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.

Sabril (vigabatrin) Oral Solution receives approval from FDA

Sabril (vigabatrin) Oral Solution has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages 1 month to 2 years. Sabril is the first drug in the United States approved to treat the disorder, characterized by a severe type of seizure that usually appears in the first year of life, typically between ages 4 months and 8 months.

26 Aug 2009

Mutations of gene regulators can result in growth disorders

A specific gene is particularly frequently involved in the development of short stature. Researchers in Heidelberg have now discovered that sequences of genetic material on the X and Y chromosome that regulate this gene are also crucial for growth in children.

26 Aug 2009

University of Idaho researchers to develop a chemical probe technology that can treat genetic diseases

Three University of Idaho researchers will embark on an unconventional approach to DNA research as one of 20 teams chosen nationwide by federal officials for the ideas to explore scientific frontiers.

26 Aug 2009

Shire collaborates with Santaris Pharma to develop Locked Nucleic Acid technology

Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announces today that it has entered into a research-based collaboration with Santaris Pharma A/S, a leading player in RNA-based therapeutics, to develop its proprietary Locked Nucleic Acid (LNA) technology in a range of rare diseases, thereby enabling Shire to build on its already strong competitive position for its Human Genetic Therapies (HGT) business.

25 Aug 2009

Santaris Pharma to discover and develop new RNA-based medicines for treating rare genetic disorders

Santaris Pharma A/S, a privately-held biopharmaceutical company focused on developing RNA-based drugs targeted to disease-related mRNAs and microRNAs, today announced a multi-year worldwide strategic alliance with Shire plc to discover and develop new RNA-based medicines to treat rare genetic disorders.

24 Aug 2009

Researchers identify causative gene for features of 2q32q33 microdeletion syndrome

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24 Aug 2009

e-infrastructure to tackle diseases

Disease knows no borders and now researchers in Europe and the Mediterranean shoreline are using electronic infrastructures (e-Infrastructures) to coordinate and cooperate internationally.

19 Aug 2009

Promising new treatment target for Kennedy's disease

New research with transgenic mice reveals that a therapy directed at the muscle significantly improves disease symptoms of a genetic disorder characterized by destruction of the neurons that control movement. The study, published by Cell Press in the August 13th issue of the journal Neuron, highlights a promising new treatment for this currently incurable and nontreatable neurodegenerative disorder.

12 Aug 2009

Massage therapy eases sickle cell disease pain in children

Massage offers both physical and psychological benefits and is used at Nationwide Children’s Hospital in many areas including Rehabilitation, Physical Medicine and in patients who have received organ transplants, just to name a few. Researchers at Nationwide Children’s recently published a study in the Journal of Pediatric Psychology that revealed the benefits of massage in reducing pain, anxiety and depression in children with Sickle Cell Disease.

12 Aug 2009

Febit's DNA-capture method selected by NCGR to re-sequence 400 genes involved in childhood diseases

The National Center for Genome Resources (NCGR) has selected febit's DNA-capture method, HybSelect, to re-sequence the exons of genes involved in over 400 of the most devastating childhood diseases with the ultimate goal of developing genetic tests to detect carrier status for recessive genetic diseases in prospective parents.

11 Aug 2009

Detection is the key to preventing the sudden death of young athletes

Few things stun a community more than when a seemingly healthy high school or collegiate athlete suddenly dies during practice or in competition from a hidden heart disorder.

11 Aug 2009

Changes in mtDNA can cause premature ageing

The normal ageing process has long been linked to problems with cell respiration, the process through which the cells extract energy from nutrients. Researchers at the Swedish medical university Karolinska Institutet have now shown how certain proteins that are synthesised in the cellular mitochondria - popularly known as the cells' power plants - become unstable and disintegrate, which in turn can impair cell respiration and cause premature ageing.

7 Aug 2009

Complex, eight-hour open procedure removes life-threatening blood clots from 17-year-old's lungs

After visiting the emergency room with fainting spells and shortness of breath, a 17-year-old Morningside Heights boy was diagnosed with rare, life-threatening blood clots blocking his pulmonary arteries. To address the problem, surgeons at NewYork-Presbyterian Hospital Morgan Stanley Children's Hospital successfully performed a pulmonary thromboendartectomy (PTE) surgery -- reportedly, the first time it has been performed on a child in the New York City area.

6 Aug 2009

Unstable proteins can cause premature ageing

The normal ageing process has long been linked to problems with cell respiration, the process through which the cells extract energy from nutrients.

6 Aug 2009

Aradigm receives orphan drug designation for inhaled liposomal ciprofloxacin to treat cystic fibrosis in Europe

Aradigm Corporation (OTCBB:ARDM) has announced that the European Medicines Agency (EMEA) granted Orphan Drug Designation to the Company’s inhaled liposomal ciprofloxacin drug product candidate for the treatment of lung infections associated with cystic fibrosis (“CF”).

6 Aug 2009

Research looks at enzyme that causes genetic diseases

Researchers from CIC bioGUNE's Structural Biology Unit and Columbia University (New York) have conducted a joint research project, published in the prestigious scientific journal Structure, to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution (in the "natural" state).

5 Aug 2009

New insight into human ciliopathy

In the September 1st issue of G&D, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.

4 Aug 2009

Flaw in bone's material leads to disease

The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino acid in the chain of thousands of amino acids making up a collagen molecule, the basic building block of bone and tendon.

4 Aug 2009

Scientists re-engineer human enzyme to become resistant to harmful agents such as chemotherapy

Scientists from the Université de Montréal and McGill University have re-engineered a human enzyme, a protein that accelerates chemical reactions within the human body, to become highly resistant to harmful agents such as chemotherapy, according to a new study published in The Journal of Biological Chemistry.

28 Jul 2009

Analysis suggests human development is set by ongoing interplay of parent and offspring genes

An analysis of rare genetic disorders in which children lack some genes from one parent suggests that maternal and paternal genes engage in a subtle tug-of-war well into childhood, and possibly as late as the onset of puberty.

28 Jul 2009

Genetic Disorder News and Research

Further Reading

Sabril (vigabatrin) Oral Solution receives approval from FDA

Mutations of gene regulators can result in growth disorders

University of Idaho researchers to develop a chemical probe technology that can treat genetic diseases

Shire collaborates with Santaris Pharma to develop Locked Nucleic Acid technology

Santaris Pharma to discover and develop new RNA-based medicines for treating rare genetic disorders

Researchers identify causative gene for features of 2q32q33 microdeletion syndrome

e-infrastructure to tackle diseases

Promising new treatment target for Kennedy's disease

Massage therapy eases sickle cell disease pain in children

Febit's DNA-capture method selected by NCGR to re-sequence 400 genes involved in childhood diseases

Detection is the key to preventing the sudden death of young athletes

Changes in mtDNA can cause premature ageing

Complex, eight-hour open procedure removes life-threatening blood clots from 17-year-old's lungs

Unstable proteins can cause premature ageing

Aradigm receives orphan drug designation for inhaled liposomal ciprofloxacin to treat cystic fibrosis in Europe

Research looks at enzyme that causes genetic diseases

New insight into human ciliopathy

Flaw in bone's material leads to disease

Scientists re-engineer human enzyme to become resistant to harmful agents such as chemotherapy

Analysis suggests human development is set by ongoing interplay of parent and offspring genes

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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