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.

Imaxio Sells Genomics Division To Hybrigenics

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16 Oct 2013

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

An international team of scientists-including researchers at GENYO, the Centre for Genomics and Oncological Research (Pfizer-University of Granada- Andalusian Regional Government)-has described a molecular mechanism that facilitates the defence of the human genome against "bombarding" by mobile DNA sequences.

10 Oct 2013

New smartphone app puts genetic information in the hands of people

Until now, understanding and using genetic information has depended on the scientists and doctors who do the testing. No longer.

9 Oct 2013

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

The recognition of a causal link between mutations in BRCA1 and BRCA2 genes and increased risk of developing breast and ovarian cancer has intensified the demand for genetic testing. Identifying mutations in these large genes by conventional methods can be time consuming and costly.

9 Oct 2013

Edimer doses first XLHED-affected neonate in Phase 2 trial of EDI200

Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced the enrollment and completed dosing of the first XLHED-affected neonate in a Phase 2 trial of EDI200, the company's novel, proprietary, recombinant protein.

9 Oct 2013

Alnylam advances Development Candidate for ALN-AS1 for treatment of hepatic porphyrias

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), a leading RNAi therapeutics company, announced today that it is advancing its Development Candidate for ALN-AS1, an RNAi therapeutic targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of hepatic porphyrias including acute intermittent porphyria (AIP).

9 Oct 2013

GSK Adds Another Program To Isis Antisense Collab

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7 Oct 2013

Study identifies new potential genetic culprits in origins of congenital heart defects

Mitochondria are the power plants of cells, manufacturing chemical fuel so a cell can perform its many tasks. These cellular power plants also are well known for their role in ridding the body of old or damaged cells.

5 Oct 2013

Whitehead Institute researchers redefine gene mutation that cause Rett syndrome

Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found in the neurons of Rett syndrome patients and could lead to novel therapies for the disease.

4 Oct 2013

Scientists discover two new compounds that could help treat CF patients having common mutation

Cystic fibrosis is a lethal genetic disorder that in France affects one child per 4,500 births. An international team led by scientists at the Institut Fédératif de Recherche Necker-Enfants Malades (CNRS/Inserm/Université Paris Descartes), led by Aleksander Edelman, has recently discovered two new compounds that could be used to treat patients carrying the most common mutation.

30 Sep 2013

Researchers to use state-of-the-art brain imaging to study mucopolysaccharidosis

A team of researchers will use state-of-the-art brain imaging to unlock the secrets of a genetic disease, mucopolysaccharidosis, in a landmark study the team hope will lead to new treatments for this devastating disease.

27 Sep 2013

Lumena Pharmaceuticals initiates LUM001 clinical program in children with ALGS

Lumena Pharmaceuticals, a company developing oral therapeutics for rare liver diseases, today announced the initiation of a global clinical program to evaluate its drug candidate LUM001 in children with Alagille syndrome. The first patient has been dosed in the IMAGO Phase II study being conducted in the U.K., and enrollment of pediatric patients is expected to begin later this year in the ITCH Phase II study in the U.S.

26 Sep 2013

Research finds greater number of 'escaping genes' on X chromosome

Research from the University of Bath has found a greater number of 'escaping genes' on the X chromosome than have been previously detected, with implications for the understanding of mental impairment in humans.

26 Sep 2013

Stem cell lines are ideal research tools for designing models to understand disease progression

Scientists from King's College London have announced that 16 human embryonic stem (hES) cell lines have been approved by the US National Institutes of Health (NIH) and placed on their Stem Cell Registry, making them freely available for federally-funded research in the USA.

25 Sep 2013

New diagnostic criteria for TSC appear in recent online issue of Pediatric Neurology

A paper detailing new diagnostic criteria for tuberous sclerosis complex (TSC) appears in the most recent online issue of Pediatric Neurology. The author is Hope Northrup, M.D., professor of pediatrics at The University of Texas Health Science Center at Houston (UTHealth).

24 Sep 2013

arGEN-X and Shire achieve milestone in SIMPLE Antibody R&D collaboration

arGEN-X, a clinical stage human monoclonal antibody therapeutics company, announces it has attained a key success milestone in its SIMPLE Antibody research and product development collaboration with the Human Genetic Therapies division of Shire Pharmaceuticals. The milestone, which triggered an undisclosed payment from Shire, was the first demonstration of in vivo proof of concept for one of the antibody discovery programs undertaken in the collaboration.

19 Sep 2013

Children with 22q11.2 deletion syndrome may often be misdiagnosed to have autism

Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests.

18 Sep 2013

Four new pre-clinical drug development projects at NIH develop treatment for rare disease

Four new pre-clinical drug development projects at the National Institutes of Health will target a form of blindness and diseases characterized by cardiac problems. The projects were selected for their potential to treat specific rare diseases and to help scientists uncover new information that can be shared with other researchers.

13 Sep 2013

Hydroxyurea treatment prevents complications, lowers medical care costs in children sickle cell disease

The benefits of hydroxyurea treatment in people with sickle cell disease are well known -- fewer painful episodes, fewer blood transfusions and fewer hospitalizations. Now new research from the Johns Hopkins Children's Center and other institutions reveals that by preventing such complications, the drug can also considerably lower the overall cost of medical care in children with this condition.

12 Sep 2013

Researchers study potential role of two risk factors in preeclampsia

Although preeclampsia occurs in about 3 percent of pregnancies, it's still unforeseen in many cases. A report of new research, now in press at the Journal of Reproductive Immunology, documents how two distinct risk factors combine to affect the odds that a first-time mother could develop the sometimes life-threatening pregnancy complication.

11 Sep 2013

Genetic Disorder News and Research

Further Reading

Imaxio Sells Genomics Division To Hybrigenics

Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

New smartphone app puts genetic information in the hands of people

Next-generation sequencing technology effective for detecting BRCA1 and BRCA2 mutations

Edimer doses first XLHED-affected neonate in Phase 2 trial of EDI200

Alnylam advances Development Candidate for ALN-AS1 for treatment of hepatic porphyrias

GSK Adds Another Program To Isis Antisense Collab

Study identifies new potential genetic culprits in origins of congenital heart defects

Whitehead Institute researchers redefine gene mutation that cause Rett syndrome

Scientists discover two new compounds that could help treat CF patients having common mutation

Researchers to use state-of-the-art brain imaging to study mucopolysaccharidosis

Lumena Pharmaceuticals initiates LUM001 clinical program in children with ALGS

Research finds greater number of 'escaping genes' on X chromosome

Stem cell lines are ideal research tools for designing models to understand disease progression

New diagnostic criteria for TSC appear in recent online issue of Pediatric Neurology

arGEN-X and Shire achieve milestone in SIMPLE Antibody R&D collaboration

Children with 22q11.2 deletion syndrome may often be misdiagnosed to have autism

Four new pre-clinical drug development projects at NIH develop treatment for rare disease

Hydroxyurea treatment prevents complications, lowers medical care costs in children sickle cell disease

Researchers study potential role of two risk factors in preeclampsia

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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