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Latest Medical genetics Stories

Fetal Genome Mapped Through Maternal-Paternal DNA
2012-06-07 10:34:23

Scientists have successfully sequenced the genome of a fetus after taking a blood sample from a woman who was 18 weeks pregnant, and a swab of saliva from the father -- a move that could play a significant role in the screening of rare disorders before the child is even born. The research, published in the journal Science Translational Medicine, is not the first study to have shown a fetal genome can be glimpsed with a sample of the mother´s blood, but does offer a more accurate...

2012-06-01 23:03:46

World-renowned Professionals Connect with Families July 6 — 10th in Orlando to Discuss Cutting-edge Trends & Treatments Matawan, NJ (PRWEB) June 01, 2012 The International 22q11.2 Foundation Inc., an organization dedicated to improving the quality of life for people affected by chromosome 22q11.2 abnormalities through family and professional partnerships, is acting as the lead sponsor for The 8th Biennial International 22q11.2DS Conference in Orlando, FL,USA from July 6 -10th....

2012-05-29 12:37:29

Children's Hospital of Philadelphia researchers shed light on genetic disorders tied to cohesin protein malfunction Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called...

2012-05-14 08:20:01

Singapore, May 14, 2012 - (ACN Newswire) - Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome[1]. Their groundbreaking findings were published on May 13th in the prestigious journal Nature Genetics. The work lends new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly...

2012-05-08 09:50:39

Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons. "I thought if we could obtain even a couple of relatively secure diagnoses out of the 12 patients, that would prove the value of deploying sequencing approaches systematically in patients with unknown but apparently genetic conditions," said David Goldstein, Ph.D.,...


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bibliopole
  • A bookseller; now, especially, a dealer in rare and curious books.
This word comes from a Greek phrase meaning 'book seller.'
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