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.

Jain Foundation's dysferlinopathy clinical study exceeds original goal of 150 patients

The Jain Foundation is delighted to announce that 193 patients have been recruited into the Clinical Outcome Study for Dysferlinopathy (COS), exceeding the original goal of 150 patients.

2 Apr 2014

Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

Xiangling Wang, MD, PhD of Mayo Clinic in Rochester, MN was honored as the 2014-2015 recipient of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2014 Annual Clinical Genetics Meeting in Nashville, TN.

2 Apr 2014

Researchers find potential way to ease physical damage of numerous genetic disorders

Duke Medicine researchers studying tiny, antennae-like structures called cilia have found a potential way to ease some of the physical damage of numerous genetic disorders that result when these essential cellular components are defective.

2 Apr 2014

Machaon Diagnostics' aHUS Genetic Panel confirms atypical Hemolytic Uremic Syndrome in 48 hours

Machaon Diagnostics today announced the availability of its "aHUS Genetic Panel" (patent pending) to genetically confirm atypical Hemolytic Uremic Syndrome (aHUS) with a turnaround time of 48 hours. The 48 hour timeframe is a dramatic advancement over other approaches which offer results in 4-13 weeks.

1 Apr 2014

Amgen reports positive findings from AMG 145 Phase 3 studies in patients at risk for cardiovascular disease

Amgen (NASDAQ: AMGN) today announced new detailed data from three Phase 3 studies that showed treatment with its novel investigational cholesterol-lowering medication, evolocumab (AMG 145), resulted in a statistically significant reduction of 55-66 percent in low-density lipoprotein cholesterol (LDL-C) compared to placebo in patients with high cholesterol.

31 Mar 2014

New gene-editing system holds potential for treating many genetic disorders

Using a new gene-editing system based on bacterial proteins, MIT researchers have cured mice of a rare liver disorder caused by a single genetic mutation.

31 Mar 2014

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRCM researchers led by Javier M. Di Noia, PhD, uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences, helps explain a rare genetic disorder that causes an immunodeficiency syndrome.

28 Mar 2014

Study lays groundwork for PET imaging studies on human Menkes disease

Scientists at the RIKEN Center for Life Science Technologies have used PET imaging to visualize the distribution in the body of copper, which is deregulated in Menkes disease, a genetic disorder, using a mouse model. This study lays the groundwork for PET imaging studies on human Menkes disease patients to identify new therapy options.

26 Mar 2014

New way to make large concentrations of skeletal muscle cells from human stem cells

As stem cells continue their gradual transition from the lab to the clinic, a research group at the University of Wisconsin-Madison has discovered a new way to make large concentrations of skeletal muscle cells and muscle progenitors from human stem cells.

24 Mar 2014

Researchers identify steps by which cell removes RNA from cytoplasm

RNA encodes the proteins that play a key role in cellular reproduction, but the manner in which cells regulate its removal once these proteins are synthesized remains a mystery. One piece of this mystery has been solved as researchers at the University of North Carolina at Chapel Hill who have identified the steps by which a cell removes RNA from the cytoplasm.

21 Mar 2014

New tool pinpoints genetic sources of disease

Many diseases are the result of either variations in the genome or reversible chemical changes to DNA, known as the epigenome. New data obtained by Johns Hopkins scientists show a connection between genetic variants and epigenetic information.

20 Mar 2014

USTAR Center for Genetic Discovery to integrate genome data with patient care

The USTAR Center for Genetic Discovery is partnering with California based Omicia, Inc, to make analyzing a patient's genome as routine as performing a blood test.

19 Mar 2014

Amgen announces results from Phase 3 TESLA Trial of evolocumab in patients with HoFH

Amgen (NASDAQ: AMGN) today announced that the Phase 3 TESLA (Trial Evaluating PCSK9 Antibody in Subjects with LDL Receptor Abnormalities) trial evaluating evolocumab met its primary endpoint of the percent reduction from baseline at week 12 in low-density lipoprotein cholesterol (LDL-C).

19 Mar 2014

Patients with congenital disorders are urged to register with CMDIR to advance clinical trials

If you are affected by Malignant Hyperthermia, Congenital Muscular Dystrophies or Congenital Myopathy Subtypes, the Malignant Hyperthermia Association of the United States and the Cure Congenital Muscle Disease organization are asking for your help to enable research and clinical trials by registering with the Congenital Muscle Disease International Registry (CMDIR).

13 Mar 2014

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

11 Mar 2014

Trophos' olesoxime shows beneficial effect on maintaining motor function in SMA patients

Trophos today announces that top-line results from a pivotal clinical trial of its lead product candidate olesoxime in spinal muscular atrophy (SMA) show a beneficial effect on the maintenance of motor function in SMA patients. If approved, olesoxime could be the first treatment specifically developed for SMA patients.

10 Mar 2014

Scientists throw light on genetic mutation that causes particularly severe genetic disease ARVC5

The genetic disease ARVC leads to sudden cardiac death and is more common than it has been hitherto assumed. This is reported by an international team of researchers headed by Prof Dr Hendrik Milting from the Heart and Diabetes Center NRW in the "European Heart Journal".

7 Mar 2014

Safeguard Scientifics reports net income of $24 million for fourth quarter 2013

Safeguard Scientifics, Inc. today announced fourth quarter and full-year 2013 financial results. For the three months ended December 31, 2013, Safeguard's net income was $24.0 million, or $1.10 per share, compared to net loss of $10.8 million, or $0.51 per share for the same period in 2012. For the year ended December 31, 2013, Safeguard's net loss was $35.5 million, or $1.66 per share, compared to $39.4 million, or $1.88 per share for the same period in 2012.

6 Mar 2014

Scientists throw light on genetic mutation that causes ARVC5 in Newfoundland

Scientists have thrown light on the genetic mutation that causes a particularly severe genetic disease (ARVC5) on the Canadian island Newfoundland in 2008.

6 Mar 2014

Treating cystic fibrosis: an interview with Simon Bedson, Senior Vice President and International General Manager at Vertex

Cystic fibrosis is a rare, life-shortening genetic disease for which there is no cure. It affects more than 75,000 people worldwide. In CF, thick, sticky mucus blocks the passages in many organs, leading to a variety of symptoms. In particular, mucus builds up and clogs airways in the lungs making it easier for bacteria to grow.

5 Mar 2014

Genetic Disorder News and Research

Further Reading

Jain Foundation's dysferlinopathy clinical study exceeds original goal of 150 patients

Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

Researchers find potential way to ease physical damage of numerous genetic disorders

Machaon Diagnostics' aHUS Genetic Panel confirms atypical Hemolytic Uremic Syndrome in 48 hours

Amgen reports positive findings from AMG 145 Phase 3 studies in patients at risk for cardiovascular disease

New gene-editing system holds potential for treating many genetic disorders

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

Study lays groundwork for PET imaging studies on human Menkes disease

New way to make large concentrations of skeletal muscle cells from human stem cells

Researchers identify steps by which cell removes RNA from cytoplasm

New tool pinpoints genetic sources of disease

USTAR Center for Genetic Discovery to integrate genome data with patient care

Amgen announces results from Phase 3 TESLA Trial of evolocumab in patients with HoFH

Patients with congenital disorders are urged to register with CMDIR to advance clinical trials

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Trophos' olesoxime shows beneficial effect on maintaining motor function in SMA patients

Scientists throw light on genetic mutation that causes particularly severe genetic disease ARVC5

Safeguard Scientifics reports net income of $24 million for fourth quarter 2013

Scientists throw light on genetic mutation that causes ARVC5 in Newfoundland

Treating cystic fibrosis: an interview with Simon Bedson, Senior Vice President and International General Manager at Vertex

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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