Genetic Disorder News and Research

RSS

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

First Edition: July 12, 2013

Today's early morning highlights from the major news organizations, including articles on data tracking of doctors and comparing the rollout of the Medicare Part D drug plans to implementation of the federal health law.

12 Jul 2013

Children with SPD have quantifiable differences in brain structure, reveals study

In a groundbreaking new study from UC San Francisco, researchers have found that children affected with sensory processing disorders (SPD) have quantifiable differences in brain structure, showing a biological basis for the disease that sets it apart from other neurodevelopmental disorders.

10 Jul 2013

TGA of Australia approves Vertex Pharmaceuticals' KALYDECO for cystic fibrosis

Vertex Pharmaceuticals Incorporated today announced that the Therapeutic Goods Administration of Australia has approved KALYDECO (ivacaftor) for people with cystic fibrosis ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator gene.

10 Jul 2013

Researchers fabricate nanotweezers that could be used to control and regulate enzymes

In new research, Hao Yan and his colleagues at Arizona State University's Biodesign Institute describe a pair of tweezers shrunk down to an astonishingly tiny scale. When the jaws of these tools are in the open position, the distance between the two arms is about 16 nanometers-over 30,000 times smaller than a single grain of sand.

5 Jul 2013

Saltwater-treatment for cystic fibrosis: an interview with Matthew Allen, Program Director at Cambridge Consultants

A group of Australian researchers, back in 2006, noted that there was a link between the severity of cystic fibrosis between sufferers who surfed, and sufferers who did not surf – and obviously Australia is a good place to spot that.

4 Jul 2013

New study finds inherited genetic contribution in autism with intellectual disability

Researchers are striving to understand the different genetic structures that underlie at least a subset of autism spectrum disorders. In cases where the genetic code is in error, did that happen anew in the patient, perhaps through mutation or copying error, or was it inherited? A new study in the American Journal of Human Genetics finds evidence that there may often be a recessive, inherited genetic contribution in autism with significant intellectual disability.

4 Jul 2013

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome - a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity - is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep.

26 Jun 2013

Santarus, Pharming Group announce FDA acceptance of RUCONEST BLA

Santarus, Inc. and Pharming Group NV today announced that the U.S. Food and Drug Administration has accepted for filing the Biologics License Application for the investigational drug RUCONEST (recombinant human C1 esterase inhibitor) 50 IU/kg.

18 Jun 2013

Researchers use patient-specific stem cells to correct deficient insulin-producing cells

A team from the New York Stem Cell Foundation Research Institute and the Naomi Berrie Diabetes Center of Columbia University has generated patient-specific beta cells, or insulin-producing cells, that accurately reflect the features of maturity-onset diabetes of the young.

18 Jun 2013

New study identifies possible treatment to block deposition of calcium in arterial wall

HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important for the integrity and function of the envelope surrounding the cell nucleus. The mutation causes incorrect processing of the messenger RNA for lamin proteins, resulting in the synthesis of an anomalous protein, called progerin.

18 Jun 2013

Researchers identify genetic mutation responsible for MDP Syndrome

National Paracycling Champion Tom Staniford has an extremely rare condition which, until now, has puzzled his doctors. He is unable to store fat under his skin - yet has type 2 diabetes - and suffered hearing loss as a child. Now, thanks to advances in genome sequencing, an international research team led by the University of Exeter Medical School has identified Tom's condition and pinpointed the single genetic mutation that causes it.

17 Jun 2013

Non-invasive odor analysis: A valuable technique for early diagnosis of melanoma

According to new research from the Monell Center and collaborating institutions, odors from human skin cells can be used to identify melanoma, the deadliest form of skin cancer. In addition to detecting a unique odor signature associated with melanoma cells, the researchers also demonstrated that a nanotechnology-based sensor could reliably differentiate melanoma cells from normal skin cells.

14 Jun 2013

Researchers discover TTC7A gene that causes multiple intestinal atresia in newborns

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns.

12 Jun 2013

Researchers to launch Phase II clinical trial to investigate potential new therapy for sickle cell anemia

Seeking to improve the lives of sickle cell anemia sufferers around the world, researchers from the La Jolla Institute for Allergy and Immunology, the Dana-Farber/Children's Hospital Cancer Center in Boston and the BloodCenter of Wisconsin in Milwaukee and others are preparing to launch Phase II of a clinical trial to investigate a potential new therapy for reducing the disorder's severest symptoms.

12 Jun 2013

Research discovery could shed light on unsolved cases of arrhythmia

The heart's regular rhythm is crucial to the delivery of oxygenated blood and nutrients to all the organs of the body. It is regulated by a bundle of cells called "the pacemaker," which use electrical signals to set the pace of the heart. Dysfunction in this mechanism can lead to an irregular heartbeat, known as arrhythmia, and often necessitates the implantation of an artificial pacemaker.

12 Jun 2013

Education about malignant hyperthermia is important to medical professionals and community

Orlando Health, the Florida Society of PeriAnesthesia Nurses, and the Florida Society of Anesthesiologists took a moment to comment on a conference they are co-sponsoring with the Malignant Hyperthermia Association of the United States in Orlando on June 29.

11 Jun 2013

Viewpoints: Selling Obamacare in Arizona; 'Hassle-free' marketplace; Seeking the 'grand bargain'

You may not admit it, but you are a fan of Obamacare and Gov. Jan Brewer knows it. The Republicans who run the Arizona legislature don't like Obamacare. And the Republicans who control the U.S. House of Representatives don't like it. But you do. You may deny it. You may not even know it. But you do. And that will help the governor get her Medicaid expansion plan through the legislature (EJ Montini, 6/6).

11 Jun 2013

Scientists discover how Arc protein helps translate learning into memory

Scientists at the Gladstone Institutes have deciphered how a protein called Arc regulates the activity of neurons-providing much-needed clues into the brain's ability to form long-lasting memories. These findings, reported today in Nature Neuroscience, also offer newfound understanding as to what goes on at the molecular level when this process becomes disrupted.

10 Jun 2013

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

10 Jun 2013

Researchers find new way to repair genetic defects in the skin cells of epidermolysis bullosa patients

A research team led by pediatric blood and marrow transplantation experts Mark Osborn, Ph.D. and Jakub Tolar, M.D., Ph.D. from the Masonic Cancer Center, University of Minnesota, have discovered a remarkable new way to repair genetic defects in the skin cells of patients with the skin disease epidermolysis bullosa.

10 Jun 2013

Genetic Disorder News and Research

Further Reading

First Edition: July 12, 2013

Children with SPD have quantifiable differences in brain structure, reveals study

TGA of Australia approves Vertex Pharmaceuticals' KALYDECO for cystic fibrosis

Researchers fabricate nanotweezers that could be used to control and regulate enzymes

Saltwater-treatment for cystic fibrosis: an interview with Matthew Allen, Program Director at Cambridge Consultants

New study finds inherited genetic contribution in autism with intellectual disability

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Santarus, Pharming Group announce FDA acceptance of RUCONEST BLA

Researchers use patient-specific stem cells to correct deficient insulin-producing cells

New study identifies possible treatment to block deposition of calcium in arterial wall

Researchers identify genetic mutation responsible for MDP Syndrome

Non-invasive odor analysis: A valuable technique for early diagnosis of melanoma

Researchers discover TTC7A gene that causes multiple intestinal atresia in newborns

Researchers to launch Phase II clinical trial to investigate potential new therapy for sickle cell anemia

Research discovery could shed light on unsolved cases of arrhythmia

Education about malignant hyperthermia is important to medical professionals and community

Viewpoints: Selling Obamacare in Arizona; 'Hassle-free' marketplace; Seeking the 'grand bargain'

Scientists discover how Arc protein helps translate learning into memory

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Researchers find new way to repair genetic defects in the skin cells of epidermolysis bullosa patients

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

Latest News