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.

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

Genetic testing for mutations beyond those currently recommended in medical guidelines may aid the identification of more couples at risk of having a child with cystic fibrosis, according to a study presented today at the 2015 American Society of Human Genetics Annual Meeting, which runs through October 10 in Baltimore, Maryland.

From Quest Diagnostics 13 Oct 2015

Scientists engineer stem cells to better understand mechanisms behind leukemia

Scientists engineered stem cells to better understand the mechanisms behind a form of leukemia caused by changes in a key gene, according to a study led by Mount Sinai researchers and published online today in the journal Cell Reports.

9 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

Invitae announces dramatic expansion of genetic testing menu

Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. Invitae is immediately expanding its menu with dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric and other rare disorders.

7 Oct 2015

Oxford Gene Technology launches Cytocell FISH probe for bladder cancer

Oxford Gene Technology (OGT), The Molecular Genetics Company, has launched its CE-IVD labelled Cytocell Aquarius® P16/3c/7c/17c Probe Kit, a cost-effective, ready-to-use fluorescence in situ hybridisation (FISH) probe kit for non-invasive detection of bladder cancer — for sale in Europe.

From Oxford Gene Technology 6 Oct 2015

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Carrier screening provides you and your doctor with information about your risks of having a child with a serious genetic disease prior to or during pregnancy.

6 Oct 2015

Tarix Orphan's TXA127 granted FDA Fast Track Designation for treatment of DMD patients

Tarix Orphan LLC, a privately held biopharmaceutical company focused on the treatment of rare neuromuscular disorders and connective tissue diseases, today announced that the U.S. Food and Drug Administration has granted Fast Track Designation to TXA127 (angiotensin 1-7) to reduce skeletal muscle damage and fibrosis and thereby improve muscle strength in Duchenne Muscular Dystrophy (DMD) patients.

6 Oct 2015

Novel computational strategy may help identify genetic variants that cause disease in children

The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic variants that cause disease in young children.

6 Oct 2015

AMO Pharma raises $25 million in private equity financing

AMO Pharma Limited, a privately held biopharmaceutical company focusing on debilitating diseases with limited or no treatment options, announced today that the company has raised $25 million in private equity financing from Woodford Investment Management.

30 Sep 2015

New gene therapy approach to treating DMD reduces symptoms, extends life span in mouse model

A gene therapy approach to treating the progressive muscle wasting disorder Duchenne muscular dystrophy (DMD) that does not replace the mutated DMD gene but instead delivers the gene for ITGA7, a protein in skeletal muscle, led to reduced symptoms and significantly extended life span in a mouse model of severe DMD. Over-expression of ITGA7 did not elicit an immune reaction, further supporting its potential as a novel treatment for DMD, according to a new study published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

30 Sep 2015

New report implicates five genetic regions that play major roles in CF disease severity

If you have two faulty copies of the CFTR gene, you will have cystic fibrosis. But the severity of your disease will depend on environmental factors and many other genes. Locating these genes and altering their function could lead to new therapies.

29 Sep 2015

Matchmaker Exchange platform launched for uncovering rare disease genes

In a special issue of Human Mutation, a team including investigators at Brigham and Women's Hospital has announced the launch of the Matchmaker Exchange - a way for the rare disease community to share information and find new connections. Matchmaker Exchange connects databases of genetic information and symptoms that physicians and investigators can "match" with a patient's rare disease.

25 Sep 2015

HSCI researchers find surprising similarities between SMA and ALS

Harvard Stem Cell Institute researchers studying spinal muscular atrophy (SMA) have found what they term "surprising similarities" between this childhood disorder that attacks motor neurons and amyotrophic lateral sclerosis (ALS), more commonly known as Lou Gehrig's disease.

25 Sep 2015

Rhythm Metabolic awarded FDA grant to advance ongoing setmelanotide clinical trial in Prader-Willi syndrome

Rhythm announced today the award of a $1 million research grant from the FDA Office of Orphan Products Development to its subsidiary, Rhythm Metabolic, Inc., to support the ongoing Phase 2 clinical trial of setmelanotide, the company's novel peptide MC4 agonist, for the treatment of obesity and hyperphagia in Prader-Willi syndrome (PWS).

24 Sep 2015

UCSF researchers successfully separate human muscle stem cells

UC San Francisco researchers have successfully isolated human muscle stem cells and shown that the cells could robustly replicate and repair damaged muscles when grafted onto an injured site. The laboratory finding paves the way for potential treatments for patients with severe muscle injury, paralysis or genetic diseases such as muscular dystrophy.

23 Sep 2015

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

To understand deep learning in the context of genetic disease, you need to understand shallow learning first. Shallow learning relates mutations to diseases by looking for mutations that commonly occur in patients with a disease. It’s a commonly used method.

21 Sep 2015

UCPH, Beckman Coulter Genomics identify effects of cancer on protein signaling networks within human cells

Studies published of early results of the strategic collaboration between Beckman Coulter Genomics and Linding Lab at UCPH.

From Beckman Coulter Life Sciences - Automation and Genomics 18 Sep 2015

Researchers identify protein that regulates neuron growth

An international team of researchers, led by scientists at the National University of Singapore (NUS), has identified a protein that regulates the growth of neurons by transporting key metabolic enzymes to the tips of neural cells.

18 Sep 2015

New whitepaper describes benefits of using OGT’s CytoSure Medical Research Exome Array in genetic research

Oxford Gene Technology, The Molecular Genetics Company, has been speaking to genetic scientists, Dr Tracey Lewis (Associated Regional and University Pathologists Laboratories) and Dr Emily Farrow (Children’s Mercy Hospital), in a new whitepaper entitled “Examining the Medical Exome”.

From Oxford Gene Technology 15 Sep 2015

Experts provide insights on role of genetic testing in diagnosis and care of pediatric epilepsy

The steps involved in evaluating and diagnosing patients with epilepsy are complicated. In a new and extensive literature review of available information, experts provide insights on the valuable role of genetic testing in the diagnosis and care of pediatric epilepsy.

15 Sep 2015

Genetic Disorder News and Research

Further Reading

Quest Diagnostics scientists demonstrate new molecular combing technique that predicts cystic fibrosis, muscular dystrophy

Scientists engineer stem cells to better understand mechanisms behind leukemia

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Invitae announces dramatic expansion of genetic testing menu

Oxford Gene Technology launches Cytocell FISH probe for bladder cancer

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Tarix Orphan's TXA127 granted FDA Fast Track Designation for treatment of DMD patients

Novel computational strategy may help identify genetic variants that cause disease in children

AMO Pharma raises $25 million in private equity financing

New gene therapy approach to treating DMD reduces symptoms, extends life span in mouse model

New report implicates five genetic regions that play major roles in CF disease severity

Matchmaker Exchange platform launched for uncovering rare disease genes

HSCI researchers find surprising similarities between SMA and ALS

Rhythm Metabolic awarded FDA grant to advance ongoing setmelanotide clinical trial in Prader-Willi syndrome

UCSF researchers successfully separate human muscle stem cells

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

UCPH, Beckman Coulter Genomics identify effects of cancer on protein signaling networks within human cells

Researchers identify protein that regulates neuron growth

New whitepaper describes benefits of using OGT’s CytoSure Medical Research Exome Array in genetic research

Experts provide insights on role of genetic testing in diagnosis and care of pediatric epilepsy

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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