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.

UCL researchers identify four genes that drive shape of human noses

Genes that drive the shape of human noses have been identified by a UCL-led study. The four genes mainly affect the width and 'pointiness' of noses which vary greatly between different populations. The new information adds to our understanding of how the human face evolved and may help contribute to forensic DNA technologies that build visual profiles based on an individual's genetic makeup.

20 May 2016

New lab blood test may help identify HELLP syndrome in pregnant women

A laboratory blood test developed at Johns Hopkins for the diagnosis of a rare genetic red blood cell disorder also shows promise in identifying HELLP syndrome, a life-threatening high blood pressure condition affecting 1 percent of all pregnant women that causes hypertension along with end organ damage, researchers report in the May issue of the journal Experimental Hematology.

19 May 2016

Hydroxyurea treatment improves pulmonary function decline in children with sickle cell disease

For the first time, researchers were able to demonstrate that children diagnosed with sickle cell disease showed improvement in lung function after treatment with hydroxyurea, a treatment that is underused despite its demonstrated benefits.

19 May 2016

Study suggests ways of minimizing DNA folding errors

Induced pluripotent stem cells hold promise for regenerative medicine because they can, in theory, turn into any type of tissue and because they are made from a patient's own adult cells, guaranteeing compatibility. However, the technique that turns adult cells into these iPS cells is not foolproof; after reverting to their pluripotent state, these cells don't always correctly differentiate back into adult cells.

11 May 2016

Genetic mutations may be key culprit behind ciliopathies, study shows

Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births.

11 May 2016

TSRI scientists expanding web services to improve biomedical research

A team of scientists at The Scripps Research Institute is expanding web services to make biomedical research more efficient. With their free, public projects, MyGene.info and MyVariant.info, researchers around the world have a faster way to spot new connections between genes and disease.

11 May 2016

Shire launches awareness campaign to improve lives of people with rare MPS

Shire plc announces a campaign to enable people to connect and share information about MPS (mucopolysaccharide) diseases around the world.

11 May 2016

Minihepcidins may potentially treat serious genetic blood diseases in children, adults

New research suggests that synthetic peptides called minihepcidins may potentially treat two serious genetic blood diseases in children and adults. Although those diseases, beta-thalassemia and polycythemia vera, have opposite effects on red blood cell production, treating animals with minihepcidin helps to restore normal levels of red blood cells and reduces spleen enlargement. It also controls the accumulation of excess levels of iron in beta-thalassemia that often causes severe toxic effects.

9 May 2016

OGT launches Cytocell FISH probes for glial tumours

Oxford Gene Technology (OGT), The Molecular Genetics Company, has launched its CE-IVD labelled Cytocell Aquarius® 1p36/1q25 and 19q13/19p13 Deletion Probe Kit*, a cost-effective fluorescence in situ hybridisation (FISH) kit for the reliable investigation of glial tumours.

4 May 2016

Southern Society bestows 2016 Clinical Science Young Investigator Award to Stansfield

Dr. Brian K. Stansfield, neonatologist at Children's Hospital of Georgia and a 2004 graduate of the Medical College of Georgia at Augusta University, has received the 2016 Clinical Science Young Investigator Award from the Southern Society for Pediatric Research.

30 Apr 2016

Key gene changes reveal four previously unknown conditions within schizophrenia

Changes in key genes clearly define four previously unknown conditions within the umbrella diagnosis of schizophrenia, according to a study led by researchers from NYU Langone Medical Center published online April 28 in EBioMedicine, a Lancet journal. Cases associated with changes in each of the four genes were different from each other in terms of symptoms, intelligence level and other disease features.

29 Apr 2016

New fluorescent chemical probes that measure enzyme levels can diagnose inherited genetic disorders

Scientists at the Universities of York and Leiden have made a significant breakthrough in the treatment of an inherited genetic disorder which damages muscle and nerve cells in the body.

29 Apr 2016

Rapamycin drug could target neural damage linked to Leigh syndrome

Salk Institute scientists showed how an FDA-approved drug boosts the health of brain cells by limiting their energy use. Like removing unnecessary lighting from a financially strapped household to save on electricity bills, the drug--called rapamycin--prolongs the survival of diseased neurons by forcing them to reduce protein production to conserve cellular energy.

27 Apr 2016

University of Leicester-led researchers solve 3D structure of NuRD complex that plays role in cancer

A team of researchers led by the University of Leicester has shed new light on how the regulation machinery that controls gene expression works by characterising a complex known as the NuRD complex.

27 Apr 2016

Disorders in PIGG gene can cause intellectual disability with seizures and hypotonia

A research group led by Osaka University and collaborative institutions discovered that disorders in the same gene PIGG are the cause for intellectual disability with seizures and hypotonia. PIGG is one of the enzymes active in the GPI anchor glycolipid synthesis and the current study revealed its significance in the development of the cerebral nervous system.

22 Apr 2016

Subtle changes in protein-coding gene may cause different genetic disorders

It has been disorienting to the scientific and medical community as to why different subtle changes in a protein-coding gene causes many different genetic disorders in different patients -- including premature aging, nerve problems, heart problems and muscle problems. no other gene works like this. According to a new study, co-authored by Binghamton University faculty Eric Hoffman, it has to do with cell "commitment."

22 Apr 2016

Study shows children with rare eye disease have greatest benefit from gene therapy

Scientists at Oregon Health & Science University's Casey Eye Institute and Baylor College of Medicine's Cullen Eye Institute published findings from a two-year Phase I clinical trial in the journal Ophthalmology, which showed that children had the greatest benefit from gene therapy for treatment of Leber congenital amaurosis (LCA) or severe early childhood onset retinal degeneration (SECORD).

18 Apr 2016

UAB lab to offer new tests for genetic diseases using next-generation sequencing

The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.

18 Apr 2016

UNIGE researchers identify PIGG gene that plays crucial role in recessive disease

The objective of genetic medicine is to analyze all the genes that make up the human genome, in order to identify as many genetic diseases as possible. Indeed, each gene variation has the potential to trigger specific defects.

15 Apr 2016

Oxford Gene Technology develops new FISH probes in ‘outstanding’ Innovate UK project

Oxford Gene Technology (OGT), The Molecular Genetics Company, has developed a new range of non-human fluorescence in situ hybridisation (FISH) probes, for pig, chicken and mouse. The probes were developed as part of an Innovate UK knowledge transfer partnership (KTP) funded project in collaboration with the University of Kent, and was given an ‘outstanding’ award reserved for the top 10% of KTP projects.

13 Apr 2016

Genetic Disorder News and Research

Further Reading

UCL researchers identify four genes that drive shape of human noses

New lab blood test may help identify HELLP syndrome in pregnant women

Hydroxyurea treatment improves pulmonary function decline in children with sickle cell disease

Study suggests ways of minimizing DNA folding errors

Genetic mutations may be key culprit behind ciliopathies, study shows

TSRI scientists expanding web services to improve biomedical research

Shire launches awareness campaign to improve lives of people with rare MPS

Minihepcidins may potentially treat serious genetic blood diseases in children, adults

OGT launches Cytocell FISH probes for glial tumours

Southern Society bestows 2016 Clinical Science Young Investigator Award to Stansfield

Key gene changes reveal four previously unknown conditions within schizophrenia

New fluorescent chemical probes that measure enzyme levels can diagnose inherited genetic disorders

Rapamycin drug could target neural damage linked to Leigh syndrome

University of Leicester-led researchers solve 3D structure of NuRD complex that plays role in cancer

Disorders in PIGG gene can cause intellectual disability with seizures and hypotonia

Subtle changes in protein-coding gene may cause different genetic disorders

Study shows children with rare eye disease have greatest benefit from gene therapy

UAB lab to offer new tests for genetic diseases using next-generation sequencing

UNIGE researchers identify PIGG gene that plays crucial role in recessive disease

Oxford Gene Technology develops new FISH probes in ‘outstanding’ Innovate UK project

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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