Genetic disease treatments and pharmacogenetics: From scientific discovery to medical delivery Nov 15, 2008
The presentations included in this press briefing will report on: the results of a genome-wide association scan for genetic determinants of warfarin dosage, breakthrough research on a new treatment that has the potential to be the first successful therapy for Huntington's Disease, a long-term study on a successful enzyme replacement therapy for children with Type I Gaucher Disease, and new research findings that offer important new clues that will facilitate more precise and compartment-specific... (EurekAlert!)
SSA speeds benefits review for disability claims Oct 28, 2008
Among others on the list are inoperable forms of breast, bladder, kidney and bone cancer; Creutzfeldt-Jakob disease; Gaucher disease; and Rett Syndrome. At a public hearing on the program last spring, Dr. Edward Benz, president of the Dana-Farber Cancer Institute, said 1. (San Diego Union-Tribune -- Business)
Withdrawals hit Affiliated Managers Oct 23, 2008
The medicines are some of the world's costliest and include Cerezyme for Gaucher disease and Aldurazyme for a condition called MPS1. Both cost about $200,000 a year. (Boston Globe)
Ernest Beutler, 80, pioneer in bone marrow transplants Oct 11, 2008
Dr. Beutler was a pioneer in bone marrow transplantation for fighting cancer; made key discoveries about the role of the X chromosome in women; helped discover G6PD deficiency, the most common clinically significant enzyme deficiency of humans; improved the diagnosis and treatment of Gaucher disease; and developed cladribine, a treatment for leukemia and multiple sclerosis ... He isolated the gene that is defective in Gaucher disease - a severe disorder marked by the accumulation of a fatty... (Boston Globe)
President Bush Presents 2007 National Medals of Science and Technology and Innovation Oct 3, 2008
The 2007 National Medal of Technology and Innovation to Roscoe O. Brady, for his discovery of the enzymatic defects and hereditary metabolic disorders such as Gaucher disease, Neimann-Pick disease, Fabry disease and Tay-Sachs disease, devising widely used genetic counseling procedures and the development of highly effective enzyme replacement therapy that provided the foundation of patient treatment; and for stimulating the creation of and fostering the success of many biotechnology companies... (White House News Releases)
Stem cells from patients with genetic diseases Sep 7, 2008
Most of these diseases were Mendelian (single-gene) disorders, including Duchenne (DMD) and Becker muscular dystrophy (BMD), Huntington disease, Gaucher disease (GD) type III and adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID). In addition, cell lines were generated from individuals with the chromosomal disorder Down syndrome (trisomy 21) and the complex (multifactorial) conditions Parkinson disease and juvenile diabetes mellitus. (PHG Foundation)
A new weapon to fight cancer - tobacco? Aug 22, 2008
Avastin, a cancer drug made by South San Francisco-based Genentech, can cost up to $8,800 per month, and Genzyme's Cerezyme, which is used for Gaucher disease, costs about $200,000 a year. Experts say drug development increasingly is shifting from a one-size-fits-all approach. (AZCentral -- Business)
Babies die during clinical trials at AIIMS Aug 18, 2008
Gene-activated human glucocerebrosidase - for treating Gaucher disease that affects the liver. In reply to another query, AIIMS said that before conducting the trials, it had taken clearance from its own Ethics Committee, the Health Ministry Steering Committee (HMSC) on ethics and the National Ethics Committees of ICMR and DBT.. (Howrah News Service)
Disease-specific stem cells to boost research Aug 12, 2008
The full list of diseases represented: adenosine deaminase deciency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Cell, 2008. (Ars Technica)
Scientists Create Stem Cells For Diseases Aug 8, 2008
He expects stem cell lines to be developed for many more diseases, noting, "this is just the first wave of diseases." Other diseases for which they created stem cells are Type 1, or juvenile, diabetes; two types of muscular dystrophy, Gaucher disease and a rare genetic disorder known as the "bubble boy disease.". Daley stressed that the reprogrammed cells won't eliminate the need or value of studying embryonic stem cells. (CBS News)
For Italian Scientist, Tobacco Means Cleaner Air Jun 16, 2008
Tobacco's potential as a biofuel was discovered by accident while Fogher's team was working on other attributes of the plant for the treatment of Gaucher disease, a genetic disorder. Asked whether he consumed tobacco in a more usual way, Fogher said he did not smoke. (Planet Ark, United States)
TSA to screen all workers at Logan with field access May 8, 2008
Cambridge-based said its experimental pill for Gaucher disease curbed symptoms in a study. The new pill, designed to be a convenient alternative to Genzyme's Cerezyme drug, reduced spleen size and anemia in preliminary results from a one-year study of 26 adults. (Boston Globe)
Dose Response, Stem Cell Boom & Heparin Testing Mar 18, 2008
The costly drug Cerezyme, from Genzyme, is used to treat a rare inherited enzyme deficiency called Gaucher disease. Some think that most patients could do just as well taking one-quarter the standard dose, saving a bundle. (Wall Street Journal)
Some question $48m aid package for drug maker Shire's Lexington expansion Feb 14, 2008
The unit also has other experimental therapies in the works, including some to treat Gaucher disease. Todd Wallack can be reached at. (Boston Globe)
Third Cousins Have Most Offspring Feb 8, 2008
19, 2007) Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising. . (Science Daily)
Scripps scientists find calcium channel blockers help normalize lysosomal storage disease cells Feb 5, 2008
The research team found that the hypertension drugs diltiazem and verapamil increased the overall function of mutant lysosomal enzymes associated with the conditions Gaucher disease, -mannosidosis, and type IIIA mucopolysaccharidosis in patient-derived cell lines ... The most prevalent of these is Gaucher disease, which is the most common genetic disorder affecting Jewish people of Eastern European ancestry ... Patients with Gaucher disease may bruise easily due to low blood platelets, and... (EurekAlert!)
Genzyme 'bullish' on future growth Jan 9, 2008
Treatments for rare hereditary disorders, including Cerezyme for Gaucher disease and Myozyme for Pompe disease, bolstered revenue. Genzyme was expected to report $991 million in sales for the quarter and $3. (Boston Globe)
Drug industry may hit a wall Dec 7, 2007
So until Congress creates such a pathway, no generic threat will exist to the $4,400 a month that Genentech Inc. charges for its cancer drug Avastin, or the $200,000 a year that Genzyme Corp. gets for Cerezyme to treat Gaucher disease. And biotechnology products tend to target specialized areas of medicine that don't require mass advertising or armies of salespeople. (AZCentral -- Business)
Top Scientists to Receive Prestigious Awards From the American Society of Hematology Dec 6, 2007
He also developed screening tests for the genetic disorders galactosemia and Gaucher disease. He is currently Professor and Chairman, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA. Dr. Beutler's award will be presented prior to the Plenary Scientific Session on Sunday, December 9, at 1:30 p.m. EST in Hall A1. (PR Newswire)
Gene tests alarm Down syndrome families Nov 25, 2007
A recent study of couples that were screened for Gaucher disease crystallized the ethical dilemma over genetic disease. Gaucher is a genetic-based enzyme deficiency. (AZCentral -- News)
Amicus Therapeutics to Present at the Lazard Capital Markets Fourth Annual Healthcare Conference Nov 21, 2007
Amicus has two product candidates in Phase II clinical trials, Amigal(TM) for the treatment of Fabry disease and Plicera(TM) for the treatment of Gaucher disease. The Company announced positive data from Phase I clinical trials of AT2220 for the treatment of Pompe disease in October 2007. (PR Newswire)
Actelion Ltd: Miglustat (Zavesca) Receives Negative Opinion From the European Committee For Medicinal Products For Human Use For Extension of Indication For Niemann Pick Type C Oct 19, 2007
About Zavesca(r) (100 mg miglustat) and type 1 Gaucher disease. Zavesca(r) (100 mg miglustat) is indicated for the oral treatment of mild to moderate type 1 Gaucher Disease. (Primezone Releases)
One Shot Of Gene Therapy Spreads Through Brain In Animal Study Oct 11, 2007
In some types of the lysosomal storage disorder Gaucher disease, physicians can supply the missing enzyme to patients and successfully relieve disease symptoms. However, for Sly syndrome and most other lysosomal storage diseases, enzyme replacement, when available, is not very effective in treating the brain component of the disease. (Science Daily)
Protalix BioTherapeutics Announces Public Offering of Common Stock Oct 8, 2007
Protalix has initiated enrollment and treatment of patients in its pivotal phase III clinical trial of its lead product candidate, prGCD, for enzyme replacement therapy of Gaucher disease, a lysosomal storage disorder in humans. The final design of the pivotal phase III clinical trial is based on an agreement reached by Protalix with the United States Food and Drug Administration, through its Special Protocol Assessment (SPA). (PR Newswire)
Geneticists question screening of fetuses Sep 21, 2007
The study, in this week's Journal of the American Medical Association, found that one-quarter of couples chose to terminate pregnancies after their fetus screened positive for Gaucher disease ... And in the case of Gaucher disease and other genetic syndromes, such as hereditary hemochromatosis, people may test positive but that doesn't necessarily mean they'll get the disease ... Screening for Gaucher disease is being offered in Canada, usually to those who have a family history of the disease... (Globe and Mail)
Genetic Screening Questioned for Gaucher Disease Sep 20, 2007
JERUSALEM, Sept. 19 -- A broad screening program to identify carriers of Gaucher Disease among Asheknazi Jews may not meet intended goals, Israeli researchers reported ... Explain to interested patients that, although it's seen with some frequency among Ashkenazi Jews, Gaucher Disease, caused by an enzyme deficiency, is most often mild and relatively treatable ... Yet, they noted in the Sept. 19 issue of the Journal of the American Medical Association, screening for Gaucher disease an autosomal... (MedPage Today)
Scientists question some prenatal testing Sep 19, 2007
Levy-Lahad's team used data from 10 Israeli genetic centers on people screened for Gaucher disease, an inherited condition which can be effectively treated, and they interviewed couples by telephone ... Writing in the Journal of the American Medical Association, the researchers said genetic tests showed that 16 of 68 participating couples had a fetus with type 1 Gaucher disease, the mildest form, Levy-Lahad said ... Gaucher disease is caused by a defective gene that prevents the body from... (MSNBC -- Health)
Gene Mutation Linked to Parkinson's Disease Sep 19, 2007
Mutations of this gene have already been identified as the cause of Gaucher disease, a rare fat-storage disorder that disrupts spleen and brain function. Gaucher's and Parkinson's have some links, the study authors noted. (MEDLINEplus)
Study Questions Genetic Screening for Treatable Diseases Sep 19, 2007
TUESDAY, Sept. 18 (HealthDay News) -- Some Israeli couples with fetuses that tested positive for Gaucher disease, an inherited condition that can range from mild and treatable to severe, chose abortions, raising questions about the use of certain types of genetic screenings, a new study suggests ... Gaucher disease (GD) includes three diseases caused by deficient activity of a certain enzyme ... Common type 1 Gaucher disease often causes no symptoms and is usually not severe and can be treated,... (U.S. News & World Report)
Genetic Mutation Speeds Onset of Parkinson's Disease Sep 18, 2007
NEW YORK, Sept. 17 -- A genetic mutation known to cause Gaucher disease may also contribute to early onset of Parkinson's disease, particularly in patients with Jewish ancestry, researchers found ... Gaucher disease, a rare condition that impairs lysosomal lipid storage and can cause parkinsonism, "is one of the most common genetic diseases reported in the Ashkenazi Jewish population," they wrote. (MedPage Today)
Genzyme to begin $150m expansion of Allston plant Sep 15, 2007
It produces several drugs to treat rare diseases: Cerezyme for Gaucher disease, Fabrazyme for Fabry disease, and Myozyme for Pompe disease. The plant is also used to package two other products, Aldurazyme, which treats MPS I disease, a genetic disorder; and Thyrogen, a thyroid cancer drug. (Boston Globe)
Profit up, Genzyme boosts its forecast Jul 26, 2007
4 million on the strength of therapies for inherited conditions such as Cerezyme for Gaucher disease and Myozyme, Genzyme's newest drug, for Pompe disease. Chief executive Henri A. Termeer has made acquisitions to broaden the company's range of products and forecast compound earnings growth of 20 percent over the next five years. (Boston Globe -- Business)
Genzyme: Geared for Growth Jun 12, 2007
In its largest segment, Therapeutics, the company's lead product is Cerezyme, an enzyme replacement therapy (ERT) for Gaucher disease, a debilitating genetic disorder causing fatigue, anemia, and bone erosion ... As Cerezyme is a mature product, Genzyme is pursuing a next-generation oral therapy for Gaucher disease, which recently yielded positive initial Phase II results. (BusinessWeek)
Life Sciences 25 May 21, 2007
Genzyme said a pill to treat Gaucher disease showed promise in a clinical trial; regulators approved a combination of Millennium and J&J drugs to treat multiple myeloma. LAST. (Boston Globe)
Genzyme gets OK to resume testing of MS drug May 17, 2007
Doctors saw promising results in a small test of a new pill to treat Gaucher disease, a rare genetic disorder ... In five patients tested, Genzyme said, its experimental pill helped decrease the severe spleen swelling characteristic of Gaucher disease ... David Meeker , the Genyzme executive in charge of its rare-disease drugs, called the results on the new Gaucher disease pill "great.". (Boston Globe)
Brandeis and Brigham and Women's Hospital license technology for Gaucher's to Amicus Therapeutics Feb 23, 2007
Waltham, MABrandeis University and Brigham and Women's Hospital today agreed to grant a license option to Amicus Therapeutics for a jointly-developed novel pharmaceutical technology that could be instrumental in finding new treatments for Gaucher Disease ... In collaboration with scientists at Amicus Therapeutics, the inventors discovered that GCase, the protein that is mutated in Gaucher Disease, undergoes a structural change near its active site upon binding to a small molecule that is in... (EurekAlert! -- Business News)
Actelion Announces Full Year 2006 Financial Results Feb 22, 2007
Trials in both Type 3 Gaucher disease and Late-Onset Tay Sachs did not generate findings that would warrant further studies. Operating expenses reflect substantial efforts in both Marketing and R&D. (Primezone Releases)
Genzyme expects 2007 profit to rise on drug sales Jan 10, 2007
Sales of the company's biggest drug, Cerezyme, a treatment for Gaucher disease, which causes enlargement of the liver and spleen, rose 13 percent to $262 million. Sales of the company's kidney disease drug Renagel rose 22 percent to $135 million. (ABC News -- Wire)
