L., & Lipton, R. (2010) Association of a Functional Polymorphism in the Cholesteryl Ester Transfer Protein (CETP) Gene With Memory Decline and Incidence of Dementia. JAMA: The Journal of the American Medical Association, 303(2), 150-158. DOI: 10.1001/jama.2009.1988
- January 12, 2010
- 07:03 AM
- 803 views
What’s The Use of a Cancer Marker?
by Rick Scavetta in DNA Dude
For men, prostate cancer accounts for 25% of all cancer cases. But diagnosing the cancer is not without controversy.
The usual method of detecting the cancer is by screening for Prostate-Specific Antigen (PSA), which can lead to early detection and treatment of the disease. Some studies have shown that the PCA test results in high amounts [...]... Read more »
Xu, J., Zheng, S., Isaacs, S., Wiley, K., Wiklund, F., Sun, J., Kader, A., Li, G., Purcell, L., Kim, S.... (2010) Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Proceedings of the National Academy of Sciences. DOI: 10.1073/pnas.0914061107
- January 7, 2010
- 06:48 AM
- 561 views
Devil’s Facial Tumor: Tracing Origins with Next-Gen Seuqencing
by Rick Scavetta in DNA Dude
Since the mid 90s everyones favourite carnivorous marsupial, the Tasmanian Devil, has been suffering from an unusual from of cancer called Devil Facial Tumor Disease. What’s so unusual about this cancer is that it’s transmissible. That means it can be passed onto another, unrelated animal. This occurs through biting during mating and feeding when the [...]... Read more »
Murchison, E., Tovar, C., Hsu, A., Bender, H., Kheradpour, P., Rebbeck, C., Obendorf, D., Conlan, C., Bahlo, M., Blizzard, C.... (2009) The Tasmanian Devil Transcriptome Reveals Schwann Cell Origins of a Clonally Transmissible Cancer. Science, 327(5961), 84-87. DOI: 10.1126/science.1180616
- January 7, 2010
- 06:48 AM
- 587 views
Devil’s Facial Tumor: Tracing Origins with Next-Gen Sequencing
by Rick Scavetta in DNA Dude
Since the mid 90s everyones favourite carnivorous marsupial, the Tasmanian Devil, has been suffering from an unusual from of cancer called Devil Facial Tumor Disease. What’s so unusual about this cancer is that it’s transmissible. That means it can be passed onto another, unrelated animal. This occurs through biting during mating and feeding when the [...]... Read more »
Murchison, E., Tovar, C., Hsu, A., Bender, H., Kheradpour, P., Rebbeck, C., Obendorf, D., Conlan, C., Bahlo, M., Blizzard, C.... (2009) The Tasmanian Devil Transcriptome Reveals Schwann Cell Origins of a Clonally Transmissible Cancer. Science, 327(5961), 84-87. DOI: 10.1126/science.1180616
- January 6, 2010
- 10:00 AM
- 642 views
Four Scary Words: Cancer-Specific Chimeric Transcripts
by Rick Scavetta in DNA Dude
Studying the genetics of cancer often involves looking specifically at cancerous cells (that is, tumor cells) and asking what is different about those cells than the regular cells they were before.
For example, what mutations are present in the DNA of a cancer cell, that could be the cause of the cancer? Also… different genes could [...]... Read more »
Cruickshanks, H., & Tufarelli, C. (2009) Isolation of cancer-specific chimeric transcripts induced by hypomethylation of the LINE-1 antisense promoter. Genomics, 94(6), 397-406. DOI: 10.1016/j.ygeno.2009.08.013
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