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.

Study suggests Fanconi Anemia and Bloom's Syndrome proteins may act in common DNA repair pathway

A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published by Cell Press in the December 24th issue of the journal Molecular Cell, may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.

28 Dec 2009

New project analyzes genetic sequence and variations of every gene expressed by 1,000 tumors

No two tumors are alike, but analyzing the genetics of cancers from different parts of the body may reveal surprising details useful for treatment and prevention.

22 Dec 2009

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

To identify the hemophilia mutation that affected Queen Victoria and her European relatives, scientific detectives used a cutting-edge "deep sequencing tool." Able to trace rare genetic disease mutations, the tool can turn a single laboratory into a fertile genetic research center.

22 Dec 2009

PTC Therapeutics completes $50M financing

PTC Therapeutics, Inc. (PTC) today announced the completion of a $50 million financing. The round was led by The Column Group - a new investor - and existing investor Delphi Ventures. The co-lead investors were joined by current investors Credit Suisse First Boston, HBM BioVentures, Novo A/S, Celgene, and other existing and new investors. In conjunction with the Delphi investment, general partner Deepa Pakianathan, Ph.D. will join PTC's Board of Directors.

22 Dec 2009

BUSM researchers discover new gene therapy for treating emphysema patients

Researchers from Boston University School of Medicine (BUSM) have discovered a new gene therapy that may prevent the progression of emphysema. The study, which appears on-line in the Journal of Clinical Investigation, describes a method to express therapeutic genes in lung tissue for a lifetime after only a single treatment.

22 Dec 2009

CSC completes a Series B financing round

California Stem Cell, Inc. (CSC), a leading stem cell company, announced that it has completed a Series B financing round with private investors. The financing will enable the company to support the advancement of its therapeutic products to human clinical trials, as well as the generation and distribution of its tools to aid in stem cell research and drug discovery.

21 Dec 2009

Preliminary results from Phase III study of afamelanotide in EPP announced

Clinuvel Pharmaceuticals Limited today announced that it has obtained promising 4-months results in testing afamelanotide in a multicentre randomised double-blind placebo controlled Phase III study in EPP (CUV017).

21 Dec 2009

Advances in DNA-sequencing technology help identify your personal genome

What secrets about your risk for diseases are written in your own personal "Book of Life" - the 30,000 or so genes that make you you? Advances in DNA-sequencing technology are bringing closer the day when it will be more economical for consumers to get an answer to that question, and others, by ordering up the deciphering of their entire genetic endowment - their "personal genome."

17 Dec 2009

Mouse Hematology: A laboratory manual for scientists

A newly released set of compact and easy-to-use laboratory resources from Cold Spring Harbor Laboratory Press fills this gap. Mouse Hematology features step-by-step protocols for the preparation, enumeration, and microscopic examination of peripheral blood, bone marrow, and other hematopoietic tissues in the mouse

16 Dec 2009

Tel Aviv University researchers unravel the mysteries of DNA packaging

The RNA "spools" that make up DNA in our genes need careful editing, too. Genes are composed of meaningful sequences, called exons, separated by meaningless junk sections called introns.

15 Dec 2009

Researchers discover new explanation for differences in severity of mental illness in males

Researchers have discovered a new explanation for differences in the severity of mental illness in males. The more excess copies of a certain gene, the more serious the handicap. The genetic defect is situated on the X-chromosome; and it is suspected that it is the amount of copies of the GDI1 gene that is responsible.

11 Dec 2009

FDA Drugs Advisory Committee recommends approval for Gilead Sciences' aztreonam for inhalation solution

Gilead Sciences, Inc. today announced that the Anti-Infective Drugs Advisory Committee of the U.S. Food and Drug Administration (FDA) has recommended that aztreonam for inhalation solution be approved for the treatment of infections due to Pseudomonas aeruginosa (P. aeruginosa) in patients with cystic fibrosis (CF).

11 Dec 2009

EC grants orphan drug designation for MP4CO for treating sickle cell disease

Sangart, Inc., a global biopharmaceutical company dedicated to developing life-saving medicines specifically designed to enhance the perfusion and oxygenation of ischemic (oxygen deprived) tissues through targeted oxygen and other gas delivery, today announced that the European Commission (EC) has granted orphan medicinal product designation for MP4CO for the treatment of sickle cell disease.

10 Dec 2009

Protalix Biotherapeutics completes NDA submission for taliglucerase alfa

Protalix Biotherapeutics, Inc. today announced the completion of its New Drug Application (NDA) submission with the U.S. Food and Drug Administration (FDA) for taliglucerase alfa, a plant-cell expressed form of glucocerebrosidase (GCD) for the potential treatment of Gaucher’s disease.

9 Dec 2009

TECHGENE project: CLC bio selected as software partner

Today the EU project, TECHGENE, that focuses on developing Next Generation Sequencing (NGS) diagnostic tools for genetic disorders, announced that CLC bio has been selected as the software partner for this project.

9 Dec 2009

Hemaquest Pharmaceuticals' HQK-1001 holds promise for sickle cell disease and beta thalassemia

HemaQuest Pharmaceuticals presented data from new preclinical studies and early results from clinical trials of its lead drug candidate, HQK-1001, in sickle cell disease and beta thalassemia at the annual meeting of the American Society of Hematology in New Orleans.

8 Dec 2009

Cedars-Sinai Regenerative Medicine Institute supplies stem cells to aid Huntington's disease research

The Cedars-Sinai Regenerative Medicine Institute is to provide stem cells to a five-member National Institutes of Health consortium of researchers for development of potential therapies to treat Huntington's disease.

8 Dec 2009

RCT licensee Dyax receives approval from the FDA for KALBITOR

RCT licensee Dyax Corp. has received approval from the U.S. Food and Drug Administration for KALBITOR® (ecallantide) for the treatment of acute attacks of hereditary angioedema (HAE) in patients 16 years of age and older.

7 Dec 2009

New approach to protein misfolding may lead to novel therapies for a number of diseases

In an encouraging new development, a team led by Scripps Research Institute scientists has restored partial function to lung cells collected from patients with cystic fibrosis. While there is still much work to be done before the therapy can be tested in humans, the discovery opens the door to a new class of therapies for this and a host of other chronic diseases.

7 Dec 2009

New study reveals genetic alteration can lead to severe childhood obesity

Scientists in Cambridge have discovered that the loss of a key segment of DNA can lead to severe childhood obesity. This is the first study to show that this kind of genetic alteration can cause obesity. The results are published today in Nature.

6 Dec 2009

Genetic Disorder News and Research

Further Reading

Study suggests Fanconi Anemia and Bloom's Syndrome proteins may act in common DNA repair pathway

New project analyzes genetic sequence and variations of every gene expressed by 1,000 tumors

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

PTC Therapeutics completes $50M financing

BUSM researchers discover new gene therapy for treating emphysema patients

CSC completes a Series B financing round

Preliminary results from Phase III study of afamelanotide in EPP announced

Advances in DNA-sequencing technology help identify your personal genome

Mouse Hematology: A laboratory manual for scientists

Tel Aviv University researchers unravel the mysteries of DNA packaging

Researchers discover new explanation for differences in severity of mental illness in males

FDA Drugs Advisory Committee recommends approval for Gilead Sciences' aztreonam for inhalation solution

EC grants orphan drug designation for MP4CO for treating sickle cell disease

Protalix Biotherapeutics completes NDA submission for taliglucerase alfa

TECHGENE project: CLC bio selected as software partner

Hemaquest Pharmaceuticals' HQK-1001 holds promise for sickle cell disease and beta thalassemia

Cedars-Sinai Regenerative Medicine Institute supplies stem cells to aid Huntington's disease research

RCT licensee Dyax receives approval from the FDA for KALBITOR

New approach to protein misfolding may lead to novel therapies for a number of diseases

New study reveals genetic alteration can lead to severe childhood obesity

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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