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.

Researchers find why patients with XPV are more susceptible to skin cancer

Researchers from Mount Sinai School of Medicine have found why patients with a variant form of xeroderma pigmentosum, an inherited genetic disorder characterized by extreme sensitivity to the sun, are more susceptible to skin cancers than the general population. The data are published in the current issue of the journal Nature. Their finding sets the stage for research into therapies that would help protect people with XPV from developing skin cancers.

24 Jun 2010

Teens to call upon Congress to fund drug research for rare diseases

Teens from across the United States whose siblings have cystic fibrosis will press their elected officials in Washington, D.C., June 24, to fund drug research and increase access to clinical trials for those with rare diseases.

22 Jun 2010

Beneficial effects of LifeVantage's Protandim on DMD mouse model published in Journal of Dietary Supplements

LifeVantage Corporation, the maker of Protandim®, a patented, science-based solution to oxidative stress, announced today that a peer-reviewed manuscript was published in the Journal of Dietary Supplements examining the beneficial effects of Protandim® on a mouse model of Duchenne Muscular Dystrophy (DMD), an X-linked inherited disease affecting one in 3,500 males.

22 Jun 2010

Children with special health care needs at increased risk of oral diseases

At the beginning of 2010, as many as 17 percent of children in the United States were reported as having special health care needs. Behavioral issues, developmental disorders, cognitive disorders, genetic disorders and systemic diseases may increase a child's risk of developing oral disease, according to an article published in the May/June 2010 issue of General Dentistry, the peer-reviewed clinical journal of the Academy of General Dentistry.

22 Jun 2010

ViroPharma provides update on recent progress in Cinryze manufacturing expansion activities

ViroPharma is increasing its Cinryze manufacturing capacity through two concurrent efforts. The first project, the parallel chromatography process, was implemented earlier this year and allows production to run across multiple shifts, effectively doubling the capacity of the current manufacturing line and increasing the amount of drug supply available to patients suffering from hereditary angioedema, or HAE.

21 Jun 2010

CureDuchenne kicks off national fundraiser Pick Your Peak

CureDuchenne, a national 501(c)3 dedicated to raising funds and awareness in the fight against Duchenne Muscular Dystrophy, is kicking off a national fundraiser Pick Your Peak. Outdoor enthusiasts, philanthropists, families of boys with DMD, and anyone excited to get out and climb for a cause will climb the peak of their choice on June 19-20, 2010.

19 Jun 2010

AdnaGen signs option agreement to license specific antibodies to KellBenx

AdnaGen AG, a subsidiary of OncoVista Innovative Therapies, Inc., a high-growth global biotech company developing proprietary, leading-edge early detection and drug technologies to enable safe, targeted personal cancer treatments, today announced that it has entered into an option agreement to license specific antibodies to KellBenx Inc., a New York-based private biotech firm.

19 Jun 2010

9th INT'L BIO FORUM & BIO EXPO JAPAN from June 30 - July 2, 2010

9th INT'L BIO FORUM & BIO EXPO JAPAN, organized by Reed Exhibitions Japan, will come back again as Asia's largest bio-event from June 30 - July 2, 2010. "Gene diagnosis" is one of the featured topics for this year.

18 Jun 2010

USPTO awards Alnylam Notice of Allowance for patent covering methods of inhibiting expression of mutant genes

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that the United States Patent and Trademark Office (USPTO) has awarded a Notice of Allowance for the "John et al." patent (Application No. 10/384,463), which covers methods of inhibiting mutant genes with double-stranded RNAs from 19 to 30 nucleotides in length.

18 Jun 2010

One in three people with psoriasis do not receive proper treatment due to health insurance issues: Survey

Results from a new survey reveal that one in three people with psoriasis do not receive proper treatment for their disease due to health insurance issues—and many won't be helped by the new health care reform law.

17 Jun 2010

ISB, GIND collaborate on whole-genome sequencing to identify drug targets for Huntington's Disease

The Institute for Systems Biology (ISB) of Seattle, WA, is collaborating with the Gladstone Institute of Neurological Disease (GIND) and its Taube-Koret Center for Huntington's Disease Research to use whole-genome sequencing to identify genes and novel drug targets related to the onset and progression of Huntington's disease (HD). The research team, led by GIND associate director and senior investigator Steven Finkbeiner, MD, PhD, will also use induced pluripotent stem (iPS) cells from patients with HD to screen for drugs that might delay, prevent, or even reverse this devastating condition.

16 Jun 2010

Alexion's Soliris may benefit patients with thrombotic microangiopathy from uncontrolled complement activation

Researchers reported today that Soliris® (eculizumab), a first-in-class terminal complement inhibitor developed by Alexion Pharmaceuticals, Inc., may provide clinical benefits to patients with thrombotic microangiopathy (TMA) resulting from uncontrolled complement activation. TMA, the formation of blood clots in capillaries and small arteries, can lead to life-threatening damage in multiple organs including kidney failure, thrombocytopenia (abnormally low platelet count) and anemia.

15 Jun 2010

New insight into sleeping sickness parasite

Fresh discoveries about the parasite that causes sleeping sickness could lead to new avenues of research into treatments for the disease.

15 Jun 2010

CLC-5 protein plays active part in inherited kidney disorder: Scientists

Scientists from the University of Leeds have discovered the mechanisms of a protein known to play an active part in the inherited kidney disorder, Dent's disease. The findings provide a new focus for future therapies for the disease, for which there is currently no cure.

15 Jun 2010

Ingen Technologies' new SMART Nasal Cannula unveiled at Alpha-1 19th National Education Conference

Ingen Technologies, Inc., a medical device manufacturer with an emerging new medical product line for the respiratory market worth an estimated $4 billion in the U.S. and $8 billion globally, unveiled their new SMART Nasal Cannula in Orlando-Florida last week at the Alpha-1 19th Annual National Education Conference.

14 Jun 2010

Researchers validate effectiveness of genome sequencing process for hereditary genetic diseases

A research team led by Dr. Nada Jabado at the MUHC Research Institute and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable exome sequencing method. The exome, a small part of the genome ((less than) 2%), is of crucial interest with regard to research on genetic diseases as it accounts for 85% of mutations.

10 Jun 2010

Researchers differentiate human stem cells to become heart cells with cardiomyopathy

Researchers at Mount Sinai School of Medicine have for the first time differentiated human stem cells to become heart cells with cardiomyopathy, a condition in which the heart muscle cells are abnormal. The discovery will allow scientists to learn how those heart cells become diseased and from there, they can begin developing drug therapies to stop the disease from occurring or progressing. The study is published in the June 9th issue of Nature.

10 Jun 2010

Novartis' Afinitor decreases size of SEGAs associated with tuberous sclerosis

Novartis Pharmaceuticals Corporation announced today that results from a Phase II study show Afinitor® (everolimus) tablets is the first medication in a clinical trial to decrease the size of subependymal giant cell astrocytomas (SEGAs), benign brain tumors associated with tuberous sclerosis (TS). In this study of 28 patients presented today at the 46th American Society of Clinical Oncology (ASCO) annual meeting in Chicago, 75% of patients experienced a reduction of 30% or greater in the size of their brain tumors from baseline to six months (p<0.001).

7 Jun 2010

Unsatisfactory interactions with physicians affect sickle cell disease patients' trust in medical profession

Faculty at the Johns Hopkins Berman Institute of Bioethics have published a study that shows, among adults with sickle cell disease, that unsatisfactory interactions with health-care providers in the past affect their trust in the medical profession more broadly.

5 Jun 2010

RTU announces phase 2 clinical trial results of UF-021 in patients with retinitis pigmentosa

Sucampo Pharmaceuticals, Inc. today confirmed that its partner, R-Tech Ueno, Ltd. reported the results of its recently completed phase 2 clinical trial of UF-021 in retinitis pigmentosa patients. The results showed improvement in visual function dose-dependently in both visual field test and subjective findings.

5 Jun 2010

Genetic Disorder News and Research

Further Reading

Researchers find why patients with XPV are more susceptible to skin cancer

Teens to call upon Congress to fund drug research for rare diseases

Beneficial effects of LifeVantage's Protandim on DMD mouse model published in Journal of Dietary Supplements

Children with special health care needs at increased risk of oral diseases

ViroPharma provides update on recent progress in Cinryze manufacturing expansion activities

CureDuchenne kicks off national fundraiser Pick Your Peak

AdnaGen signs option agreement to license specific antibodies to KellBenx

9th INT'L BIO FORUM & BIO EXPO JAPAN from June 30 - July 2, 2010

USPTO awards Alnylam Notice of Allowance for patent covering methods of inhibiting expression of mutant genes

One in three people with psoriasis do not receive proper treatment due to health insurance issues: Survey

ISB, GIND collaborate on whole-genome sequencing to identify drug targets for Huntington's Disease

Alexion's Soliris may benefit patients with thrombotic microangiopathy from uncontrolled complement activation

New insight into sleeping sickness parasite

CLC-5 protein plays active part in inherited kidney disorder: Scientists

Ingen Technologies' new SMART Nasal Cannula unveiled at Alpha-1 19th National Education Conference

Researchers validate effectiveness of genome sequencing process for hereditary genetic diseases

Researchers differentiate human stem cells to become heart cells with cardiomyopathy

Novartis' Afinitor decreases size of SEGAs associated with tuberous sclerosis

Unsatisfactory interactions with physicians affect sickle cell disease patients' trust in medical profession

RTU announces phase 2 clinical trial results of UF-021 in patients with retinitis pigmentosa

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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