Study describes basic mechanism in cell growth control involving damaged DNA
...age gene controlling Xeroderma pigmentosum, a rare hereditary disease involving a defect in DNA repair mechanisms induced by ultraviolet radiation. The disease is characterized by severe sensitivity to all sources of UV radiation, especially sunlight."CDT1 controls DNA replication, making sure DNA replicates on...Children's Hospital Boston geneticist awarded for research on muscular dystrophy
...on the genetics of muscular dystrophy, a family of hereditary muscle-destroying disorders marked by progressive muscle weakness and degeneration. The ASHG's prestigious Allan Award recognizes substantial and far-reaching contributions to human genetics carried out over a sustained period of scientific inquiry a...ASU gets grant to develop high speed DNA sequence reader
... information for genes now known to play a role in hereditary human diseases and diseases such as cancer that arise from damage to genetic material, also for about $1,000. The ability to sequence each person's genome could give rise to more individualized strategies for diagnosing, treating and preventing dise...Support for fragile X syndrome needed
...gile X syndrome is the world's most common form of hereditary mental retardation, with a prevalence of one in 3,500 males. (Girls with FXS usually have milder levels of intellectual difficulties than boys). Over 1,500 children across Quebec have FXS. Physical features associated with the condition include a lo...Other highlights in the November 3 JNCI
...he disease, but familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer account for less th...utations may account for a substantial fraction of hereditary colorectal cancers. Contact: Kathy Pyatt, Public Relations, Mt. Sinai Hospital, 416-586-5311, kpyat...Study reveals genetic link to colon cancer
... the disease then it may account for a fraction of hereditary colorectal cancers. The child of a couple that has one MYH gene carrier has a 1:2 risk of carrying the mutation and this translates into increased risk of developing the disease. "This is going to contribute to new knowledge of colon cancer an...Study links polycystic ovary syndrome with early vascular changes of heart disease
...day is increasingly being recognized as a lifelong hereditary reproductive endocrine condition with physical and emotional consequences. Common symptoms include infertility, irregular menstrual cycles, excess body hair, ovarian cysts, acne and obesity. The American Association of Clinical Endocrinologists issue...UCSD researchers find effective treatment for unusual fever syndrom caused by cold exposure
...r treatment of rheumatoid arthritis. FCAS is a hereditary disorder thought to affect nearly 300 Americans, w...nct, single-gene defects that are considered to be hereditary periodic fever disorders**, characterized by recurrent bouts of systemic inflammation involving seve...Can plant research lead to new insights in cancer research?
... Our body is constructed of cells that contain the hereditary material (DNA) distributed among chromosomes - 46 in human cells. Under normal circumstances, our body's cells divide continuously in a very controlled manner: every cell division is preceded by a doubling of the DNA, so that, after division, two cel...Genetic testing for Parkinson's disease on the horizon
...indicate that this mutation is associated with the hereditary form of the disease. Dr Bonifati comments: "This is a significant step forward in our understanding of the causes and mechanisms of Parkinson's disease, with implications for both the scientific and clinical communities. The main challenge is now to...Researchers discover way to make cells in the eye sensitive to light
...wavelengths to regenerate itself. In some forms of hereditary blindness photoreceptors are lost entirely, but th...itis pigmentosa. Retinitis pigmentosa is a form of hereditary blindness where the rods and cones are destroyed, but the rest of the eye and retina remains intact....Gene with broad role also causes prevalent, inherited nerve disorder
...00 people, making it one of the most common of all hereditary disorders, said the researchers. Their findings also reveal a previously unknown link between CMT and a deficiency of white blood cells, suggesting that defects in dynamin 2 might underlie both conditions, the researchers reported in the Jan. 30, 20...International HapMap consortium expands mapping effort
...e the work and expense of searching the genome for hereditary factors in common disease by a factor of 20 to 40 compared with current, brute force approaches. "This new partnership underscores the private sector's enthusiasm for the HapMap and its potential as a tool for the understanding of disease. The willin...Researchers find new technique to identify fetal genetic material from amniotic fluid
...niocentesis (removal of amniotic fluid to test for hereditary diseases and congenital defects in the fetus). "After extraction from the normally discarded fraction of amniotic fluid, RNA was amplified twice, labeled, and analyzed using gene expression microarrays." The researchers were able to study the exp...New technique may help detect fetal single gene disorders
...of biotechnology. Currently, prenatal diagnosis of hereditary genetic disorders relies on invasive procedures, such as amniocentesis or chorionic villous sampling [prenatal test that detects genetic abnormalities], which are associated with a small, but significant risk of fetal loss, the authors provide as bac...Embryonic stem cells treated with growth factor reverse hemophilia in mice
...ubstance factor IX, which in humans results in the hereditary bleeding disorder known as hemophilia B. This disease, much less common than hemophilia A, affects roughly one of every 35,000 people, primarily males. Although embryonic stem, or ES, cells can differentiate into most cell types in the body, numerou...Certain genetic test helps detect mutations that may be missed by conventional DNA test
...ying certain mutations. Samples from a total of 64 hereditary nonpolyposis colorectal cancer cases, 8 hereditary nonpolyposis colorectal cancer-like cases, and 17 cases diagnosed prior to age 50 years were analyze...Urgent measures needed to retain our lead in pharmaceuticals
...media hype about the expectation of treatments for hereditary illnesses in the near future, biotechnology firms are now educating the public and patients about what they can realistically expect from the science." Amplifying this, Dr. Adam Hedgecoe, University of Sussex finds that "Learning the lessons of previ...New NIST reference material reinforces fragile-x screens
...heir diagnostic tests for the most common cause of hereditary mental retardation. "Fragile X Syndrome" is a genetic mutation affecting approximately one in 3,600 males and one in 4,000 to 6,000 females. It has been linked to several physical abnormalities and to intellectual problems ranging from minor learning...Iron exporter revealed that may explain common human disorder
...o become overloaded with iron. Left untreated, the hereditary disease can lead to organ failure. The new work, led by researchers at the Children's Hospital Boston and Harvard Medical School, finds that the protein ferroportin is the major, if not the only, iron exporter that functions in key sites of iron abso...