Category: <span>Genetics</span>

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Largest-ever study of thyroid cancer genetics finds new mutations, suggests immunotherapy

University of Colorado Cancer Center researchers recently completed the largest-ever study of thyroid cancer genetics, mining the data of 583 patient samples of advanced differentiated thyroid cancer and 196 anaplastic thyroid cancers. In addition to the identification of specific genes that may drive these cancers and thus provide attractive targets for treatment, the researchers found that in several samples...

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Researchers use CRISPR to edit DNA outside of the cell for the first time

Delaware’s Gene Editing Institute discovery could rapidly advance personalized cancer care IMAGE: DIRECTOR OF THE GENE EDITING INSTITUTE AND PRINCIPAL AUTHOR OF THE STUDY Wilmington, DE, April 19, 2018 – Scientists at Christiana Care Health System’s Gene Editing Institute have developed a potentially breakthrough CRISPR gene-editing tool. It could allow researchers to take fragments of DNA extracted from human...

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Enigmatic gene critical for a healthy brain

A cross section of the mouse olfactory bulb. Green is electroporated neuroblasts born in the sub ventricular zone that migrated into the olfactory bulb. Blue is a DAPI nuclear counterstain. Credit: Francis Szele New research has shown how an unusual gene is needed for brain development in young mice. Since the human genome was first sequenced in...

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New mutation behind heart failure identified

An international research team involving Karolinska Institutet has identified a new mutation in South Asians that, in combination with a known mutation in the same gene, increases the risk of cardiomyopathy and heart failure. The finding, published in the scientific journal JAMA Cardiology, can lead to improved treatment options for a large number of patients. Four...

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First seeds of kidney cancer sown in adolescence

Insights from this study present an opportunity to develop approaches for early detection and early intervention in kidney cancer The earliest critical genetic changes that can lead to kidney cancer have been mapped by scientists. The first key genetic change occurs in childhood or adolescence, and the resulting cells follow a consistent path to progress...

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Loss-of-Function KIF5A Mutations Linked to Amyotrophic Lateral Sclerosis

NEW YORK (GenomeWeb) – Researchers have linked loss-of-function mutations in the KIF5A gene to amyotrophic lateral sclerosis. ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects about 14,500 people in the US, according to the Centers for Disease Control and Prevention. An international team of researchers led by John Lander...

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Solution to 50-year-old mystery could lead to gene therapy for common blood disorders

UNSW Sydney scientist Professor Merlin Crossley. Credit: UNSW In a landmark study that could lead to new therapies for sickle cell anaemia and other blood disorders, UNSW Sydney-led researchers have used CRISPR gene editing to introduce beneficial natural mutations into blood cells to boost their production of foetal haemoglobin.  The research solves a 50-year-old mystery...

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CRISPR enhances gene therapy to fight inherited diseases

Shown is a transmission electron microscope image of adenovirus particles. A new study, in mice, combined molecular tools — adenovirus and CRISPR — to improve gene therapy. Credit: CDC/G. William Gary Jr Gene therapy has shown promise in treating inherited genetic diseases, but a major issue that has frustrated scientists remains: Replacing a “bad” gene...

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Complete genome sequence can be ID’d from amniotic fluid

(HealthDay)—The complete genome sequence of fetuses can be elucidated from amniotic fluid, according to a study published online March 15 in Clinical Chemistry. Qing Mao, from Complete Genomics Inc., in San Jose, Calif., and colleagues isolated cellular DNA and cell-free DNA (cfDNA) from the cell pellet of 31 amniocenteses and conducted sequencing to approximately 50× genome...

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Genome therapy could lead to new treatment for life-threatening blood disorders

Genome therapy with beneficial natural mutation could lead to new treatment for life-threatening blood disorders By introducing a beneficial natural mutation into blood cells using the gene-editing technique CRISPR, a UNSW Sydney-led team of scientists has been able to switch on production of foetal haemoglobin – an advance that could eventually lead to a cure for sickle...