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Genetic Disease Current Events, Genetic Disease News Articles.
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Study sheds light on rarity of disease-causing IGF mutations
Peter Rotwein, M.D., was recently spotlighted by the American Society for Biochemistry and Molecular Biology (ASBMB) for a study he conducted on insulin-like growth factors (IGFs), a family of proteins that are crucial in early human growth and development. IGF mutations have been tied to dire health problems, like growth failure, intellectual deficiencies, and other developmental abnormalities. (2017-12-18)

Genetic differences between yeasts greater than those between humans and chimpanzees
There may be greater genetic variation between different yeasts of the same species than between humans and chimpanzees. This is one of the findings of a study from the University of Gothenburg that is being published in the scientific journal Nature. This study heralds a new era in evolutionary genetics research -- the mapping of an individual's DNA. (2009-02-13)

Genetic counselors turn to unconventional counseling to meet demand for genetic testing
Imagine receiving genetic test results for a disease you could develop later in life without having anyone with whom to discuss your options for managing the risk. That's becoming a common occurrence as people turn to the Internet and other outlets for genetic testing without genetic counseling. In an effort to broaden accessibility to genetic counseling, researchers are exploring nonconventional counseling methods that challenge traditional approaches. (2008-03-17)

How the cellular 'garbage disposal' grinds to a halt to cause Batten disease
Scientists have discovered just how a genetic defect disrupts the cellular (2004-01-28)

New assay screens human brain organoids, doubles known candidate genes for microcephaly
A new tissue screening assay for human cerebral organoids identified 25 additional candidate genes for microcephaly, nearly doubling the number of currently known genes linked to the rare neurological condition. (2020-10-29)

Canadians' preferences for receiving incidental findings from genetic testing
Although many people value receiving information about incidental findings identified from genomic sequencing, not everyone wants to know about genetic conditions regardless of potential health implications, found a study of Canadian preferences in Canadian Medical Association Journal. (2015-03-09)

Scientists identify susceptibility factor for bipolar disorder
A new study provides fascinating insight into the genetic basis of bipolar disorder, a highly heritable mood disorder characterized by recurrent episodes of mania and depression. The research, published by Cell Press online Feb. 24 in the American Journal of Human Genetics, identifies a previously unrecognized susceptibility factor for bipolar disorder (2011-03-03)

Sick and tired -- not just a figure of speech
Already feeling drained so early in the year? Genes might contribute in a small but significant way to whether people report being tired and low in energy. This is according to UK researchers led by Vincent Deary of Northumbria University, Newcastle, and Saskia Hagenaars of the University of Edinburgh, in a paper in Springer Nature's journal Molecular Psychiatry. (2017-02-14)

First new multiple sclerosis gene found in 30 years
A newly identified gene may hold the promise of guiding future research into therapies for multiple sclerosis in what its discoverers say is the first major genetic advance in 30 years for understanding this nervous system disease. (2007-07-29)

Researchers uncover genetic basis for kin recognition in mice
Researchers from the University of Liverpool have identified the genetic basis of how mice can recognize close relatives, even if they have never encountered them before. (2015-09-24)

Unprecedented study identifies 44 genetic risk factors for major depression
A global research project has mapped out the genetic basis of major depression, identifying 44 genetic variants which are risk factors for depression, 30 of which are newly discovered. The study, by the Psychiatric Genomics Consortium and co-led in the UK by King's College London, is the largest study to-date of genetic risk factors for major depression. (2018-04-26)

New metabolomic screening method detects multiple inborn errors of metabolism in urine
Analysis of a single urine sample using a metabolomics-based screening approach can identify multiple different inborn errors of metabolism (IEMs), facilitating early disease detection and rapid initiation of treatment, as described in an article published in Genetic Testing and Molecular Biomarkers. (2016-11-03)

Genetic modification and genome editing rely on active roles for researchers and industry
In a review published in the Journal of Dairy ScienceĀ® authors from the Swedish University of Agricultural Sciences discuss potential applications of genetic modification and genome editing of cattle for food production, considering both the breeding program and its ethical aspects. The authors concluded that an active role by all those involved is necessary to support scientific developments. (2017-12-20)

Unveiling the bottlenecks to discovering the root causes of rare genetic diseases
A commentary paper including feedback from 40 scientists, says international cooperation is needed now more than ever; despite advances in technology and decades of research, the genetic mutations behind half of the 7,000 known rare genetic diseases in the world remain a mystery. There is international support for IRDiRC-recognized platforms, tools, standards and guidelines to streamline resources and accelerate progress for rare disease research. (2017-05-04)

Gene linked with childhood asthma is identified, giving hope for new therapies
A gene that is strongly associated with a risk of developing childhood onset asthma is identified in new research published online today in Nature. (2007-07-04)

Pre-test genetic counseling increases cancer knowledge for BRCA patients
Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited decreases in distress. Those offered pre-test genetic counseling after surgery improved their informed decision-making. Patients in both groups showed increases in their cancer knowledge with pre-test genetic counseling. (2012-08-15)

Finding of genetic region controlling cardiovascular sensitivity to anesthetic propofol
Researchers at the Medical College of Wisconsin in Milwaukee have identified the genetic region in rats responsible for cardiovascular collapse during anesthesia. While it is well known that people have different cardiovascular sensitivity to anesthesia causing some to collapse even when low doses are administered, the mechanism responsible for this susceptibility is not clear. (2009-09-10)

Modern Melanesians have retained Denisovan DNA
Modern Melanesians harbor genetic components passed on from Denisovans, a new study suggests. In the past, ancestors of many modern human populations interbred with other hominin species that have since become extinct, such as the Neandertals and Denisovans. (2016-03-17)

Genetics for personalized coronary heart disease treatment
Identifying a single, common variation in a person's genetic information improves prediction of his or her risk of a heart attack or other heart disease events and thus, choice of the best treatment accordingly, said researchers at Baylor College of Medicine in Houston. (2008-11-11)

Study finds association between male birth defect and certain genetic mutations
A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the Nov. 19 issue of JAMA. (2008-11-18)

Life in Antarctica's ice mirrors human disease
Mapping tens of thousands of genes from a group of Antarctic fishes called notothenioids, a team of researchers has discovered that the massive amount of genetic change required for life in the Antarctic occurred long before the Antarctic cooled. These genetic changes not only have major implications for understanding the evolution of Antarctica's unusual animals, but also highlight that some key adaptations used by fishes mirror the genetics of human bone diseases such as osteoporosis. (2019-06-10)

Modern Melanesians harbor beneficial DNA from archaic hominins
Modern Melanesians harbor beneficial genetic variants that they inherited from archaic Neanderthal and Denisovan hominins, according to a new study. (2019-10-17)

3 new genetic links to colorectal cancer
Vanderbilt-Ingram Cancer Center investigators have identified three new genetic (2012-12-23)

New study highlights links between inflammation and Parkinson's disease
An international collaboration involving researchers from the Luxembourg Centre for Systems Biology (LCSB) at the University of Luxembourg established an association between inflammation and specific genetic mutations in Parkinson's patients. The study, recently published in the scientific journal Brain, highlights two biomarkers that could be used to assess Parkinson's disease state and progression. The results also suggest that targeting the immune system with anti-inflammatory medication holds the potential to influence the disease course, at least in a subset of patients. (2020-10-14)

Scientists ID genes associated with educational attainment
A USC co-author of the study says the genes that are correlated with educational attainment are expressed in the brain during prenatal development. (2016-05-11)

At-Risk Women Want Breast Cancer Gene Test--If 'Pros' Outweigh 'Cons'
Despite public fears that insurers and employers might use genetic testing results to discriminate against persons who have genes associated with diseases, women with a family history of breast cancer reported that they want to be tested to learn if they inherited a susceptibility to the disease, once they can weigh the pros and cons. (1997-09-23)

Identification of genetic variants affecting age at menopause could help improve fertility treatment
For the first time, scientists have been able to identify genetic factors that influence the age at which natural menopause occurs in women. Ms. Lisette Stolk, a researcher from Erasmus MC, Rotterdam, the Netherlands, told the annual conference of the European Society of Human Genetics today that a greater understanding of the factors influencing age at menopause might eventually help to improve the clinical treatment of infertile women. (2009-05-25)

Wild African buffalo provide key insights into the genetics of TB resistance
Morris Animal Foundation-funded researchers at Oregon State University discovered areas in the African buffalo genome linked to risk for TB infection. Their finding also demonstrates the complex interplay between host immune responses and spread of infectious disease. (2019-09-19)

Lifestyle choices condition colon and rectal cancer risk more than genetics
Researchers from IDIBELL have issued the first predictive risk model of colon and rectal cancer based on Spanish data that combines genetic and lifestyle information. Their work highlights the importance of improving lifestyle to reduce the risk of colon cancer and suggests to fine tune the current screening method by combining lifestyle and genetic information. (2017-03-07)

River valleys helped shape current genetic landscape of Han Chinese
The Han Chinese are the world's largest ethnic group, making up 91.6% of modern-day China. Now, in a new study drawing from the largest study to date of three generations of 21,668, unrelated Han Chinese DNA samples, spread out over all provinces, lead author Qing-Peng Kong and his team, of the Kunming Institute of Zoology have shown the importance of how the three main river valleys in China contributed to Han genetic diversity. (2019-05-21)

Hutchinson Center researcher secures $7.9 million NCI grant for esophageal cancer research
Thomas Vaughan, M.D., head of the Epidemiology Program in the Public Health Sciences Division of Fred Hutchinson Cancer Research Center, has received a three-year, $7.9 million grant from the National Cancer Institute to study genetic susceptibility for Barrett's esophagus and esophageal adenocarcinoma, a rapidly fatal cancer whose incidence has increased more than 500 percent in the past 30 years, faster than any other cancer in the United States. (2009-10-30)

Genetics center to launch new genetic-testing initiative
The Pew Charitable Trusts announced today that it is making a $3 million investment in the Genetics and Public Policy Center at Johns hopkins University to improve the overall effectiveness, safety, and reliability of genetic testing, and to develop and promote recommendations where appropriate. (2005-07-05)

Information on tree genetic resources vital for conservation and sustainable management of forests
Urgent action is needed by countries to better manage forest genetic resources, to ensure that people can continue to rely on these resources for their nutrition, livelihoods and resilience over the long term (2014-06-16)

Case Western Reserve School of Nursing scientist to lead new cystic fibrosis research
A scientist at Case Western Reserve University Frances Payne Bolton School of Nursing will lead a pair of studies to develop more effective treatment for symptoms of cystic fibrosis (CF), a life-threatening genetic disease that causes persistent lung infections and progressively limits the ability to breathe. (2015-12-17)

When disease discriminates: Women and COPD
Women have made a good deal of welcome progress in the last several decades, but at least one advance is unwanted: chronic obstructive pulmonary disease is on the rise in women in prevalence, morbidity and mortality. By 2000, the number of women dying from COPD surpassed the number of men. But the rising number of cases in women has not been matched by medical understanding of the disease's apparent gender bias. (2007-12-14)

UCSF Researchers Identify Mutations In Gene Causing Hereditary Form Of Childhood Rickets
Last fall, researchers at UC San Francisco announced that they had identified an elusive gene critical for vitamin D metabolism. Now they have identified mutations in that gene, paving the way for genetic diagnosis of a hereditary form of childhood rickets. (1998-04-28)

Study highlights need to increase diversity within genetic data sets
Polygenic scores developed by studying Europeans do a better job at predicting disease risk for people of European ancestry than for those of other ancestries. (2019-03-29)

From alpaca to zebra finch -- a decade of cataloguing life's diversity
Today's publication in Nature of the genetic blueprint for the zebra finch marks 10 years of success for the Ensembl project in helping researchers to navigate the genomes of a Noah's Ark of species. Ensembl, a genome annotation system co-developed and jointly run by EMBL-EBI and the Wellcome Trust Sanger Institute, played a major part in finding the genes and other functionally important features in the zebra finch genome. (2010-03-31)

Wildly stronger sunflowers
Annually, diseases, weeds, and insects are estimated to cause more than $1.3 billion in losses for sunflower growers. To combat this, researchers are preserving the genetic diversity of wild sunflowers. Wild plants retain the genes needed to resist pests and survive in different environments. (2017-03-15)

Nature Genetics and the International Society of Nephrology come to Danvers on World Kidney Day
Nature Genetics and the International Society of Nephrology will this week be hosting a jointly organized ISN Forefronts meeting: Nephrogenetics: from development to physiology, March 8-11, 2007, Sheraton Ferncroft Resorts, Danvers, Mass. This timely meeting will be inaugurated on World Kidney Day and has attracted senior editors from publications such as the New England Journal of Medicine and Bio-IT World. (2007-03-05)

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