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Chromosomal in Medical News

Comprehensive Look at Rare Leukemia Finds Relatively Few Genetic Changes Launch Disease

... lacked additional DNA abnormalities. Certain chromosomal re-arrangements are known as translocations. ... genes. The study also reports cryptic chromosomal translocations in 14 percent of patients in this ... focal CNAs adjacent to genes previously linked to chromosomal translocations. Those genes are MLL , MLLT4 , ...

Scientists Spot Stroke Genes

... chromosomal region contains two suspect variants that raise ... (HealthDay News) -- Scientists have identified a chromosomal region that may contain two genetic variants ... two polymorphisms that were located in the same chromosomal region." The researchers replicated the ...

Cold Spring Harbor science teams identify 13 new tumor-suppressor genes in liver cancer

... 100 patients to compile a list of deletions of chromosomal regions. These regions were hypothesized to be ... of approximately 300 genes within the deleted chromosomal segments. chromosomal deletions aren't limited to cancer-related genes ...

The first autism disease genes

... Fragile X Syndrome, Tuberous Sclerosis or diverse chromosomal abnormalities (mean observed rates between ... of multiple independent whole genome scans and chromosomal abnormality studies have pointed out several ... discovery led to the detection of sub-microscopic chromosomal abnormalities (Autism Genome Project, 2007): Copy ...

Some Hiroshima Survivors at Thyroid Cancer Risk

... Radiation may have caused chromosomal change that raises odds for malignancy, study ... relatively rare disease trigger -- involving the chromosomal rearrangement of the RET/PTC gene -- seems to be ... uncovered evidence of similar (but not identical) chromosomal rearrangements among childhood survivors of the ...

Prenatal biochemical screening only detects half of chromosomal abnormalities

... screening tests are widely used to look for chromosomal abnormalities in the fetus which can lead to ... only able to detect fewer than half of the total chromosomal abnormalities in the fetus, a scientist will tell ... of these tests in detecting a limited number of chromosomal abnormalities." After analysing the results of ...

Combined physical and genetic map finds cancer's 'ignition key'

... expertise of his group to uniquely characterize chromosomal regions involved in genomic imbalances, ... malignancies. Map leads way to six chromosomal regions The 29-page paper, which covers ... Next, they employed 787 DNA markers to identify chromosomal regions that display genetic deletions. By ...

Genetic Changes May Dictate Course of Acute Myeloid Leukemia

... the disease. In about half of AML patients, chromosomal changes help guide doctors to select specific ... half of patients whose cancers don't have chromosomal abnormalities remains a challenge. "We don't ... to predict the outcome of patients with no chromosomal abnormalities." Marcucci and his team analyzed ...

Leicester scientist announces 'unexpected and exciting advance' in study of cancer type

... has recently identified a series of ten novel chromosomal translocations in children and young adults with ... within DNA that are repaired incorrectly. chromosomal translocations play a pivotal role in the ... commented: The identification of so many new chromosomal translocations in ALL is unexpected and is very ...

Test gives insight into prognosis in patients with plasma cell malignancies, finds Mayo Clinic study

... better than conventional methods in identifying chromosomal genetic abnormalities associated with plasma cell malignancies. This improved chromosomal analysis may help physicians better assess a ... for fluorescence in situ hybridization, detected chromosomal abnormalities in 67 percent of 1,548 patients ...

Test Spots Genetic Damage Done by Smoking

... the researchers to screen people for evidence of chromosomal abnormalities in the lungs that are found among ... for screening interventions, given that once chromosomal abnormalities occur, they are considered ... in situ hybridization (FISH) -- to check the chromosomal status of lung tissue among 71 people. Fourteen ...

New technique detects specific chromosomal damage, may indicate lung cancer risk

... are not random, but are associated with specific chromosomal instabilities that may be indicative of future ... M.D., also of UCHSC, targeted these non-random chromosomal changes in the study. The investigators used ... researchers found a marked difference between the chromosomal abnormality index (CAI) of never-smokers and that ...

Chromosome Abnormality Tied to Autistic Behavior in Mice

... appears in the June 26 issue of the journal Cell . The duplicated chromosomal region in mice is the equivalent of human chromosome 15q11-13, which is duplicated in about 5 percent of all people with autism. It is believed that chromosomal abnormalities account for 10 to 20 percent of autism cases, according to a ...

USC researchers identify DNA mutation that occurs at beginning point of T-cell lymphoma

... researchers with the clearest insight yet into why these breakagescalled chromosomal translocationsoccur at a specific points in the chromosome, says principal ... Cell, in which Lieber and colleagues determined how the most common chromosomal translocation in B cell lymphoma occurs. Researchers at USC have been ...

'Ambry Genetics Announces Launch of Chromosomal Microarray to Offer Whole Genome Analysis'

... -- Ambry Genetics is pleased to announce the launch of whole-genome chromosomal Microarray Analysis (CMA), offering the Ambry CMA: 105K Oligo Array, which is designed to identify chromosomal abnormalities associated with over 270 genetic disorders. In a ...

Pilots May Face Greater Cancer Risk

... Since translocations aren't eliminated from the blood like other forms of chromosomal abnormalities, they serve as a reliable indicator of cumulative DNA damage ... doses of ionizing radiation, said the researchers, who noted that chromosomal abnormalities have been linked with an increased risk of cancer. The ...

Triathlete Michael Hennessey Completes 15th Ironman Competition

... simple: To create much needed awareness, education, and support for the chromosomal disorders Trisomy 13 and 18 through the racing of an extreme amount of ... . WHAT IS TRISOMY: A trisomy is a chromosomal anomaly that is characterized by the presence of an extra chromosome in ...

Genetic region linked to a 5 times higher lung cancer risk

... cancer, but the current study established a strong risk factor in this chromosomal region for the kind of lung cancer that is inherited. Sporadic lung cancer ... risk for developing lung cancer compared to the control group. The chromosomal region that contains the high-risk-associated variations is the site of ...

Tufts researchers discover link between DNA palindromes and disease

... scientists have discovered that slow or altered replication causes chromosomal breaking. But why does DNA replication stall? In a Tufts University ... down, chromosomes break. "Stalled DNA replication could result in the chromosomal breakage during cell division, explaining why DNA palindromes are genomic ...

Sullivan wins NSF Career Award for research on therapeutic drug carriers

... that mimic elements of the architecture and function of histones in chromosomal DNA packaging. Histones are positively charged protein complexes that function as "spools" around which chromosomal DNA is wrapped. They display a series of peptide "tails" with specific ...

The good and bad side of anti-cancer compounds

... Biochemistry and Medicine, and colleagues initially set out to study how chromosomal translocations which happen when chromosomes break and rejoin, creating ... the breakpoints cause acute leukemias. He previously had found that a chromosomal translocation common in acute myeloid leukemias led to the formation of a ...

Inverted DNA turns quiet developmental gene into a potent driver of t-cell lymphoma

... slow the growth of lymphomas and other cancers in humans, they say. A chromosomal inversion essentially flips a segment of DNA, placing the Dlx5 gene next ... the Akt2 gene also over-expressed Dlx5. In fact, the researchers found the chromosomal inversion that led to cancer was a feature in the majority of mice ....

Patient with rare disorder responds to cancer drug

... out. In further studies, NIAID researchers and their collaborators found a chromosomal abnormality that led to the discovery of a fusion protein in the cell, ... this patient also is responding well. Identifying this newly recognized chromosomal abnormality and the fusion protein in patients who present with clinical ...

TGen-led team is 1 of 7 selected for $1 million skin-cancer grants

... study by a GenoMEL member group has identified a third. "We propose here to extend this collaborative effort by screening all genes at these three chromosomal locations for disease-predisposing mutations in melanoma families. We will also work towards identifying additional susceptibility genes by ...

Janet Rowley, MD, A Researcher Funded by The Leukemia & Lymphoma Society, Receives Presidential Medal of Freedom

... highest civilian honor, to Rowley and 15 others at a ceremony Aug. 12, 2009. Dr. Rowley is being recognized for her discoveries of recurring chromosomal abnormalities in leukemias and lymphomas -- findings that have revolutionized how cancer is understood and treated. Since 1984, LLS has awarded Dr. ...

Millennium Pharmaceuticals Inc./Lymphoma Research Foundation funds lymphoma research

... and in most cases involves the gastrointestinal tract and bone marrow. MCL is characterized by over expression of the gene cyclin D1 due to a chromosomal translocation. A subset of MCL also expresses higher levels of a group of small RNA molecules, called miR-17~92. Dr. Fu and his co-workers have ...

Studies shed light on preserving fertility among cancer patients

... with the sperm, a process necessary to create an embryo. When his research team used confocal microscopy to observe what was happening at a chromosomal level, they found that the structures needed to make the embryo's chromosomes align and divide were in place after only an hour. This indicates a ...

Larger hospital units have lower miscarriage rates after invasive pregnancy tests

... pregnant women has found that miscarriage rates following amniocentesis and chorionic villus sampling (CVS) - two invasive procedures to detect chromosomal abnormalities and birth defects - were 1.4 per cent and 1.9 per cent, respectively. The research, published in the July issue of Ultrasound in ...

Cepheid Announces European Release of Improved Test for BCR-ABL Chromosomal Translocation Associated With Chronic Myelogenous Leukemia (CML)

... CE IVD product under the European Directive on In Vitro Diagnostic Medical Devices. With improved time-to-results, the test now detects the BCR-ABL chromosomal translocation in about 2 hours as compared to 2.5 hours for the original product release. The test is intended to aid European clinicians in the ...

Adult Glioblastoma: Best Approaches to a Challenging Diagnosis

... curative, there is hope for improving outcomes for patients. In order to do this, healthcare professionals must have an understanding of glioblastoma chromosomal risk factors, new radiation therapy techniques, and strategies to overcome obstacles related to blood-brain barrier penetration. To address the ...

NYU School of Medicine pathology researchers solve another mystery in B lymphocyte development

... deficiency in ATM suffer more cancers arising from such translocations." Leukemias and lymphomas are very common cancers, especially in children. chromosomal translocations involving the antigen receptor loci are a common underlying mechanism. "V(D)J recombination plays a crucial role in the development ...

Science Zeroes In on New Alzheimer's Drug Target

... Technology, explained that the key player here is an enzyme called histone deacetylase-2 (HDAC2). HDAC2's job in the cell is to control how tightly chromosomal DNA wraps around protein spools called histones. Just how tightly or loose that binding is appears to influence cognition in mice, the researchers ...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

... York to perform microarray-based comparative genomic hybridization (aCGH) postnatal testing, using its ClariSure aCGH postnatal test, for copy-number chromosomal abnormalities implicated in mental retardation, birth defects, and autism spectrum and developmental disorders. The company also provides a ...

Scientists From 25 Countries Sequence Cow Genome

... of cow's milk and that's resulted in a change in the human genome so we are lactose-tolerant," Taylor said. In fact, the cow gene sequence and the chromosomal arrangements are more similar to humans than rodents. "That means when we try to understand human biology by studying genes in related organisms, we ...

New advances in cancer research to be highlighted at University of Leicester

... each one maintains the right genetic content required to sustain life. Loss of control over cell proliferation and the development of genetic and chromosomal abnormalities are classic hallmarks of cancer." Professor Fry added that the group's research falls into three broad areas: Study of a ...

PGD Technology Offers More Than Designer Babies

... 21, which indicates Down syndrome, or a single copy of the X chromosome which indicates Turner's syndrome. Similar techniques have been used for chromosomal translocations, common in miscarriages, X-linked genetic illness; gender identification for family balancing; and for HLA typing for use in cancer ...

New DNA Test Is Basis for Groundbreaking IVF Refund Plan, Easing Financial Burden for Patients

... or offers a full refund of the clinic's medical fees. CGH is an acronym for Comparative Genomic Hybridization--a genetic process that analyzes the chromosomal integrity of the egg or embryo prior to it being transferred to a woman's uterus in the course of In Vitro Fertilization. CGH reveals whether an ...

Scientists uncover indicator that warns leukemia is progressing to more dangerous form

... patients," said staff research associate and co-first author Annelie Abrahamsson. In CML, an enzyme called ABL goes in overdrive because of a chromosomal mix-up that occurs during blood cell development. The genes ABL and BCR fuse and produce a hybrid BCR-ABL enzyme that drives the excessive ...

New study aims to reduce risk of childhood leukemia

... affect the unborn baby's risk of developing leukaemia in childhood. Dr Cooke sees the study as a unique opportunity to determine the sources of chromosomal alterations during pregnancy, with the ultimate aim of reducing the risk of childhood leukaemias. Leukaemia is a cancer of the bone marrow and ...

Biologist finds plant polymerases IV and V are really variants of Polymerase II

... that specify the silencing of matching DNA sequences, whereas Pol V makes longer RNAs that are thought to pair with the siRNAs at the affected chromosomal sites. Pikaard and his colleagues' work may have implications for applied medical research. For instance, gene therapy procedures sometimes ...
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