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.

Scientists develop novel genetic model of premature aging disorders

Working with a group of national and international researchers, scientists from the Florida campus of The Scripps Research Institute have developed a new genetic model of premature aging disorders that could shed light on these rare conditions in humans and provide a novel platform for large-scale screening of compounds to combat these and other age-related diseases.

29 Apr 2011

GSN receives NIH grant for non-invasive prenatal test trial in genetic abnormalities

Gene Security Network announced today that they have received a $2 million grant from the National Institutes of Health to conduct a clinical trial applying Parental Support technology for non-invasive prenatal diagnosis.

28 Apr 2011

Creative approach can tackle bacterial infections in patients with cystic fibrosis

An over-the-counter drug used to treat diarrhea combined with minocycline, an antibiotic used to treat bacterial infections, could one day change the lives of those living with cystic fibrosis.

25 Apr 2011

Transplanting cells from healthy adult livers may help treat genetic liver-lung disorder

Transplanting cells from healthy adult livers may work in treating a genetic liver-lung disorder that affects millions of people worldwide, according to an animal study in the April 18 online edition of the Journal of Clinical Investigation.

22 Apr 2011

Jeffrey Modell Foundation opens new center for primary immunodeficiency

The Jeffrey Modell Foundation today announced the opening of a new center at Johns Hopkins Children's Center dedicated to the early diagnosis and appropriate treatment of children with primary immunodeficiency, a group of potentially fatal conditions in which the immune system malfunctions or is missing.

22 Apr 2011

Penn researchers explore the role of telomere caps in human aging

Researchers at the University of Pennsylvania School of Medicine are delving into the details of the complex structure at the ends of chromosomes.

21 Apr 2011

bluebird bio announces receipt of additional $30 million in financing

bluebird bio, an emerging leader in the development of innovative gene therapies for severe genetic disorders, today announced that the company has secured an additional $30 million in financing.

20 Apr 2011

Exacerbate-reverse' approach can identify potential therapy for fatal childhood disease

Many genes that cause human diseases have parallel genes in other organisms, including yeast. Now Columbia University researchers have used an innovative yeast-based screening method to identify a possible treatment for the fatal childhood disease Niemann-Pick C.

19 Apr 2011

Scientists discover new clues about mechanism behind losartan drug's protective effects

The Johns Hopkins researchers who first showed that the commonly used blood pressure drug losartan may help prevent life-threatening aneurysms of the aorta in patients with Marfan syndrome have now discovered new clues about the precise mechanism behind the drug's protective effects.

16 Apr 2011

Eli Lilly receives FDA complete response letter for liprotamase NDA

Eli Lilly and Company has received a complete response letter from the U.S. Food and Drug Administration for its New Drug Application for liprotamase, a non-porcine pancreatic enzyme replacement therapy, under investigation for the treatment of exocrine pancreatic insufficiency.

16 Apr 2011

Proteins could lead to new therapeutic target for NF2: Wistar Institute researchers

The proteins that provide cells with a sense of personal space could lead to a therapeutic target for Neurofibromatosis Type 2, an inherited cancer disorder, according to researchers at The Wistar Institute. Their findings, which appear in the April 12 issue of the journal Cancer Cell, could have profound implications for NF2 and related cancers, such as mesothelioma.

16 Apr 2011

Cytonet initiates clinical trial using liver cell infusion to treat urea cycle disorders in children

International biotechnology firm Cytonet recently launched the first ever clinical trial in the United States using an investigational liver cell infusion to treat urea cycle disorders (UCD) in children. The first patient in the Phase II trial, which will seek to enroll 20 patients in 12 medical centers, is a child with citrullinemia, which is a hereditary UCD. He received six liver cell infusions on six consecutive days at Yale School of Medicine in New Haven, Conn.

15 Apr 2011

New treatment improves immune function in 13-year-old with Wiskott-Aldrich syndrome

In a novel approach that works around the gene defect in Wiskott-Aldrich syndrome, an inherited immune deficiency disorder, researchers used an alternative cell signaling pathway to significantly improve immune function in a 13-year-old boy with the disease.

15 Apr 2011

Insight into neurodegenerative diseases

For years, researchers in genome stability have observed that several neurodegenerative diseases-including Huntington's disease-are associated with cell-killing proteins that are created during expansion of a CAG/CTG trinucleotide repeat.

12 Apr 2011

Immunization does not increase emergency room visit in children with inherited disorders

Children with inborn errors of metabolism received vaccines on the same immunization schedule as did healthy infants, according to Kaiser Permanente Vaccine Study Center scientists who examined the Kaiser Permanente Northern California population. In addition, immunization was not associated with significant increases in emergency room visits or hospitalizations during the month following vaccination, according to Nicola Klein, MD, PhD, lead author of the study and co-director of the Kaiser Permanente Vaccine Study Center.

11 Apr 2011

Hope4Cancer offers gentle non-invasive therapies for patients with brain tumor

Linda Roberts was puzzled when her favorite food, chocolate ice cream, suddenly did not taste good, and her prized orchids didn't smell nice either. When she began having sudden, severe headaches, she mentioned the changes in taste and smell to her doctor. After several tests, Roberts was diagnosed with a glioblastoma multiforme, the most aggressive form of brain tumor.

8 Apr 2011

Pregnancy and pre-pregnancy genetic tests approved for all

According to a government’s advisory body on genetics, genetic tests for conditions that can be passed on to future generations should be more widely available before pregnancy. There are “no specific social, ethical or legal principles” against preconception screening, a Human Genetics Commission report has ruled. It said testing should be available to any couples who may benefit from it. The UK National Screening Committee will now consider the findings.

7 Apr 2011

Zacharon, Pfizer enter research collaboration to develop drugs for orphan diseases

Zacharon Pharmaceuticals, Inc. today announced that the company has entered into a strategic research collaboration with Pfizer Inc. to develop drugs for orphan diseases, including lysosomal storage disorders. The potential value of the collaboration to Zacharon is approximately USD $210 million. The collaboration includes the potential development of compounds that may be discovered using Zacharon's innovative platform for developing small molecule drugs targeting specific carbohydrate polymers or glycans.

7 Apr 2011

Vismodegib is an effective treatment for patients with basal cell carcinomas

A new drug is effective in preventing new basal cell carcinomas in patients with an inherited predisposition to the disease.

7 Apr 2011

Ubiquitine D gene may be linked to celiac disease

Celiac disease (CD) involves intolerance to gluten and, consequently, suffering chronic illness in the small intestine. It is a genetic disorder, the immunological indications of which can be traced in the human body prior to the everyday activities of future sufferers being affected. For example, persons with genetic antecedents for CD develop antibodies against the gene tTG (the enzyme known as tissue transglutaminase), even before the illness becomes active, due to a cell reaction against gluten.

5 Apr 2011

Genetic Disorder News and Research

Further Reading

Scientists develop novel genetic model of premature aging disorders

GSN receives NIH grant for non-invasive prenatal test trial in genetic abnormalities

Creative approach can tackle bacterial infections in patients with cystic fibrosis

Transplanting cells from healthy adult livers may help treat genetic liver-lung disorder

Jeffrey Modell Foundation opens new center for primary immunodeficiency

Penn researchers explore the role of telomere caps in human aging

bluebird bio announces receipt of additional $30 million in financing

Exacerbate-reverse' approach can identify potential therapy for fatal childhood disease

Scientists discover new clues about mechanism behind losartan drug's protective effects

Eli Lilly receives FDA complete response letter for liprotamase NDA

Proteins could lead to new therapeutic target for NF2: Wistar Institute researchers

Cytonet initiates clinical trial using liver cell infusion to treat urea cycle disorders in children

New treatment improves immune function in 13-year-old with Wiskott-Aldrich syndrome

Insight into neurodegenerative diseases

Immunization does not increase emergency room visit in children with inherited disorders

Hope4Cancer offers gentle non-invasive therapies for patients with brain tumor

Pregnancy and pre-pregnancy genetic tests approved for all

Zacharon, Pfizer enter research collaboration to develop drugs for orphan diseases

Vismodegib is an effective treatment for patients with basal cell carcinomas

Ubiquitine D gene may be linked to celiac 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

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