Genetic News and Research

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Penn neurologists uncover new genetic cause of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes.

23 Mar 2016

Research findings offer new way to differentiate, treat patients with lung cancer

Research in Manchester has identified mutations in lung cancer that is key to tumour growth, offering a new way to differentiate and treat some patients with the disease.

23 Mar 2016

Addition of just two DNA bases to LdAQP1 gene helps Black Fever parasite to overcome antimonial drugs

Wellcome Trust Sanger Institute scientists show how the parasite responsible for the neglected tropical disease Black Fever (visceral leishmaniasis) can become resistant to drug treatment. Studying the whole genomes of more than 200 samples of Leishmania donovani revealed that the addition of just two bases of DNA to a gene known as LdAQP1 stops the parasite from absorbing antimonial drugs.

23 Mar 2016

Pediatric researchers find gene variants that can strongly increase bone strength in girls

Pediatric researchers have found that rare genetic changes strongly increase the likelihood that a child will have higher bone density, but only in girls.

23 Mar 2016

UC San Diego Health participates in nationwide clinical study on hemophilia B gene therapy

The Hemophilia and Thrombosis Treatment Center at UC San Diego Health has joined a nationwide clinical trial testing a potential gene therapy that may one day provide a better and long-lasting treatment for people with hemophilia B.

23 Mar 2016

MU researchers use MRI to study effects of Phenylketonuria

All children are screened for a host of conditions at birth, such as Phenylketonuria (PKU), a genetic disorder that is passed by mutated genes from both parents to their offspring. PKU is rare, only affecting one in every 10,000 children in the U.S.; therefore, it is seldom studied.

23 Mar 2016

Whole genome sequencing of chimpanzee parasite reveals clues about human malaria

Understanding the origins of emerging diseases - as well as more established disease agents -- is critical to gauge future human infection risks and find new treatment and prevention approaches. This holds true for malaria, which kills more than 500,000 people a year. Symptoms, including severe anemia, pregnancy-associated malaria, and cerebral malaria, have been linked to the parasite's ability to cause infected red blood cells to bind to the inner lining of blood vessels.

22 Mar 2016

Chronic lack of sleep lowers grades of students

Students who have a chronic lack of sleep have lower grades and find it harder to concentrate. Around a third of students do not feel well rested enough to be able to study properly.

22 Mar 2016

TGen investigators help track hypervirulent strep outbreak in southwestern U.S.

The Translational Genomics Research Institute (TGen) has helped state, local and tribal health officials identify an outbreak of "hypervirulent" strep bacteria in the American Southwest.

22 Mar 2016

Role of dietary restriction in lifespan extension

The role of dietary restriction in extending lifespan is the subject of research being conducted at the MDI Biological Laboratory in Bar Harbor, Maine, by visiting scientist Markus Schosserer, Ph.D., of the biotechnology department at the University of Natural Resources and Life Sciences, Vienna, in Austria.

22 Mar 2016

Shigella dysenteriae pathogen probably originated in Europe, genetic study reveals

The largest genetic study on the bacterium responsible for epidemic dysentery has revealed that the Shigella dysenteriae pathogen, which remains a real scourge in Africa and Asia, probably originated in Europe.

22 Mar 2016

TGen scientists highlight advantages of using RNA-sequencing in precision medicine

Uncovering the genetic makeup of patients using DNA sequencing has in recent years provided physicians and their patients with a greater understanding of how best to diagnose and treat the diseases that plague humanity. This is the essence of precision medicine.

22 Mar 2016

Research sheds new light on genetic relationship between ASD and ASD-related traits in wider population

New light has been shed on the genetic relationship between autistic spectrum disorders (ASD) and ASD-related traits in the wider population, by a team of international researchers including academics from the University of Bristol, the Broad Institute of Harvard and MIT, and Massachusetts General Hospital.

22 Mar 2016

Cell biologists identify new way for curing cancer and vessel diseases

Cell biologists from the Lomonosov Moscow State University discovered a new way of regulating of cell motility -- this discovery will make possible development of new drugs for curing onco- and vessel diseases.

22 Mar 2016

Researchers use DNA sequencing technology to identify gene variants that affect susceptibility to SLE

Demonstrating the potential of precision medicine, an international study based at UT Southwestern Medical Center used next-generation DNA sequencing technology to identify more than 1,000 gene variants that affect susceptibility to systemic lupus erythematosus (SLE).

21 Mar 2016

Advanced genomic sequencing tracks deadly blood infection in cancer patients

The Translational Genomics Research Institute, working with international investigators, have discovered the source of a potential deadly blood infection in more than 50 South American cancer patients.

21 Mar 2016

OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

Oxford Gene Technology, The Molecular Genetics Company, has announced the launch of its new CytoSure Constitutional v3 +LOH array for comprehensive genetic analysis of developmental delay disorders.

From Oxford Gene Technology 21 Mar 2016

Combined loss of XPO1, BCL11A and REL linked to 2p15p16.1 microdeletion syndrome

Individuals with 2p15p16.1 microdeletion syndrome present with intellectual disability, microcephaly, delayed growth, dysmorphic craniofacial features, and digital abnormalities.

21 Mar 2016

Researchers elucidate mechanisms underlying impaired ciliogenesis in PKD

In an article published online ahead of print on Feb. 19, 2015 in the Journal of Biological Chemistry, investigators at the Medical University of South Carolina and the Ralph H. Johnson VA Medical Center report findings from in vitro and in vivo studies that elucidate the mechanisms underlying the impaired ciliogenesis and abnormal kidney development characteristic of polycystic kidney disease (PKD).

21 Mar 2016

Novel compound shows promise as potential treatment for acute myeloid leukemia

A novel compound has shown promise in preclinical studies as a treatment for acute myeloid leukemia, more than doubling median days of survival even in a drug-resistant form of the disease.

21 Mar 2016

Genetic News and Research

Penn neurologists uncover new genetic cause of Charcot-Marie-Tooth Disease

Research findings offer new way to differentiate, treat patients with lung cancer

Addition of just two DNA bases to LdAQP1 gene helps Black Fever parasite to overcome antimonial drugs

Pediatric researchers find gene variants that can strongly increase bone strength in girls

UC San Diego Health participates in nationwide clinical study on hemophilia B gene therapy

MU researchers use MRI to study effects of Phenylketonuria

Whole genome sequencing of chimpanzee parasite reveals clues about human malaria

Chronic lack of sleep lowers grades of students

TGen investigators help track hypervirulent strep outbreak in southwestern U.S.

Role of dietary restriction in lifespan extension

Shigella dysenteriae pathogen probably originated in Europe, genetic study reveals

TGen scientists highlight advantages of using RNA-sequencing in precision medicine

Research sheds new light on genetic relationship between ASD and ASD-related traits in wider population

Cell biologists identify new way for curing cancer and vessel diseases

Researchers use DNA sequencing technology to identify gene variants that affect susceptibility to SLE

Advanced genomic sequencing tracks deadly blood infection in cancer patients

OGT launches new CytoSure Constitutional v3 +LOH array for genetic analysis of developmental disorders

Combined loss of XPO1, BCL11A and REL linked to 2p15p16.1 microdeletion syndrome

Researchers elucidate mechanisms underlying impaired ciliogenesis in PKD

Novel compound shows promise as potential treatment for acute myeloid leukemia

eBook: Using iPSCs models for human disease research and drug discovery 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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