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.

One-time treatment slows onset and progression of ALS, study finds

Studies of a therapy designed to treat amyotrophic lateral sclerosis suggest that the treatment dramatically slows onset and progression of the deadly disease, one of the most common neuromuscular disorders in the world.

10 Sep 2013

International team of scientists discover new disease related to inability to process Vitamin B12

An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.

6 Sep 2013

Study: Death risk is greatest for those who developed hypertrophic cardiomyopathy in childhood

A long-term study of children with a complex heart condition called hypertrophic cardiomyopathy (HCM) found that the risk of death or need for immediate listing for heart transplantation was greatest for those who developed this disease as infants with congestive heart failure and for children who also had selective inborn errors of metabolism, a group of rare genetic disorders in which one or more of the body's key metabolic processes are disrupted.

5 Sep 2013

UNC study to explore technology use in screening newborns for genetic conditions

As the clinical use of genomic testing expands, the practical and ethical considerations of using the technology to screen newborns for genetic conditions will be the focus of a new study undertaken at the University of North Carolina.

5 Sep 2013

UCLA researchers receives $13M Early Translational grants to advance innovative discoveries using stem cells

Four researchers from UCLA's Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have received Early Translational Research Awards totaling approximately $13 million from the California Institute for Regenerative Medicine, the state's stem cell agency. The UCLA researchers received four of the 12 total awards; no other institution received more than one.

4 Sep 2013

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

This rare genetic condition can theoretically affect patients at any age but symptoms are more often observed in childhood and even uncommonly during the first days of life.

2 Sep 2013

Drug for children with sickle cell anemia reduces hospitalizations and treatment costs

A drug proven effective for treatment of adults and children with sickle cell anemia reduced hospitalizations and cut annual estimated medical costs by 21 percent for affected infants and toddlers, according to an analysis led by St. Jude Children's Research Hospital. The report appears today in the advance online edition of the journal Pediatrics.

2 Sep 2013

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Professor Hannes Lohi's research group at the University of Helsinki and Folkh-lsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds.

30 Aug 2013

Stem cell researchers receive Early Translational research awards from CIRM

Four prominent researchers from UCLA's Eli & Edythe Broad Center of Regenerative Medicine and Stem Cell Research have received Early Translational research awards totaling approximately $13 million from the California Institute for Regenerative Medicine (CIRM) the state stem cell agency. The UCLA researchers received four of the 12 total awards; no other applicant institution received more than one award.

30 Aug 2013

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

30 Aug 2013

Malignant Hyperthermia Scientific Conference to be held at University of Toronto

The 2013 Malignant Hyperthermia (MH) Scientific Conference is being held at the Chestnut Conference Centre, University of Toronto, Canada on November 1st and 2nd, 2013 and is sponsored by Malignant Hyperthermia Association of the United States (MHAUS) in conjunction with The University of Toronto.

29 Aug 2013

Scientists develop complex human brain tissue in 3D culture system

Complex human brain tissue has been successfully developed in a three-dimensional culture system established in an Austrian laboratory. The method described in the current issue of NATURE allows pluripotent stem cells to develop into cerebral organoids - or "mini brains" - that consist of several discrete brain regions.

29 Aug 2013

URI professor studies rare hereditary disorder Fanconi anemia in children

When 2-year-old Logan Stevenson served as best man at his parents' wedding just days before he died of a rare genetic disorder, it drew international attention to a disease about which few people had ever heard. Hearing about Logan's story added another level of urgency to the research being conducted by University of Rhode Island Associate Professor Niall Howlett.

28 Aug 2013

TSRI scientists find way to use new DNA-editing technology for DNA sequencing

Scientists at The Scripps Research Institute have found a way to apply a powerful new DNA-editing technology more broadly than ever before.

27 Aug 2013

Study: Structural defect in skin cells can contribute to allergy development

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allergies, traditionally thought primarily to be a dysfunction of the immune system.

27 Aug 2013

Researchers discover additional cystic fibrosis-causing mutations

Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis, it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.

26 Aug 2013

DeNovoGear software uses statistical probabilities to help identify genetic mutations

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility.

26 Aug 2013

Shire extends existing partnership with Santaris Pharma in rare genetic disease space

Santaris Pharma A/S, a clinical-stage biopharmaceutical company focused on the discovery and development of RNA-targeted therapies, today announced that its long term partner, Shire has extended the existing partnership in the rare genetic disease space.

23 Aug 2013

People exposed to hot environments may develop Malignant hyperthermia

There is mounting evidence that some people who are susceptible to Malignant hyperthermia (MH) will develop MH when exposed to hot environments or with exercise.

22 Aug 2013

Walmart stores join together to help Cincinnati Children's battle epidermolysis bullosa disease

This year, 32 Tri-State Walmart stores are joining together to help Cincinnati Children's battle a rare, devastating disease: Epidermolysis Bullosa (EB).

21 Aug 2013

Genetic Disorder News and Research

Further Reading

One-time treatment slows onset and progression of ALS, study finds

International team of scientists discover new disease related to inability to process Vitamin B12

Study: Death risk is greatest for those who developed hypertrophic cardiomyopathy in childhood

UNC study to explore technology use in screening newborns for genetic conditions

UCLA researchers receives $13M Early Translational grants to advance innovative discoveries using stem cells

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

Drug for children with sickle cell anemia reduces hospitalizations and treatment costs

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Stem cell researchers receive Early Translational research awards from CIRM

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Malignant Hyperthermia Scientific Conference to be held at University of Toronto

Scientists develop complex human brain tissue in 3D culture system

URI professor studies rare hereditary disorder Fanconi anemia in children

TSRI scientists find way to use new DNA-editing technology for DNA sequencing

Study: Structural defect in skin cells can contribute to allergy development

Researchers discover additional cystic fibrosis-causing mutations

DeNovoGear software uses statistical probabilities to help identify genetic mutations

Shire extends existing partnership with Santaris Pharma in rare genetic disease space

People exposed to hot environments may develop Malignant hyperthermia

Walmart stores join together to help Cincinnati Children's battle epidermolysis bullosa disease

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