Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

RNA silencing technique developed by spinoff from UM-Madison effective in battling hepatitis B

A method for "silencing" RNA that emerged from a University of Wisconsin-Madison spinoff company is in clinical trials in Europe, Asia and the United States against hepatitis B, an infection that can destroy the liver.

11 Aug 2016

Geneticists identify enzyme that regulates chromosome segregation during meiosis

GENETICISTS have identified an enzyme which regulates the production of sperm and egg cells in human reproduction.

10 Aug 2016

Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

Pulmonology and genetics experts from two Utah healthcare organizations have collaboratively developed a new diagnostic genomic testing method for a rare form of pulmonary hypertension caused by a genetic mutation they discovered three years ago.

9 Aug 2016

New Sequins technology could help improve quality of genomic analysis

Australian genomics researchers have announced the development of Sequins -- synthetic 'mirror' DNA sequences that reflect the human genome.

9 Aug 2016

New drug treatment could reduce body weight in obese patients with rare genetic disorder

As part of a phase II study at Charité - Universitätsmedizin Berlin and the Berlin Institute of Health, two obese patients with a rare genetic disorder were given a drug treatment to stimulate the satiety center in the brain.

3 Aug 2016

Researchers identify crucial innate immunity role for gene linked to ARC syndrome in children

UT Southwestern Medical Center researchers have found an important innate immunity role for a gene linked to a rare, fatal syndrome in children. Their study has implications for a much more common disease: tuberculosis.

2 Aug 2016

Overcoming gene silencing barriers to target neurological conditions: an interview with Dr Errol de Souza

Many gene mutations that cause neurological disorders have been identified. For example, in a rare neurological disorder such as Huntington’s disease, an autosomal dominant mutation through expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for the Huntingtin protein results in abnormal protein production.

1 Aug 2016

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

From Natera 30 Jul 2016

Scientists identify mutation responsible for new, rare genetic disorder

An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays.

28 Jul 2016

Yale researchers develop new system to simultaneously edit multiple genes

A Yale research team has designed a system to modify, or edit, multiple genes in the genome simultaneously, while also minimizing unintended effects.

26 Jul 2016

Male hormones can reverse biological drivers of aging, study shows

Telomerase, an enzyme naturally found in the human organism, is the closest of all known substances to a "cellular elixir of youth." In a recent study, Brazilian and US researchers show that sex hormones can stimulate production of this enzyme.

26 Jul 2016

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

A study by researchers at Children's Hospital Los Angeles, Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life.

26 Jul 2016

Key gene controls ability of adult stem cells to regenerate muscle after injury, study finds

A key gene enables the repair of injured muscle throughout life. This is the finding of a study in mice led by researchers at NYU Langone Medical Center and the University of Colorado at Boulder, and published online July 21 in Cell Reports.

21 Jul 2016

Study finds new data about dMMR's hereditary basis in rectal cancer

Up to 15 percent of colorectal cancers show a genetic mutation known as DNA mismatch repair deficiency, or dMMR.

19 Jul 2016

Researchers develop new detection systems for genotyping DNA and RNA with naked eye

DNA polymerases are the “Xerox machines” that replicate our DNA. They must work with great precision to keep errors from creeping into our genes.

14 Jul 2016

Five-year NIH grant awarded to four NYC medical centers for PMI Cohort Program

Columbia University Medical Center and Weill Cornell Medicine, in collaboration with NewYork-Presbyterian and NYC Health + Hospitals/Harlem, have been awarded a grant from the NIH for approximately $4 million in fiscal year 2016 to enroll participants in the Cohort Program of President Barack Obama's Precision Medicine Initiative (PMI)—a large-scale research effort to improve our ability to prevent and treat disease based on individual differences in lifestyle, environment and genetics.

11 Jul 2016

Genetic Disorder News and Research

Further Reading

RNA silencing technique developed by spinoff from UM-Madison effective in battling hepatitis B

Geneticists identify enzyme that regulates chromosome segregation during meiosis

Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

New Sequins technology could help improve quality of genomic analysis

New drug treatment could reduce body weight in obese patients with rare genetic disorder

Researchers identify crucial innate immunity role for gene linked to ARC syndrome in children

Overcoming gene silencing barriers to target neurological conditions: an interview with Dr Errol de Souza

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Scientists identify mutation responsible for new, rare genetic disorder

Yale researchers develop new system to simultaneously edit multiple genes

Male hormones can reverse biological drivers of aging, study shows

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

Key gene controls ability of adult stem cells to regenerate muscle after injury, study finds

Study finds new data about dMMR's hereditary basis in rectal cancer

Researchers develop new detection systems for genotyping DNA and RNA with naked eye

Five-year NIH grant awarded to four NYC medical centers for PMI Cohort Program

Study identifies genetic mutations responsible for development of cardiac hypertrophy in adults

New genetic test provides rapid diagnosis of mitochondrial disease

Minoryx Therapeutics initiates phase 1 clinical trial of MIN-102

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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