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.

First evidence of blood vessel dysfunction found in healthy young people with cystic fibrosis

The first evidence of blood vessel dysfunction has been found in a small cohort of generally healthy young people with cystic fibrosis, researchers report.

26 Nov 2012

Researchers characterize novel lysosomal PQ protein linked to cystinosis

Researchers at the Université Paris Descartes/CNRS and the Université libre de Bruxelles have made a major breakthrough in the study of cystinosis, a genetic disease that can lead to serious disorders, notably fatal kidney failure.

23 Nov 2012

Researchers stream braille patterns directly into a blind patient's retina

For the very first time researchers have streamed braille patterns directly into a blind patient's retina, allowing him to read four-letter words accurately and quickly with an ocular neuroprosthetic device.

22 Nov 2012

Researchers discover new gene for susceptibility to Alzheimer's disease

A large-scale international study involving French researchers from the Inserm-Institut Pasteur Lille-Universit- Lille Nord de France "Public health and molecular epidemiology of ageing-related diseases" joint research unit led by Philippe Amouyel, has just discovered a gene for susceptibility to a rare disease that causes susceptibility to a common one, Alzheimer's disease, providing evidence of the heterogeneous aetiology of Alzheimer's disease.

20 Nov 2012

Boston and Cincinnati Children's Hospital to learn more about how autism develops

A network of five leading medical centers, led by Cincinnati Children's Hospital Medical Center and Boston Children's Hospital, has received a five-year, $12.5 million National Institutes of Health (NIH) grant to learn more about how autism develops.

20 Nov 2012

GigaScience announces publication of whole-genome sequencing and analysis of Wuzhishan Pig

The international open-access journal GigaScience announces the publication of the whole-genome sequencing and analysis of the Wuzhishan Pig, an extensively inbred, miniature pig, which can serve as an excellent model for human medical research.

16 Nov 2012

People with Prader-Willi Syndrome may have impaired autonomic nervous system

An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite experienced by all sufferers, as well as their very high risk of cardiovascular disease.

16 Nov 2012

Myasthenia gravis therapies: an interview with Professor Daniel Drachman

Myasthenia gravis (MG) is an autoimmune disease that produces weakness and fatiguability of muscles. It affects between 1 and 7 people per 10,000, according to the best statistics.

15 Nov 2012

ALN RNAi therapeutic program represents novel approach for treatment of AAT deficiency

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented new pre-clinical data with an RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of liver disease associated with AAT deficiency. These data were presented at the 63rd Annual Meeting of the American Association for the Study of Liver Diseases (AASLD, "The Liver Meeting") held November 9-13, 2012 in Boston.

15 Nov 2012

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

HCT 1026 may help stem debilitating effects of muscular dystrophy

Cedars-Sinai Heart Institute researchers have found that an experimental compound may help stem the debilitating effects of muscular dystrophy by restoring normal blood flow to muscles affected by the genetic disorder.

9 Nov 2012

New understanding of how noise can break critical tip link protein structure in inner ear cells

Researchers have mapped the precise 3-D atomic structure of a thin protein filament critical for cells in the inner ear and calculated the force necessary to pull it apart.

8 Nov 2012

University of Tübingen heads Neuromics consortium

Work has begun on Neuromics, a major project headed by Tübingen's Professor Olaf Riess; the project beat out ten other first-class applications to attain €12m euros in EU funding over five years.

8 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Researchers discover cellular pathway that causes lung-damaging inflammation in CF

Vancouver researchers have discovered the cellular pathway that causes lung-damaging inflammation in cystic fibrosis (CF), and that reducing the pathway's activity also decreases inflammation.

8 Nov 2012

Positive results from Santarus and Pharming’s RUCONEST Phase III trial on HAE

Santarus, Inc. and Pharming Group NV today announced that their pivotal Phase III clinical study to evaluate the safety and efficacy of the investigational drug RUCONEST (recombinant human C1 esterase inhibitor) 50 U/kg for the treatment of acute attacks of angioedema in patients with Hereditary Angioedema (HAE) met the primary endpoint of time to beginning of symptom relief.

7 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

Study highlights potential treatment that reduces kidney growth

Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders, affecting one in every 1,000 people and responsible for up to ten percent of patients on dialysis worldwide. The disease is characterized by the development of cysts that lead to progressive kidney failure and necessitate dialysis or a kidney transplant in most patients aged around fifty. Moreover, the persistent cyst growth causes high blood pressure and painful complications.

5 Nov 2012

Imatinib mesylate effectively treats children with neurofibromatosis type 1 tumors

Physician-researchers at Indiana University School of Medicine have reported the first effective therapy for a class of previously untreatable and potentially life-threatening tumors often found in children.

2 Nov 2012

New video-protocol details steps to generate human iPSCs from peripheral blood cells

Stem cells are a valuable resource for medical and biological research, but are difficult to study due to ethical and societal barriers. However, genetically manipulated cells from adults may provide a path to study stem cells that avoid any ethical concerns. A new video-protocol in JoVE (Journal of Visualized Experiments), details steps to generate human induced pluripotent stem cells (iPSC) from cells in the peripheral blood.

2 Nov 2012

Genetic Disorder News and Research

Further Reading

First evidence of blood vessel dysfunction found in healthy young people with cystic fibrosis

Researchers characterize novel lysosomal PQ protein linked to cystinosis

Researchers stream braille patterns directly into a blind patient's retina

Researchers discover new gene for susceptibility to Alzheimer's disease

Boston and Cincinnati Children's Hospital to learn more about how autism develops

GigaScience announces publication of whole-genome sequencing and analysis of Wuzhishan Pig

People with Prader-Willi Syndrome may have impaired autonomic nervous system

Myasthenia gravis therapies: an interview with Professor Daniel Drachman

ALN RNAi therapeutic program represents novel approach for treatment of AAT deficiency

Whole genome sequencing could become prenatal standard of care

HCT 1026 may help stem debilitating effects of muscular dystrophy

New understanding of how noise can break critical tip link protein structure in inner ear cells

University of Tübingen heads Neuromics consortium

Studies provide first clues of balanced de novo chromosomal rearrangements

Researchers discover cellular pathway that causes lung-damaging inflammation in CF

Positive results from Santarus and Pharming’s RUCONEST Phase III trial on HAE

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

Study highlights potential treatment that reduces kidney growth

Imatinib mesylate effectively treats children with neurofibromatosis type 1 tumors

New video-protocol details steps to generate human iPSCs from peripheral blood cells

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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