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.

Study finds possible treatment strategy for Feingold syndrome type 1

A decrease in protein synthesis in cells of the developing gut contributes to a rare genetic disorder, and an inexpensive nutritional supplement may help reverse that decrease, according to a new study publishing November 1st in the open access journal PLOS Biology by Yun-Fei Li of Zhejiang University School of Medicine in Hangzhou, China, and colleagues. The finding is an advance in understanding the pathogenesis of the disease, and may lead to new treatments.

2 Nov 2022

OSU researchers take major step toward improving, lengthening the lives of cystic fibrosis patients

Researchers at Oregon State University and Oregon Health & Science University have taken a key step toward improving and lengthening the lives of cystic fibrosis patients, who experience chronically clogged airways and a dramatically shortened life expectancy.

27 Oct 2022

What parents need to know about prenatal tests | BGI Perspectives

The birth of every new life is to be celebrated! Expecting parents often advised by doctors from the department of gynecology and obstetrics to consider noninvasive prenatal tests (NIPT).

From BGI Genomics 26 Oct 2022

New method allows for a much more detailed examination of the brain processes

Scientists have developed a research method that allows for a much more detailed examination of the brain processes involved in some neurological and mental disorders.

12 Oct 2022

Zinc could improve the brain defects caused by rare genetic disorder

Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases, first identified in 2013, is caused by mutations in the GNAO1 gene.

10 Oct 2022

Cancer survival rate rises in the US

In a recent article by the American Association for Cancer Research (AACR), the researchers highlighted basic, translational, and clinical cancer research and cancer-related population sciences in the 12th edition of its annual Cancer Progress Report.

25 Sep 2022

Experimental drug prolongs survival, improves muscle function in mice severe Duchenne muscular dystrophy

Researchers at Johns Hopkins Medicine report that an experimental drug first developed to treat kidney disease prolongs survival and improves muscle function in mice genetically engineered to develop a severe form of Duchenne muscular dystrophy (DMD).

13 Sep 2022

New technology reveals cellular changes across neural-epithelial-vascular complex in choroideremia

By combining traditional eye imaging techniques with adaptive optics - a technology that enhances imaging resolution - researchers at the National Eye Institute have shown for the first time how cells across different tissue layers in the eye are affected in people with choroideremia, a rare genetic disorder that leads to blindness.

13 Sep 2022

Study reinforces the potential of Huntington’s treatments that target glia cells

Huntington's disease – a hereditary and fatal genetic disorder – has long been considered a neuronal disease due to the permanent loss of medium spiny motor neurons, the death of which over time is responsible for the clinical hallmarks of the disease: involuntary movements, problems with coordination, cognitive decline, depression, and psychosis.

30 Aug 2022

Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

Cystic fibrosis remains an incurable genetic disorder which impairs lung function and significantly reduces life expectancy.

8 Aug 2022

NIH researchers develop three-dimensional structure of twinkle protein

Researchers from the National Institutes of Health have developed a three-dimensional structure that allows them to see how and where disease mutations on the twinkle protein can lead to mitochondrial diseases.

5 Aug 2022

Insights into molecular folding of AAT protein will help develop new therapies for alpha-1 antitrypsin deficiency

In a major new development in the quest to develop better gene therapies with which to treat a host of diseases, researchers at the University of Massachusetts Amherst and UMass Chan Medical School recently announced that they have mapped the expression and maturation of the protein alpha-1 antitrypsin (AAT) with unprecedented clarity.

25 Jul 2022

Geisinger researchers receive two grants to study risk factors linked with familial hypercholesterolemia

Geisinger researchers have been awarded two grants from the National Heart, Lung and Blood Institute, part of the National Institutes of Health, to study risk factors associated with familial hypercholesterolemia (FH) and ways to improve screening, diagnosis and communication with patients.

13 Jul 2022

Study reveals tiny gene fragments as crucial new players in retinal development and vision

Researchers at the Centre for Genomic Regulation in Barcelona reveal that Srrm3 is a master regulator gene crucial for the development of photoreceptors, cells in the back of the retina which capture and process light, sending signals to the brain that enable vision.

13 Jul 2022

Roundworms shed light on vision loss in a rare human genetic disorder

In this interview, News-Medical speaks to Xinxing Zhang, a postdoctoral research fellow at the University of Michigan, about his research investigating vision loss in Bardet-Biedl syndrome.

4 Jul 2022

Cancer drug helped delay progression of Duchenne muscular dystrophy in mice

Researchers at UBC’s School of Biomedical Engineering have discovered that an existing cancer drug could have potential as a treatment for muscular dystrophy.

1 Jul 2022

Existing cancer drug shows promise for treating patients with muscular dystrophy

Researchers at the University of British Columbia's School of Biomedical Engineering have discovered that an existing cancer drug could have potential as a treatment for muscular dystrophy.

29 Jun 2022

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)-; a genetic disorder characterized by weakness and wasting in muscles-; can reduce the total financial costs associated with the condition.

8 Jun 2022

New smartphone app helps identify severe jaundice in newborn babies

A smartphone app that identifies severe jaundice in newborn babies by scanning their eyes could be a life-saver in areas that lack access to expensive screening devices, suggests a study co-authored by researchers at UCL (University College London) and the University of Ghana.

3 Jun 2022

Scientists discover a new role for protein complex at the center of Bardet-Biedl syndrome

Scientists have identified a new role for a protein complex at the center of a human genetic disorder called Bardet-Biedl syndrome, or BBS, for which there is currently no cure.

31 May 2022