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.

Akonni receives NSF's Phase 2 SBIR Grant to develop Lab-on-a-Film microarray

Akonni Biosystems, a life science tools / molecular diagnostics company that develops, manufactures, and plans to market molecular testing devices for diagnosing infectious diseases and human genetic disorders, announced today the receipt of a $498,780 Phase 2 SBIR Grant from the National Science Foundation (NSF).

6 Sep 2012

Regular Fanconi anemia cells aren't sensitive to resveratrol

Fanconi anemia is a recessive genetic disorder affecting 1 in 350,000 babies, which leaves cells unable to repair damaged DNA. This lack of repair puts Fanconi anemia patients at high risk for developing a variety of cancers, especially leukemias and head and neck cancer.

5 Sep 2012

Gene therapy approach restores ability to smell in mouse model of congenital anosmia

Scientists funded by the National Institutes of Health have restored the ability to smell in a mouse model of a human genetic disorder that causes congenital anosmia-the inability to smell from birth. The approach uses gene therapy to regrow cilia, cell structures that are essential for olfactory function.

3 Sep 2012

Scientists restore sense of smell in mice through gene therapy

Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease.

3 Sep 2012

PD0325901 drug may hold potential to prevent neurofibromatosis 1 in children

A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests.

31 Aug 2012

Novartis receives FDA approval for Afinitor Disperz to treat subependymal giant cell astrocytoma

The U.S. Food and Drug Administration today approved Afinitor Disperz (everolimus tablets for oral suspension), a new pediatric dosage form of the anti-cancer drug Afinitor (everolimus) used to treat a rare brain tumor called subependymal giant cell astrocytoma.

30 Aug 2012

Researchers discover new genetic disease related to vitamin B12 deficiency

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body.

27 Aug 2012

Laminin-111 protein therapy could treat Duchenne muscular dystrophy

A novel treatment in development at the University of Nevada School of Medicine for the most common form of muscular dystrophy is advancing towards human trials with a $308,000 boost from the Muscular Dystrophy Association.

23 Aug 2012

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

The MitoTarget Project was a project funded by the European Commission, under their FP7 programme. It was funding for a call published in 2007.

21 Aug 2012

PPR proteins recognise RNA targets via easy-to-understand code

The code determines the recognition of RNA molecules by a superfamily of RNA-binding proteins called pentatricopeptide repeat (PPR) proteins.

20 Aug 2012

New DNA sequencing tests improve ability to analyze genetic disorders

Scientists at the University of Medicine and Dentistry of New Jersey-New Jersey Medical School (UMDNJ-NJMS) have developed new DNA sequencing tests that hold significant promise for decreasing costs associated with diagnosing cancer and hereditary diseases, including cysticfibrosis.

17 Aug 2012

TAIN project aims to optimise treatment for babies with adrenal insufficiency

Groundbreaking research into rare neonatal diseases, conducted by the University of Sheffield, is set to improve the treatment of babies who lack the stress hormone cortisol.

15 Aug 2012

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Johns Hopkins CIDR receives NIH contract to study genetic diseases

The Johns Hopkins Center for Inherited Disease Research (CIDR) program contract, which provides up to $101 million in research funding from the National Institutes of Health (NIH) to study the genetic contribution to human diseases, has been renewed for another five years.

13 Aug 2012

WSU researchers to test novel hypothesis that cardiolipin deficiency leads to disruption of TCA cycle

Barth Syndrome (BTHS) is a rare and serious genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder. Fifty percent of children born to a mother who is a carrier will inherit the defective gene, and all daughters born to an affected man will be carriers. BTHS is caused by a mutation in the tafazzin gene that results in decreased production of cardiolipin, an essential lipid for energy metabolism.

8 Aug 2012

TXNIP protein provides best available target for therapies against diabetes, Wolfram syndrome

Inflammation and cell stress play important roles in the death of insulin-secreting cells and are major factors in diabetes. Cell stress also plays a role in Wolfram syndrome, a rare, genetic disorder that afflicts children with many symptoms, including juvenile-onset diabetes.

8 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 2012