Genetic Disorder News and Research

RSS

A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Researchers identify gene crucial to development of coeliac disease

Coeliac disease is a chronic, immunological disease that is manifested as intolerance to gluten proteins present in wheat, rye and barley. This intolerance leads to an inflammatory reaction in the small intestine that hampers the absorption of nutrients. The only treatment is a strict, life-long, gluten-free diet.

11 Apr 2016

Infant daughters may show early signs of PCOS from mothers

The infant daughters of women with polycystic ovary syndrome (PCOS) show a higher level of an enzyme that activates testosterone and may be an early sign of developing the complex genetic disease, according to a new Northwestern Medicine study.

7 Apr 2016

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Cerebral cavernous malformations (CCMs) are clusters of dilated, thin-walled blood vessels in the brain that can cause stroke and seizures, yet exactly how they form is somewhat of a mystery. Now, a team from the Perelman School of Medicine at the University of Pennsylvania has discovered the molecular mechanism that underlies this common cerebrovascular disease. They published their results this week online ahead of print in Nature.

31 Mar 2016

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

While childhood cancer is rare (adult malignancies after 20 years are 20-30 times more common in general) it remains a major cause of death by disease in children. 15,700 children are diagnosed with cancer each year in the USA.

31 Mar 2016

Inactivation of protein-coding gene promotes liver tissue regeneration in mammals

Scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) report that inactivating a certain protein-coding gene promotes liver tissue regeneration in mammals.

26 Mar 2016

Personalized medicine promises better treatment options for cystic fibrosis patients

For a highly variable disease like cystic fibrosis, personalized medicine promises treatments based on individual factors, down to the molecular level. This promise is especially alluring for the treatment of children with cystic fibrosis, who are at particular risk for complications that could affect them throughout their lives.

25 Mar 2016

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

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

UNIGE researchers identify new 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. Among all genetic conditions, diseases known as "recessive" occur only when both the father and the mother are healthy carriers of the same defective gene which can be passed down to their children.

18 Mar 2016

Anti-anxiety drug reduces autistic features in Jacobsen syndrome mice

About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it to unravel the molecular mechanism that connects the genetic defects inherited in Jacobsen syndrome to effects on brain function.

16 Mar 2016

Researchers identify new mutation responsible for spinocerebellar ataxia

Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.

15 Mar 2016

Researchers develop effective technique for studying high-arched palate using mouse model

Researchers from the laboratory of Paul Trainor, Ph.D., at the Stowers Institute of Medical Research have developed an effective and reliable technique for studying high-arched palate using a mouse model. The methodology could expand research into the genetic aspects of this craniofacial abnormality.

27 Feb 2016

New Notre Dame research may lead to a therapy for Niemann-Pick Type C disease

Niemann-Pick Type C (NPC) disease is a rare, fatal neurodegenerative disease for which there is currently no cure. NPC primarily strikes children before and during adolescence and affects one in every 150,000 children. The disease causes cholesterol and other lipids to build up in the body's cells, which results in symptoms such as delayed motor development, deterioration of memory and balance, and seizures.

26 Feb 2016

Dr. Elliot J. Androphy receives IGNITE grant to develop drug candidate for spinal muscular atrophy

Dr. Elliot J. Androphy, the Kampen-Norins Professor and chair of the Department of Dermatology at the Indiana University School of Medicine, has been awarded an IGNITE, or Innovation Grants to Nurture Initial Translational Efforts, grant by the National Institutes of Health.

22 Feb 2016

Duke engineers develop technique to make artificial arteries that produce biochemical signals

Duke engineers have developed a technique to make artificial arteries that naturally produce biochemical signals vital to their functions. The technique is also ten times faster than current methods for tissue engineering of blood vessels.

19 Feb 2016

New method could help scientists better predict disease-causing mutations in people's genes

Two researchers at the University of Tennessee, Knoxville, have developed a method that could help clinicians and scientists better predict which mutations in people's genes could cause a disease and which would remain dormant.

18 Feb 2016

New approach could be used to treat Duchenne muscular dystrophy

Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy.

14 Feb 2016

TSRI scientists receive $1.7 million NIH grant to find new target for treating Huntington's disease

Scientists from the Florida campus of The Scripps Research Institute have won nearly $1.7 million from the National Institutes of Health's National Institute of Neurological Disorders and Stroke to investigate the mechanisms that contribute to Huntington's disease, a fatal inherited disease that some have described as having ALS, Parkinson's and Alzheimer's--at the same time.

12 Feb 2016

Kumamoto University researchers identify protein that limits severity of Alport syndrome

Researchers from Kumamoto University, Japan have identified a protein that limits the severity of Alport syndrome, a type of genetic kidney disease. The finding can provide clues that point toward new therapeutic approaches for Alport syndrome.

11 Feb 2016

Genetic Disorder News and Research

Further Reading

Researchers identify gene crucial to development of coeliac disease

Infant daughters may show early signs of PCOS from mothers

Penn researchers discover molecular mechanism that underlies common cerebrovascular disease

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

Inactivation of protein-coding gene promotes liver tissue regeneration in mammals

Personalized medicine promises better treatment options for cystic fibrosis patients

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

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

MU researchers use MRI to study effects of Phenylketonuria

UNIGE researchers identify new recessive disease

Anti-anxiety drug reduces autistic features in Jacobsen syndrome mice

Researchers identify new mutation responsible for spinocerebellar ataxia

Researchers develop effective technique for studying high-arched palate using mouse model

New Notre Dame research may lead to a therapy for Niemann-Pick Type C disease

Dr. Elliot J. Androphy receives IGNITE grant to develop drug candidate for spinal muscular atrophy

Duke engineers develop technique to make artificial arteries that produce biochemical signals

New method could help scientists better predict disease-causing mutations in people's genes

New approach could be used to treat Duchenne muscular dystrophy

TSRI scientists receive $1.7 million NIH grant to find new target for treating Huntington's disease

Kumamoto University researchers identify protein that limits severity of Alport syndrome

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

Latest News