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.

Available drugs may have a dramatic impact on children stricken with Tay-Sachs disease

A team of researchers has made a significant discovery which may have a dramatic impact on children stricken with Tay-Sachs disease, a degenerative and fatal neurological condition that often strikes in the early months of life.

7 Jun 2013

Changes in normal glycan behavior lead to fatal lysosomal disease, say researchers

From the neurons that enable thought to the keratinocytes that make toenails grow-a complex canopy of sugar molecules, commonly known as glycans, envelop every living cell in the human body.

6 Jun 2013

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy

Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients.

5 Jun 2013

OxThera granted Japanese patents for treating oxalate-related disease

OxThera AB has been granted three Japanese patents during 2012 and 2013. The patents will secure the pharmaceutical composition and the method for treating and preventing oxalate-related disease with micro-organisms and enzymes and will further strengthen the Company's patent estate for this unmet medical need.

4 Jun 2013

EMA grants Sucampo orphan drug designation for unoprostone isopropyl to treat retinitis pigmentosa

Sucampo Pharmaceuticals, Inc., a global biopharmaceutical company, today announced that it has received orphan drug designation in the European Union for unoprostone isopropyl for the treatment of retinitis pigmentosa (RP). RP is a genetic disease characterized by progressive, irreversible vision loss and decreasing visual acuity, and there are no drugs or therapeutic procedures currently approved for the treatment of RP today.

29 May 2013

Harmless genetic variations may team up to increase risk of schizophrenia, find researchers

Using a novel method of analyzing genetic variations in families, researchers at Johns Hopkins have found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia.

29 May 2013

Study could open up new possibilities for early diagnosis of motor disorders

The scientists report these findings in the current online edition of "The Lancet Neurology". This pan-European study could open up new possibilities of early diagnosis and smooth the way for treatments which tackle diseases before the patient's nervous system is irreparably damaged.

24 May 2013

A1-PI treatment slows progression of emphysema in patients with AATD

Treatment with an Alpha-1 proteinase inhibitor (A1-PI), a naturally occurring protein that protects lung tissue from breakdown and protects the lung's elasticity, is effective in slowing the progression of emphysema in patients with Alpha-1 antitrypsin deficiency (AATD), a life-threatening genetic disorder, according to a new study presented at the 2013 American Thoracic Society International Conference.

22 May 2013

Nutritional supplement improves functioning of genes involved in degenerative brain disorders

Widely available in pharmacies and health stores, phosphatidylserine is a natural food supplement produced from beef, oysters, and soy. Proven to improve cognition and slow memory loss, it's a popular treatment for older people experiencing memory impairment.

22 May 2013

Innovative X-ray method advances new treatments for genetic diseases

An international team of scientists using a new X-ray method recorded the internal structure and cell movement inside a living frog embryo in greater detail than ever before.

18 May 2013

Alnylam reports pre-clinical data from ALN-AS1 program for treatment of AIP

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented key pre-clinical proof-of-concept data from its RNAi therapeutic program targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of porphyria including acute intermittent porphyria.

18 May 2013

Great Strides: Walk for cystic fibrosis

Walks in nearly every state this weekend will raise funds to fight cystic fibrosis as part of Great Strides, the Cystic Fibrosis Foundation's largest national fundraising event.

18 May 2013

UCSF researchers create first functioning human thymus tissue from embryonic stem cells

Raising hopes for cell-based therapies, UC San Francisco researchers have created the first functioning human thymus tissue from embryonic stem cells, in the laboratory. The researchers showed that, in mice, the tissue can be used to foster the development of white blood cells the body needs to mount healthy immune responses and to prevent harmful autoimmune reactions.

17 May 2013

Illumina releases genomics cloud computing and storage platform

Illumina, Inc. today announced the full commercial availability of BaseSpace, the Company's genomics cloud computing and storage platform.

From Illumina, Inc. 16 May 2013

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Natera, a leading innovator in prenatal genetic testing, and Echevarne, a leading clinical analysis laboratory in Spain, today announced the signing of a distribution agreement for Echevarne to offer Natera's non-invasive prenatal screening test, Panorama, through its facilities in Spain.

From Natera 15 May 2013

New study reveals another duet played by Notch and BMP signals

A small ensemble of musicians can produce an infinite number of melodies, harmonies and rhythms. So too, do a handful of workhorse signaling pathways that interact to construct multiple structures that comprise the vertebrate body.

15 May 2013

Disease-in-a-dish models show promise for treating ataxia telangiectasia

Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia.

13 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

FDA approves Novartis' Ilaris for treatment of active systemic juvenile idiopathic arthritis

Novartis announced that the US Food and Drug Administration has approved Ilaris (canakinumab) for the treatment of active systemic juvenile idiopathic arthritis in patients aged 2 years and older.

10 May 2013

CGCF backs Canadian scientist's research on Spinal Muscular Atrophy

The Canadian Gene Cure Foundation, in partnership with the Canadian Institutes of Health Research through its Institute of Genetics, is pleased to announce the awarding of a $90,000 Champions of Genetics: Building the Next Generation Grant to Dr. Faraz Farooq, a Scientist at the Children Hospital of Eastern Ontario Research Institute.

9 May 2013

Genetic Disorder News and Research

Further Reading

Available drugs may have a dramatic impact on children stricken with Tay-Sachs disease

Changes in normal glycan behavior lead to fatal lysosomal disease, say researchers

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy

OxThera granted Japanese patents for treating oxalate-related disease

EMA grants Sucampo orphan drug designation for unoprostone isopropyl to treat retinitis pigmentosa

Harmless genetic variations may team up to increase risk of schizophrenia, find researchers

Study could open up new possibilities for early diagnosis of motor disorders

A1-PI treatment slows progression of emphysema in patients with AATD

Nutritional supplement improves functioning of genes involved in degenerative brain disorders

Innovative X-ray method advances new treatments for genetic diseases

Alnylam reports pre-clinical data from ALN-AS1 program for treatment of AIP

Great Strides: Walk for cystic fibrosis

UCSF researchers create first functioning human thymus tissue from embryonic stem cells

Illumina releases genomics cloud computing and storage platform

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

New study reveals another duet played by Notch and BMP signals

Disease-in-a-dish models show promise for treating ataxia telangiectasia

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

FDA approves Novartis' Ilaris for treatment of active systemic juvenile idiopathic arthritis

CGCF backs Canadian scientist's research on Spinal Muscular Atrophy

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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