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.

Twice-daily KALYDECO improves lung function in people with cystic fibrosis

Vertex Pharmaceuticals (Australia) Pty Ltd., announces the presentation of data from KALYDECO (ivacaftor) studies at the 10th Australasian Cystic Fibrosis Conference in Auckland, New Zealand, August 17 – 20, 2013, which further demonstrate the benefits of the medicine in 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.

21 Aug 2013

Illumina announces availability of its newest reagent kits for MiSeq benchtop sequencer

Illumina, Inc. today announced the availability of its newest reagent kits for the MiSeq, the industry's most accurate and easiest-to-use benchtop sequencer. The improved chemistry doubles sequencing output to 15 gigabases (Gb) by increasing the number of sequencing reads (up to 25 million reads) and overall read length (up to 2x300 base pairs). These innovations enable researchers to perform new applications including exome sequencing on the MiSeq.

From Illumina, Inc. 19 Aug 2013

Rice researchers frame rules to design viral capsid proteins for gene therapy

Rice University researchers are making strides toward a set of rules to custom-design Lego-like viral capsid proteins for gene therapy.

13 Aug 2013

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

DASA Group and Natera today announced that DASA Group will begin offering Natera's non-invasive prenatal test Panorama for the detection of genetic syndromes common in the population, such as trisomy 21 (Down syndrome), trisomy 13 (Patau Syndrome ), trisomy 18 (Edwards syndrome) and monosomy X (Turner syndrome).

From Natera 8 Aug 2013

Deletion of a protein improves ability to fight bacteria in mice with CGD

Deletion of a protein in white blood cells improves their ability to fight the bacteria staphylococcus aureus and possibly other infections in mice with chronic granulomatous disease (CGD), according to a National Institutes of Health study. CGD, a genetic disorder also found in people, is marked by recurrent, life-threatening infections. The study's findings appear online in The Journal of Clinical Investigation.

2 Aug 2013

New NIH projects to target Fragile X syndrome, nicotine addiction and AMD

The National Institutes of Health has launched three innovative projects that will focus on development of therapeutics for Fragile X syndrome, nicotine addiction, and age-related macular degeneration. These projects are funded through the NIH Blueprint Neurotherapeutics Network which provides access to a variety of drug development resources.

1 Aug 2013

CHOP researchers advance stem cell studies in childhood leukemia, Diamond Blackfan anemia

First produced only in the past decade, human induced pluripotent stem cells are capable of developing into many or even all human cell types. In new research, scientists reprogrammed skin cells from patients with rare blood disorders into iPSCs, highlighting the great promise of these cells in advancing understanding of those challenging diseases-and eventually in treating them.

31 Jul 2013

Study may lead to personalized treatments for mitochondrial energy disorders

Researchers have identified a master network of signaling molecules that acts like a "fuse box" to regulate the cellular effects of defective energy flow in mitochondrial respiratory chain diseases—a diverse set of difficult-to-treat genetic-based energy disorders.

25 Jul 2013

Manchester scientists treat fatal genetic brain disease using stem cell gene therapy

Scientists from The University of Manchester have used stem cell gene therapy to treat a fatal genetic brain disease in mice for the first time.

From The University of Manchester 25 Jul 2013

Scientists identify new genetic mutations that can cause pulmonary arterial hypertension

Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs.

25 Jul 2013

BGI, CITIC-XIANGYA successfully apply NGS to detect IVF embryos with genetic abnormalities

The largest genomic institute of the world, BGI Shenzhen, China, together with Reproductive & Genetic Hospital CITIC-XIANGYA announced today that they have successfully applied Next Generation Sequencing to detect in vitro fertilized embryos with genetic abnormalities.

24 Jul 2013

International Consortium receives grant to examine genetic reasons of schizophrenia in deletion syndrome patients

Today, the Royal College of Surgeons in Ireland (RCSI) will host a two day International Brain and Behaviour Consortium meeting on Chromosome 22q11.2 Deletion Syndrome (22q11.2DS).

24 Jul 2013

Four research teams receive NIH grants to explore use of genome sequencing in medical care

The National Institutes of Health has awarded four grants for up to four years to multidisciplinary research teams to explore the use of genome sequencing in medical care. The awards total approximately $6.7 million in the first year and, if funding remains available, approximately $27 million in total.

24 Jul 2013

NIH study seeks genetic links to answer the 'Why?' of unexplained disorders

Even in the absence of a ready solution, knowing why a child faces physical, emotional and intellectual challenges is helpful to physicians and families. Researchers at the HudsonAlpha Institute for Biotechnology are using high throughput genomic sequencing to meet major diagnostic needs for childhood genetic disorders through a multi-year grant potentially totaling more than $7.6 million from the National Institutes of Health.

24 Jul 2013

FDA grants orphan drug designation to ARMAGEN's AGT-182 for treatment of Hunter syndrome

ARMAGEN announced today that the U.S. Food and Drug Administration has granted orphan drug designation to its lead product AGT-182 for the treatment of mucopolysaccharidosis type II (also known as Hunter syndrome or MPS II).

19 Jul 2013

CHOP-led research increases numbers of patients who could be treated with gene therapy

Gene therapy researchers have produced a bioengineered decoy that fools the immune system and prevents it from mistakenly defeating the benefits delivered by a corrective gene.

18 Jul 2013

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also known as Down syndrome, a genetic disorder characterized by cognitive impairment.

18 Jul 2013

Genetic Disorder News and Research

Further Reading

Twice-daily KALYDECO improves lung function in people with cystic fibrosis

Illumina announces availability of its newest reagent kits for MiSeq benchtop sequencer

Rice researchers frame rules to design viral capsid proteins for gene therapy

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

Deletion of a protein improves ability to fight bacteria in mice with CGD

New NIH projects to target Fragile X syndrome, nicotine addiction and AMD

CHOP researchers advance stem cell studies in childhood leukemia, Diamond Blackfan anemia

Study may lead to personalized treatments for mitochondrial energy disorders

Manchester scientists treat fatal genetic brain disease using stem cell gene therapy

Scientists identify new genetic mutations that can cause pulmonary arterial hypertension

BGI, CITIC-XIANGYA successfully apply NGS to detect IVF embryos with genetic abnormalities

International Consortium receives grant to examine genetic reasons of schizophrenia in deletion syndrome patients

Four research teams receive NIH grants to explore use of genome sequencing in medical care

NIH study seeks genetic links to answer the 'Why?' of unexplained disorders

FDA grants orphan drug designation to ARMAGEN's AGT-182 for treatment of Hunter syndrome

CHOP-led research increases numbers of patients who could be treated with gene therapy

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Study demonstrates effectiveness of everolimus for TSC patients

Specific types of intestinal bacteria are major contributors to lymphoma

'Defanged' HIV used to deliver gene therapy

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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