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A genealogical DNA test is a DNA-based test which looks at specific locations of a person's genome in order to determine ancestral ethnicity and genealogical relationships. Results give information about ethnic groups the test subject may be descended from and about other individuals that they may be related to. Three principal types of genealogical DNA tests are available, with each looking at a different part of the genome and useful for different types of genealogical research: Autosomal, Mitochondrial, and Y

A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. Theyre relieved to find out that cystic fibrosis (CF) isnt something they need worry about passing to their children neither has any of the few dozen mutations the test panel includes. The couple do not carry the most common 32,106, or even 139disease-causing mutations in the CFTR gene, the number depending upon the testing lab

Off Target Effects But almost as soon as the technology was introduced, scientists raised concerns about off target effects. Said Xiao-Hui Zhanget al.of the College of Veterinary Medicine, South China Agricultural University and coauthors at MIT in a 2015Molecular TherapyNucleic Acidsarticle, The high frequency of off-target activity (50%)RGEN (RNA-guided endonuclease)-induced mutations at sites other than the intended on-target site is one major concern, especially for CRISPR technology therapeutic and clinical applications

Jennifer Doudna was sitting in her UC Berkeley office when she got the first call from a reporter asking what she thought about scientists using Crispr to modify embryos. At the time, the embryos in question were monkeys. It was late 2014, and Doudna was just beginning to become the face of Crispr/Cas9the bacterial enzyme behind todays gene editing revolution

It's been hailed as one of the most potentially transformative inventions in modern medicine, bringing the prospect of designer babies closer than any other technology to date, but CRISPR-Cas9 could be riskier than we thought. The technology that could spark a gene-editing revolution has been caught introducing hundreds of unintended mutations into the genome, and with scientistsalready testing it in humans, it's set off some serious alarm bells

Thuy Truong thought her aching back was just a pulled muscle from working out. But then came a high fever that wouldn't go away during a visit to Vietnam. When a friend insisted Truong, 30, go to an emergency room, doctors told her the last thing she expected to hear: She had lung cancer

Although common, male baldness can have negative psychological effects and some studies have even linked it to a handful of serious illnesses.

Agnethe Berglund,1 Morten Olsen,2 Marianne Andersen,3 Eigil Husted Nielsen,4 Ulla Feldt-Rasmussen,5 Caroline Kistorp,6 Claus Hjbjerg Gravholt,1,7 Kirstine Stochhholm1,8 1Department of Endocrinology and Internal Medicine, 2Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 3Department of Endocrinology, Odense University Hospital, Odense, 4Department of Endocrinology, Aalborg University Hospital, Aalborg, 5Department of Endocrinology, Rigshospitalet, Copenhagen University,Copenhagen, 6Department of Endocrinology, Herlev Hospital, Herlev, 7Department of Molecular Medicine, 8Department of Pediatrics, Center of Rare Diseases, Aarhus University Hospital, Aarhus, Denmark Objective: Routinely collected health data may be valuable sources for conducting research. This study aimed to evaluate the validity of algorithms detecting hypopituitary patients in the Danish National Patient Registry (DNPR) using medical records as reference standard. Study design and setting: Patients with International Classification of Diseases (10th edition [ICD-10]) diagnoses of hypopituitarism, or other diagnoses of pituitary disorders assumed to be associated with an increased risk of hypopituitarism, recorded in the DNPR during 20002012 were identified.

Executive Summary This executive summary provides an overview of the genetics of breast and gynecologic cancer topics covered in this PDQ summary. Click on the hyperlinks within the executive summary to go to the section of the summary where the evidence surrounding each of these topics is covered in detail. Breast and ovarian cancer are present in several autosomal dominant cancer syndromes, although they are most strongly associated with highly penetrant germline mutations in BRCA1 and BRCA2.

In recent months, several national initiatives for personalized medicine have been announced, including the recently launched precision medicine initiative in the US, driven by rapid advances in genomic technologies and with the promise of cheaper and better healthcare. Significant challenges remain, however, in the management and analysis of genetic information and their integration with patient data. The sheer scale and complexity of this data, generated using cutting-edge technologies such as next generation DNA sequencing, requires the development of new computer algorithms and systems that can mine this data to get actionable knowledge.

Scientists at Cold Spring Harbor Laboratory (CSHL) have devised a powerful algorithm that improves the effectiveness of an important research technology harnessing RNA interference, or RNAi. Discovered in the late 1990s, RNAi is a naturally occurring biological mechanism in which short RNA molecules bind to and "interfere" with messages sent by genes that contain instructions for protein production. Such interference can prevent a gene from being expressed.

PUBLIC RELEASE DATE: 5-Dec-2014 Contact: Peter Tarr tarr@cshl.edu 516-367-8455 Cold Spring Harbor Laboratory @CSHLnews Cold Spring Harbor, NY - Scientists at Cold Spring Harbor Laboratory (CSHL) have devised a powerful algorithm that improves the effectiveness of an important research technology harnessing RNA interference, or RNAi.

Contact Information Available for logged-in reporters only Newswise NEW YORK, NY (October 9, 2014)Using an innovative algorithm that analyzes gene regulatory and signaling networks, Columbia University Medical Center (CUMC) researchers have found that loss of a gene called KLHL9 is the driving force behind the most aggressive form of glioblastoma, the most common form of brain cancer. The CUMC team demonstrated in mice transplants that these tumors can be suppressed by reintroducing KLHL9 protein, offering a possible strategy for treating this lethal disease. The study was published today in the online issue of Cell.

PUBLIC RELEASE DATE: 15-Jul-2014 Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News New Rochelle, NY, July 15, 2014A new, validated software-based method for identifying patients with newly diagnosed HIV using electronic medical records (EMRs) is described in AIDS Research and Human Retroviruses, a peer-reviewed journal published by Mary Ann Liebert, Inc., publishers. The article is available free on the AIDS Research and Human Retroviruses website at http://online.liebertpub.com/doi/full/10.1089/aid.2013.0287 until August 15, 2014

Researchers at Oxford hope that the new face-recognition software could similarly diagnose rare genetic conditions in children from family photographs. Just as it did with Lincoln, the programme allows a computer to scour family snaps for facial features characteristics of conditions such as Downs syndrome, Angelman syndrome, or Progeria.

Whitehead Institute scientists have identified a genetic cause of a facial disorder known as hemifacial microsomia (HFM). The researchers find that duplication of the gene OTX2 induces HFM, the second-most common facial anomaly after cleft lip and palate. HFM affects approximately one in 3,500 births.

Contact Information Available for logged-in reporters only Newswise (SALT LAKE CITY)A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics.

Microarray analysis -- a complex technology commonly used in many applications such as discovering genes, disease diagnosis, drug development and toxicological research -- has just become easier and more user-friendly.

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Newswise Although heavily studied, the specific genetic causes of complex diseases, a category of disorders which includes autism, diabetes and heart disease, are largely unknown due to byzantine genetic and environmental interactions. Now, scientists from the University of Chicago have created one of the most expansive analyses to date of the genetic factors at play in complex diseasesby using diseases with known genetic causes to guide them

Public release date: 15-Jul-2013 [ | E-mail | Share ] Contact: Jeremy Moore jeremy.moore@aacr.org 215-446-7109 American Association for Cancer Research PHILADELPHIA Scientists at the National Cancer Institute (NCI) have generated a data set of cancer-specific genetic variations and are making these data available to the research community, according to a study published in Cancer Research, a journal of the American Association for Cancer Research. This will help cancer researchers better understand drug response and resistance to cancer treatments. "To date, this is the largest database worldwide, containing 6 billion data points that connect drugs with genomic variants for the whole human genome across cell lines from nine tissues of origin, including breast, ovary, prostate, colon, lung, kidney, brain, blood and skin," said Yves Pommier, M.D., Ph.D., chief of the Laboratory of Molecular Pharmacology at the NCI in Bethesda, Md., in an interview

Newswise BIRMINGHAM, Ala. A newfound genetic marker promises to better predict warfarin dose in African-Americans, according to a study published online today in The Lancet. If confirmed in further studies, the finding may help to avert more of the bleeds and blood clots that come when a patients starting dose misses the drugs narrow safety window.

Public release date: 21-Mar-2013 [ | E-mail | Share ] Contact: Ivanka Moerkerken i.moerkerken@uroweb.org 31-026-389-0680 European Association of Urology "Are there genetic risk factors for PCa? Yes, and BRCA2 and HOXB13 are useful for predicting high-risk disease," said Jack Cuzick (GB) president of the International Society for Cancer Prevention (ISCaP), referring to the two genes implicated in high-risk prostate disease. Cuzick gave a report on the Consensus Statement for Prostate Cancer Prevention at the closing plenary session of the 28 Annual EAU Congress held in Milan, Italy from March 15 to 19.

The market for bioinformatics services and software may soon surpass that for sequencing technologies, such as the one depicted here, in which laser light is used to help sequence DNA in glass slides. David Paul Morris/Bloomberg via Getty Images For Chaim Jalas at the Center for Rare Jewish Genetic Disorders in New York, DNA sequencing is the easy part.

Jan. 17, 2013 Using only a computer, an Internet connection, and publicly accessible online resources, a team of Whitehead Institute researchers has been able to identify nearly 50 individuals who had submitted personal genetic material as participants in genomic studies