Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. Chromosome 6 spans about 171 million base pairs (the building blocks of DNA) and represents between 5.5 percent and 6 percent of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 6 likely contains between 1,100 and 1,600 genes.
Genes on chromosome 6 are among the estimated 20,000 to 25,000 total genes in the human genome.
The gene for a newly recognized disease has been identified thanks to the determination of an Amish father and the clinical skills and persistence of Indiana University and Riley Hospital for Children physicians in collaboration with physicians and researchers at the Clinic for Special Children in Lancaster County, Penn., which specializes in disorders of the Amish.
Research Down Syndrome has launched an international outreach program to focus awareness and support for the rapidly advancing area of biomedical research leading to safe and effective approved medical therapies to treat cognitive impairment in individuals of all ages with Down syndrome -- improving memory, learning and communication.
Scientists have identified a region of a human chromosome that is associated with eosinophilic esophagitis (EoE), a recently recognized allergic disease. People with EoE frequently have difficulty eating or may be allergic to one or more foods. This study further suggests that a suspected so-called master allergy gene may play a role in the development of this rare but debilitating disorder.
Pediatrics researchers have identified the first major gene location responsible for a severe, often painful type of food allergy called eosinophilic esophagitis (EoE). In this disease, which may cause weight loss, vomiting, heartburn and swallowing difficulties, a patient may be unable to eat a wide variety of foods.
ARIAD Pharmaceuticals, Inc. today announced that its investigational pan-BCR-ABL inhibitor, AP24534, has been granted orphan drug designation by both the U. S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA). In the U.S., the orphan designation of AP24534 is for the treatment of chronic myeloid leukemia (CML) and Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) and in the E.U., its orphan designation is for CML and acute lymphoblastic leukemia.
Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing genetic testing, close to 80 percent had never talked to their physician about genetic screening – an inconsistency that can have serious implications on a person's overall health and the health of their immediate family members.
Between 5 and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20 to 30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia (DS-AMKL), which affects the blood progenitor cells that form red blood cells and platelets.
For people who carry common gene variants, cigarette smoking greatly increases the risk that a blood vessel in the brain will weaken and balloon out - called an aneurysm - which could be life-threatening if it ruptures, according to research presented at the American Stroke Association's International Stroke Conference 2010.
Researchers have found that one particularly aggressive type of blood cancer, mixed lineage leukemia (MLL), has an unusual way to keep the molecular motors running. The cancer cells rely on the normal version of an associated protein to stay alive.
Ferring Pharmaceuticals and Gene Security Network announced that they have signed an agreement to conduct a clinical trial of GSN's advanced preimplantation genetic diagnosis (PGD) technology, Parental Support™.
QR Pharma, Inc., a developer of novel drugs to treat Alzheimer’s disease (AD), announced today that it was issued U.S. Patent No. 7,625,942, a "Method of Treating Down Syndrome" by the U.S. Patent and Trademark Office. The '942 patent covers use of Posiphen and analogs to treat cognitive impairments associated with Down Syndrome (DS). This patent valuably expands upon the original Posiphen and analog patent that claims composition of matter and use of compounds to lower amyloid-β precursor protein (APP) and thereby treat dementia and Alzheimer’s disease (AD).
Regulatory proteins common to all eukaryotic cells can have additional, unique functions in embryonic stem (ES) cells, according to a study in the February 22 issue of the Journal of Cell Biology (www.jcb.org). If cancer progenitor cells-which function similarly to stem cells-are shown to rely on these regulatory proteins in the same way, it may be possible to target them therapeutically without harming healthy neighboring cells.
Israeli and American researchers have identified new genetic data that could be used in the future to predict who will develop end-stage kidney disease (ESKD). ESKD requires dialysis or transplantation to sustain life, and is fatal in most regions of the world, where these treatments are not available.
Scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory have learned how an interval of DNA in an unexplored region of the human genome increases the risk for coronary artery disease, the leading cause of death worldwide.
Researchers at the Sahlgrenska Academy at the University of Gothenburg, Sweden and Karolinska Institutet have used novel technology to reveal the different genetic patterns of neuroblastoma, an aggressive form of childhood cancer. This discovery may lead to significant advances in the treatment of this malignant disease, which mainly affects small children.
Atrial fibrillation is a cardiac arrhythmia - a chronic irregularity of heartbeat - which affects an estimated 1 million people in Germany. Although the condition is not acutely life-threatening, it does increase the risk of developing more serious illnesses, such as cardiac insufficiency, stroke and dementia. In the third of a series of genomewide asssociation studies, an international team of researchers, led by LMU physician PD Dr. Stefan K--b, now reports the identification of a new gene locus that has a significant influence on risk for atrial fibrillation.
An international research team has identified a common gene variant associated with a form of the irregular heartbeat called atrial fibrillation. In their report in the journal Nature Genetics, being published online, the investigators describe finding that variations affecting a protein that may help control the heart's electrical activity appear to increase the risk of what is called lone atrial fibrillation (AF), a type seen in younger individuals with no other form of heart disease.
More than three million children have been born as a result of assisted reproductive technologies since the birth of the first "test tube baby" in 1978. While the majority of these children are healthy and normal, as a group they are at greater risk of certain kinds of birth defects and being low birth weight, which is associated with obesity, hypertension and type 2 diabetes later in life.
Doctors can now understand better chronic myeloid leukaemia (CML), including how it responds to therapy, thanks to a new mathematical model for the disease, developed by scientists in Portugal, Belgium and the United States. The work, to be published in the June edition of the journal Haematologica, also reveals that current therapies - which are not believed to cure CML - with the right protocol can actually get rid of the disease, and provides guidelines on how to do that.
A new study of mutations in cancer genomes shows how researchers can begin to distinguish the 'driver' mutations that push cells towards cancer from the 'passenger' mutations that are a by-product of cancer cell development. The study also shows that at least one in nine genes can be removed without killing human cells.
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