( Wellcome Trust ) A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment.
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Genetic variant increases risk of common type stroke
Julia Horowitz, a 16-year-old sophomore at Watchung Hills Regional High School, embarked on a mini-internship to learn about herself
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Morristown fertility clinic helps teen with genetic defect unravel mysteries of her own DNA
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Celexa or Lexapro – Video
SAN DIEGO, Feb. 2, 2012 /PRNewswire/ — Sequenom, Inc. (NASDAQ: SQNM – News), a life sciences company providing innovative genetic analysis solutions, today announced that a new publication of an independent …
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Study Published In Genetics In Medicine Demonstrates Sequenom CMM MaterniT21 Test Accurately Detects Two Additional …
26-01-2012 09:21 Jared Taylor, editor of American Renaissance, explains the biological basis of race. Sources: Weiss, Rick, and Justin Gillis. “Teams Finish Mapping Human DNA.” Washington Post 27 June 2000: A1. Print. Edwards, AWF “Human Genetic Diversity: Lewontin’s Fallacy.” BioEssays 25.8 (2003): 798-801. Web. www.goodrumj.com Lewontin, Richard C. “The Apportionment of Human Diversity.” Evolutionary Biology 6 (1972): 391-98. Print. Risch, Niel J. et al. “Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies.” American Journal of Human Genetics 76.2 (2005): 268-75. Web. www.ncbi.nlm.nih.gov Ousley, Stephen D. “Understanding Race and Human Variation: Why Forensic Anthropologists Are Good at Identifying Race.” American Journal of Physical Anthropology 139 (2009): 68-76. Web. onlinelibrary.wiley.com Sauer, Norman J. “Forensic Anthropology and the Concept of Race: If Races Don’t Exist, Why Are Forensic Anthropologists So Good at Identifying Them?” Social Science Medicine 34.2 (1992): 107-11. Print. Norton, Cherry. “Hidden Black Ancestry Linked to Rise in Sickle Cell Blood Disorder.” Independent. 23 Oct. 1999. Web. www.independent.co.uk Motulsky, Arno G. “Frequency of Sickling Disorders in US Blacks.” New England Journal of Medicine 288 (1973): 31-33. Print. “Hemochromatosis.” PubMed Health. 12 Apr. 2010. Web. www.ncbi.nlm.nih.gov Parker, Heidi G et al. “Genetic Structure of the Purebred Domestic Dog.” Science 304 (2004): 1160-164. Print …
23-12-2011 02:33 KXAN Medical Minute — Texas Oncology www.texasoncology.com
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Medical advice from Dr. Sandbach – Genetic Testing – Video
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According to a study published in the online version of the journal The Oncologist, a genetic variation that increases the risk of individuals who take bisphosphonates, developing serious necrotic jaw bone lesions, has been identified by researchers at the Columbia University College of Dental Medicine.
Bisphosphonates are a common class of osteoclastic inhibitors that work by attaching to calcium in the bone and inhibiting osteoclasts, bone cells that disintegrate the bone's mineral structure. The finding opens the door for a genetic screening test to determine which individuals can take these medications safely.
At present, approximately 3 million women in the U.S. take oral bisphosphonates for the treatment or prevention of osteoporosis. Furthermore, each year, thousands of cancer patients are given intravenous bisphosphonates to prevent excess calcium (hypercalcemia) from gathering in the blood and to control the spread of bone cancer.
Lead researcher of the study, Athanasios I. Zavras, DMD, MS,DMSc, associate professor of Dentistry and Epidemiology and Director of the Division of Oral Epidemiology & Biostatistics at the Columbia University College of Dental Medicine, explained:
“These drugs have been widely used for years and are generally considered safe and effective. But the popular literature and blogs are filled with stories of patients on prolonged bisphosphonate therapy who were trying to control osteoporosis or hypercalcemia only to develop osteonecrosis of the jaw.”
Often, osteonecrosis of the jaw (ONJ) results in painful and difficult-to-treat bone lesions, which can ultimately result in entire jaw loss. Among individuals taking bisphosphonates, ONJ usually occurs in those who go through invasive dental procedures or those with dental disease.
At present, figures on the incidence of ONJ in individuals taking oral bisphosphonates are unreliable. According to the American College of Rheumatology, estimates vary from 1 in 1,000 to 1 in 100,000 patients each year of exposure to the drug. Approximately 5% to 10% of cancer patients taking intravenous bisphosphonates are affected by ONJ.
According to prior investigations, genetic factors play a significant role in predisposing patients to ONJ. Dr. Zavras and his team conducted genome-wide examination of 30 individuals who have developed ONJ while taking bisphosponates and compared them with several disease free individuals who used bisphosphonates.
Results showed that individuals who has a small variation in the RBMS3 gene were 5.8 times more likely to develop ONJ than individuals without the variation. The researchers also identified small variations in two other genes that may contribute to ONJ risk – IGFBP7 and ABCC4.
Dr. Zavras, explained:
“Our ultimate goal is to develop a pharmacogenetic test that personalizes risk assessment for ONJ, a test that you could give to people before they start to use bisphosphonates.
Those who are positive for this genetic variation would select some other treatment, while those who are negative could take these medications with little fear of developing ONJ.”
Dr. Zavras, continued:
“At the moment, many women discontinue or avoid treatment for serious osteoporosis because they are afraid of losing their jaw bones. There even are reports of dentists who have refused to perform certain invasive procedures in patients taking bisphosphonates. So there is a great need for a pharmacogenetic screening test to determine which patients are really at risk for ONJ.”
The researchers explain that additional studies are required in order to determine if the RBMS3 gene variation is seen in other racial groups, as the current investigation only examined Caucasians.
The study was supported by the National Institute of Dental and Craniofacial Research.
Written by Grace Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today
Visit our genetics section for the latest news on this subject. “Genomewide Pharmacogenetics of Bisphosphonate-Induced Osteonecrosis of the Jaw: The Role of RBMS3” Paola Nicoletti et al.
The Oncologist, First Published Online January 20, 2012; doi: 10.1634/theoncologist.2011-0202
Source: Columbia University Medical Center
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Osteoporosis Drug Complications Linked To Genetic Factors
02-11-2011 12:51 Selena shares her family’s experience with Lynch syndrome. This workshop is part of a genomics curriculum for practicing healthcare providers developed by the Genomic Medicine Institute at El Camino Hospital, Genetic Alliance, and the National Coalition for Health Professional Education in Genetics. This workshop, the second in a 10-part series, covered genetic-testing technology; selecting appropriate genetic tests; ordering tests; pre- and post-test counseling; test costs; interpreting test results.
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Workshop 2: Fundamentals of Genetic Testing Part I – Selena Martinez – Video
ScienceDaily (Jan. 31, 2012) — A report from investigators at the Massachusetts General Hospital (MGH) Cancer Center has defined the role of a recently identified gene abnormality in a deadly form of lung cancer. Tumors driven by rearrangements in the ROS1 gene represent 1 to 2 percent of non-small-cell lung cancers (NSCLC), the leading cause of cancer death in the U.S. The researchers show that ROS1-driven tumors can be treated with crizotinib, which also inhibits the growth of tumors driven by an oncogene called ALK, and describe the remarkable response of one patient to crizotinib treatment.
“ROS1 encodes a protein that is important for cell growth and survival, and deregulation of ROS1 through chromosomal rearrangement drives the growth of tumors,” says Alice Shaw, MD, PhD, of the MGH Cancer Center — co-lead author of the paper which has been published online in the Journal of Clinical Oncology. “This finding is important because we have drugs that inhibit ROS1 and could lead to the sort of dramatic clinical response we describe in this paper.”
The current findings add ROS1 to the list of genes known to drive NSCLC growth when altered — a list that includes KRAS, mutations of which account for about 25 percent of cases; EGFR, accounting for 10 to 15 percent; and ALK, rearranged in about 4 percent. Altogether, known cancer-causing genetic changes have been found in a little more than half of NSCLC tumors. Originally identified in brain tumors, ROS1 rearrangement previously had been identified in one NSCLC patient and one NSCLC cell line. The current study was designed to determine the frequency of ROS1 rearrangement in NSCLC and to define the characteristics of patients with ROS1-rearranged tumors.
The investigators screened tumor samples from more than 1,000 NSCLC patients treated at the MGH, Vanderbilt University, the University of California at Irvine, and Fudan University in Shanghai, China. ROS1 rearrangement was identified in 18 tumor samples, for a prevalence of 1.7 percent; ALK rearrangements were identified in 31 samples, with no samples showing alterations in both genes. Patients with ROS1-positive tumors tended to be younger, never to have smoked and to have a type of lung cancer called adenocarcinoma — characteristics very similar to those of ALK-positive patients.
An earlier MGH study of an experimental ALK inhibitor had found the drug suppressed the growth of a ROS1-positive cell line in addition to ALK-positive cell lines, suggesting that ROS1-positive tumors might be sensitive to the ALK-inhibitor crizotinib. This observation led corresponding author John Iafrate, MD, PhD, and his team to develop a diagnostic test that could identify ROS1-positive tumors. Around the time that test became clinically available, a lung cancer patient whose tumor had not responded to drugs targeting EGFR mutations was referred to the MGH Cancer Center for genetic testing. His tumor was negative for ALK but later proved to harbor a ROS1 rearrangement, and he was enrolled in an extension of the crizotinib clinical trial first reported in the October 28, 2010, New England Journal of Medicine.
“When he enrolled in the trial last April, this patient was extremely sick — with significant weight loss and very low oxygen levels — and was barely able to walk,” says Shaw. “Within a few days of starting crizotinib, he felt better; and by the time we scanned his chest at seven weeks, the tumors had essentially disappeared from his lungs.” Nine months after starting crizotinib therapy, this patient continues to do well. Additional ROS1-positive patients have been enrolled in this trial at MGH, at UC Irvine and at the University of Colorado.
Shaw is an assistant professor of Medicine and Iafrate is an associate professor of Pathology at Harvard Medical School. Co-lead authors are Kristin Bergethon, MGH Pathology, and Sai-Hong Ignatius Ou, MD, PhD, University of California at Irvine. The study was supported by grants from the National Institutes of Health and from Pfizer, which received FDA approval for crizotinib in August 2011.
Additional co-authors are Ryohei Katayama, Eugene Mark, Julie Batten, Eunice Kwak, Jeffrey Clark, Jeffrey Engelman, and Mari Mino Kenudson, MGH Cancer Center; Christina Siwak-Tapp, University of California at Irvine; Keith D. Wilner, Pfizer; Christine Lovly, Nerina McDonald, Pierre Massion, Adriana Gonzalez, David Carbone, and William Pao, Vanderbilt University Medical Center; Pierre Massion, Nashville Veterans Affairs Medical Center; Rong Fang and Hongbin Ji, Shanghai Institutes for Biological Sciences; and Haiquan Chen, Shanghai Medical College, Fudan University.
Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.
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K. Bergethon, A. T. Shaw, S.-H. Ignatius Ou, R. Katayama, C. M. Lovly, N. T. McDonald, P. P. Massion, C. Siwak-Tapp, A. Gonzalez, R. Fang, E. J. Mark, J. M. Batten, H. Chen, K. D. Wilner, E. L. Kwak, J. W. Clark, D. P. Carbone, H. Ji, J. A. Engelman, M. Mino-Kenudson, W. Pao, A. J. Iafrate. ROS1 Rearrangements Define a Unique Molecular Class of Lung Cancers. Journal of Clinical Oncology, 2012; DOI: 10.1200/JCO.2011.35.6345
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New genetic subtype of lung cancer defined
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Full-text access for registered users only. Existing users login here . New to GenomeWeb? Register quickly here for free access. The Wade laboratory studies how bacteria regulate their gene expression.
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Genetic Technologies Posts $1.6M in Revenues in Q2
CAMBRIDGE, MASS.–(BUSINESS WIRE)–
Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) announced today that the U.S. Food and Drug Administration (FDA) has approved KALYDECOTM (ivacaftor), the first medicine to treat the underlying cause of cystic fibrosis (CF), a rare, genetic disease. KALYDECO (kuh-LYE-deh-koh) is approved for people with CF ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Approximately 1,200 people in the United States, or 4 percent of those with CF, are believed to have this mutation. KALYDECO was granted approval in approximately three months, making it one of the fastest FDA approvals ever and marking the second approval of a new medicine from Vertex in less than a year. The company has established a financial assistance and patient support program to help get KALYDECO to eligible patients for whom it is prescribed. KALYDECO was discovered as part of a collaboration with Cystic Fibrosis Foundation Therapeutics, Inc., the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation.
KALYDECO carton, bottle, and pills (Photo: Business Wire)
Vertex is ready to support the introduction of KALYDECO and will begin shipping it to pharmacies in the United States this week. The company will host a conference call for investors and media today, January 31, 2012, at 12:15 p.m. ET to provide more information on KALYDECO availability, price and the financial assistance and patient support program.
“More than 13 years ago we set out to change the lives of people with cystic fibrosis by developing new medicines that address the underlying cause of this rare and devastating disease,” said Jeffrey Leiden, M.D., Ph.D., Vertex's incoming President and Chief Executive Officer. “KALYDECO represents a major advance in the treatment of cystic fibrosis for people with a specific type of this disease. But our work isn't done. With the ongoing support of doctors, patients and the Cystic Fibrosis Foundation, we're making progress toward our ultimate goal of developing additional medicines to help many more people with cystic fibrosis.”
The approval of KALYDECO was based on data from two Phase 3 studies of people with CF who have at least one copy of the G551D mutation. Those who were treated with KALYDECO experienced significant and sustained improvements in lung function as well as other disease measures, including weight gain and certain quality of life measurements, compared to those who received placebo. People who took KALYDECO also experienced significantly fewer pulmonary exacerbations, which are periods of worsening in the signs and symptoms of the disease that often require treatment with antibiotics and hospital visits. Fewer people in the KALYDECO treatment groups discontinued treatment due to adverse events than in the placebo groups. The majority of adverse events associated with KALYDECO were mild to moderate. Adverse events commonly observed in those taking KALYDECO included headache, upper respiratory tract infection (common cold), stomach pain and diarrhea.
“Advances in cystic fibrosis treatment have helped manage symptoms of the disease, however people with cystic fibrosis still have a hard time staying healthy and being active,” said Bonnie Ramsey, M.D., Director of the Center for Clinical and Translational Research at Seattle Children's Research Institute and principal investigator for one of the Phase 3 KALYDECO trials. “KALYDECO is a fundamental shift in the way cystic fibrosis is treated. In people with a specific genetic mutation, KALYDECO helped them breathe more easily, gain weight and generally feel better.”
“Together, we're changing the lives of people with cystic fibrosis,” said Robert J. Beall, Ph.D., President and CEO of the Cystic Fibrosis Foundation. “We now have a medicine that treats the underlying cause of the disease in people with the G551D mutation. KALYDECO also provides us with a roadmap for exploring additional targeted approaches to treatment for all people with cystic fibrosis.”
Cystic fibrosis is a rare, life-threatening genetic disease for which there is no cure. CF is caused by defective or missing CFTR proteins resulting from mutations in the CFTR gene. CFTR proteins act as channels at the cell surface that control the flow of salt and water across the cells. When the defective CFTR protein does not work properly at the cell surface, abnormally thick, sticky mucus builds up in the lungs. The digestive tract and a number of other organs are also affected. KALYDECO, an oral medicine known as a CFTR potentiator, helps the CFTR protein function more normally once it reaches the cell surface. KALYDECO targets the abnormal CFTR protein channels and opens them to allow chloride ions to move into and out of the cell, which helps thin the mucus so it can hydrate and protect the airways, and keeps them from getting clogged and then infected.
Because KALYDECO targets a specific genetic mutation, a person's genotype should be known before this new medicine is prescribed. Genetic testing is widely available and FDA-cleared tests are available for people with CF whose genotype is unknown. According to the 2010 Cystic Fibrosis Foundation's Patient Registry, nearly 92 percent of people with CF have already had their CF mutations identified.
KALYDECO by itself works in a subset of people with CF, but research is ongoing to explore a similar targeted approach using a combination of medicines, including KALYDECO, to treat the most common form of the disease.
Helping People with CF Get KALYDECO
The people who work at Vertex understand that medicines can only help patients who can get them. To that end, the company offers a comprehensive financial assistance and patient support program. A specially-trained and dedicated Vertex team will provide one-on-one support to help eligible patients who are prescribed KALYDECO understand their insurance benefits and the resources that are available to help them.
For eligible patients, the program also includes the following:
Free Medicine Program: Vertex will provide KALYDECO for free to people who do not have insurance and have an annual household income of $150,000 or less; and Co-Pay Assistance Program: For patients with commercial insurance plans that cover KALYDECO and who are enrolled in the Guidance and Patient Support, or GPS, program, there will be a minimal out-of-pocket obligation after which Vertex will help cover co-pay or co-insurance costs up to 30 percent of the list price of the medicine. There is no income limit to be eligible for this program.
Some patients are not eligible for company co-pay support because they have Medicare or Medicaid coverage or live in Massachusetts. There are independent non-profit copay assistance foundations that may be able to help those patients with their out-of-pocket costs.
More information about this program is available by calling 1-877-7-KALYDECO (877-752-5933) or visiting www.VertexGPS.com.
About KALYDECO
KALYDECO is the first treatment to target the underlying cause of CF. The Phase 3 studies evaluated KALYDECO in people with CF ages 6 and older who had at least one copy of the G551D mutation. PERSIST, a Phase 3, open-label, 96-week extension study, is underway to evaluate the long-term safety and durability of treatment with KALYDECO. This ongoing study enrolled people who completed 48 weeks of treatment in either Phase 3 study (placebo and KALYDECO treatment groups) and met other eligibility criteria. KALYDECO will be taken as one 150-mg tablet twice daily (every 12 hours).
Vertex retains worldwide rights to develop and commercialize KALYDECO. In October 2011, Vertex submitted a marketing authorization application to the European Medicines Agency (EMA) for KALYDECO and has received agreement from the EMA for accelerated assessment in Europe. The EMA regulatory review is ongoing.
Indication and Important Safety Information
KALYDECO is a prescription medicine used for the treatment of cystic fibrosis (CF) in patients ages 6 years and older who have a certain mutation in their CF gene called the G551D mutation.
KALYDECO is not for use in people with CF due to other mutations in the CF gene. It is not effective in CF patients with two copies of the F508del mutation (F508del/F508del) in the CF gene.
It is not known if KALYDECO is safe and effective in children under 6 years of age.
KALYDECO should not be used with certain medicines, including the antibiotics rifampin and rifabutin; seizure medications (phenobarbital, carbamazepine, or phenytoin); and the herbal supplement St. John's Wort.
KALYDECO can cause serious side effects. High liver enzymes in the blood have occurred in patients taking KALYDECO. Regular assessment is recommended.
The most common side effects associated with KALYDECO include headache; upper respiratory tract infection (common cold) including sore throat, nasal or sinus congestion, and runny nose; stomach (abdominal) pain; diarrhea; rash; nausea; and dizziness.
These are not all the possible side effects of KALYDECO. Patients should tell their healthcare providers about any side effect that bothers them or doesn't go away.
Please see full Prescribing Information for KALYDECO at www.KALYDECO.com.
Conference Call for Media and Investors
Vertex will host a conference call and webcast today, January 31, 2012 at 12:15 p.m. ET to provide more information about today's approval, the price of KALYDECO and Vertex's new financial assistance and patient support program. The conference call will be webcast live and a link to the webcast may be accessed from the ‘Events & Presentations' page of Vertex's website at www.vrtx.com.
To listen to the live call on the telephone, dial 1-877-250-8889 (United States and Canada) or 1-720-545-0001 (International). To ensure a timely connection, it is recommended that users register at least 15 minutes prior to the scheduled webcast.
The conference ID number for the live call and replay is 48426093.
The call will be available for replay via telephone commencing January 31, 2012 at 3:00 p.m. ET running through 5:00 p.m. ET on February 7, 2012. The replay phone number for the United States and Canada is 1-855-859-2056. The international replay number is 1-404-537-3406.
Following the live webcast, an archived version will be available on Vertex's website until 5:00 p.m. ET on February 14, 2012. Vertex is also providing a podcast MP3 file available for download on the Vertex website at www.vrtx.com.
About Cystic Fibrosis
Cystic fibrosis is a rare, life-threatening genetic disease affecting approximately 30,000 people in the United States and 70,000 people worldwide. Today, the median predicted age of survival for a person with CF is approximately 38 years but the median age of death remains in the mid-20s. There are more than 1,800 known mutations in the CFTR gene. Some of these mutations, which can be determined by a genetic, or genotyping test, lead to CF by creating non-working or too few CFTR proteins at the cell surface. The absence of working CFTR proteins results in poor flow of salt and water across cell membranes in a number of organs, including the lungs. This leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage.
In some people, CFTR proteins are present at the cell surface but do not work properly. One type of this dysfunction is known as the G551D mutation. Approximately 4 percent of those with CF, or about 1,200 people in the United States, are believed to have this mutation. An estimated 1,000 people in Europe have the G551D mutation.
In people with the most common mutation in the CFTR gene, F508del, the CFTR protein does not reach the cell surface in normal amounts and the CFTR proteins that reach the surface do not work correctly. Nearly 90 percent of people with CF have at least one copy of the F508del mutation; approximately half of those with CF have two copies. KALYDECO is not effective in CF patients who have two copies of the F508del mutation in the CFTR gene.
Vertex's Ongoing CF Research and Development Program
KALYDECO has been approved by the FDA for people with CF ages 6 and older who have at least one copy of the G551D mutation. Vertex is planning to begin additional studies this year to evaluate KALYDECO in children with CF as young as 2 years old and in people with CF who have the R117H mutation or gating mutations that were not evaluated in the previous Phase 3 studies.
Enrollment is ongoing in the second part of a Phase 2 clinical trial of combination regimens of KALYDECO and VX-809, a CFTR corrector, in people with the most common mutation in CF, known as F508del. In addition, the company plans to begin Phase 2 development of VX-661, a second CFTR corrector, in the first quarter of 2012.
Collaborative History with Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT)
Vertex initiated its CF research program in 1998 as part of a collaboration with CFFT, the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation. This collaboration was expanded to support the accelerated discovery and development of Vertex's CFTR modulators.
About the Cystic Fibrosis Foundation
The Cystic Fibrosis Foundation is the world's leader in the search for a cure for cystic fibrosis. The Foundation funds more CF research than any other organization and nearly every CF drug available today was made possible because of Foundation support. Based in Bethesda, Md., the Foundation also supports and accredits a national care center network that has been recognized by the National Institutes of Health as a model of care for a chronic disease. The CF Foundation is a donor-supported nonprofit organization. For more information, visit www.cff.org.
About Vertex
Vertex creates new possibilities in medicine. Our team discovers, develops and commercializes innovative therapies so people with serious diseases can lead better lives.
Vertex scientists and our collaborators are working on new medicines to cure or significantly advance the treatment of hepatitis C, cystic fibrosis, rheumatoid arthritis, epilepsy and other life-threatening diseases.
Founded more than 20 years ago in Cambridge, MA, we now have ongoing worldwide research programs and sites in the U.S., U.K. and Canada. Today, Vertex has more than 2,000 employees around the world, and Science magazine named Vertex number one on its 2011 list of Top Employers in the life sciences.
Special Note Regarding Forward-Looking Statements
This press release contains forward-looking statements, as defined in the Private Securities Litigation Reform Act of 1995, as amended, including statements regarding (i) Vertex being ready to support the introduction of KALYDECO and beginning to ship it to pharmacies this week; (ii) Vertex's financial assistance and patient support programs; (iii) the progress Vertex is making toward its ultimate goal of developing additional medicines to help many more people with cystic fibrosis; (iv) the roadmap provided by KALYDECO for exploring additional targeted approaches to treatment for all people with cystic fibrosis; (v) the ongoing research to explore a targeted approach using a combination of medicines, including KALYDECO, to treat the most common form of the disease and (vi) planned additional clinical trials of KALYDECO in children as young as 2 years old and people with CF who have the R117H mutation and gating mutations that were not evaluated in previous Phase 3 clinical trials. While the company believes the forward-looking statements contained in this press release are accurate, there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, risks related to the commercialization of KALYDECO and development of additional medicines to treat cystic fibrosis and the other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with the Securities and Exchange Commission and available through Vertex's website at www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.
(VRTX-GEN)
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FDA Approves KALYDECO (Ivacaftor), The First Medicine To Treat The Underlying Cause Of Cystic Fibrosis
11-12-2011 09:20 A decade ago, scientists announced that they had produced the first draft of the human genome, the 3.6 billion letters of our genetic code. It was seen as one of the greatest scientific achievements of our age, a breakthrough that would usher in a new age of medicine. A decade later, Horizon finds out how close we are to developing the life-changing treatments that were hoped for. Horizon follows three people, each with a genetic disease, as they go behind the scenes at some of Britain’s leading research labs to find out what the sequencing of the human genome has done for them – and the hope this remarkable project offers all of us.
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Miracle Cure A Decade of the Human Genome – BBC Horizon (HD). 720p – Video
Public release date: 31-Jan-2012
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Contact: Katie Marquedant
kmarquedant@partners.org
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Massachusetts General Hospital
A report from investigators at the Massachusetts General Hospital (MGH) Cancer Center has defined the role of a recently identified gene abnormality in a deadly form of lung cancer. Tumors driven by rearrangements in the ROS1 gene represent 1 to 2 percent of non-small-cell lung cancers (NSCLC), the leading cause of cancer death in the U.S. The researchers show that ROS1-driven tumors can be treated with crizotinib, which also inhibits the growth of tumors driven by an oncogene called ALK, and describe the remarkable response of one patient to crizotinib treatment.
“ROS1 encodes a protein that is important for cell growth and survival, and deregulation of ROS1 through chromosomal rearrangement drives the growth of tumors,” says Alice Shaw, MD, PhD, of the MGH Cancer Center ? co-lead author of the paper which has been published online in the Journal of Clinical Oncology. “This finding is important because we have drugs that inhibit ROS1 and could lead to the sort of dramatic clinical response we describe in this paper.”
The current findings add ROS1 to the list of genes known to drive NSCLC growth when altered ? a list that includes KRAS, mutations of which account for about 25 percent of cases; EGFR, accounting for 10 to 15 percent; and ALK, rearranged in about 4 percent. Altogether, known cancer-causing genetic changes have been found in a little more than half of NSCLC tumors. Originally identified in brain tumors, ROS1 rearrangement previously had been identified in one NSCLC patient and one NSCLC cell line. The current study was designed to determine the frequency of ROS1 rearrangement in NSCLC and to define the characteristics of patients with ROS1-rearranged tumors.
The investigators screened tumor samples from more than 1,000 NSCLC patients treated at the MGH, Vanderbilt University, the University of California at Irvine, and Fudan University in Shanghai, China. ROS1 rearrangement was identified in 18 tumor samples, for a prevalence of 1.7 percent; ALK rearrangements were identified in 31 samples, with no samples showing alterations in both genes. Patients with ROS1-positive tumors tended to be younger, never to have smoked and to have a type of lung cancer called adenocarcinoma ? characteristics very similar to those of ALK-positive patients.
An earlier MGH study of an experimental ALK inhibitor had found the drug suppressed the growth of a ROS1-positive cell line in addition to ALK-positive cell lines, suggesting that ROS1-positive tumors might be sensitive to the ALK-inhibitor crizotinib. This observation led corresponding author John Iafrate, MD, PhD, and his team to develop a diagnostic test that could identify ROS1-positive tumors. Around the time that test became clinically available, a lung cancer patient whose tumor had not responded to drugs targeting EGFR mutations was referred to the MGH Cancer Center for genetic testing. His tumor was negative for ALK but later proved to harbor a ROS1 rearrangement, and he was enrolled in an extension of the crizotinib clinical trial first reported in the October 28, 2010, New England Journal of Medicine.
“When he enrolled in the trial last April, this patient was extremely sick ? with significant weight loss and very low oxygen levels ? and was barely able to walk,” says Shaw. “Within a few days of starting crizotinib, he felt better; and by the time we scanned his chest at seven weeks, the tumors had essentially disappeared from his lungs.” Nine months after starting crizotinib therapy, this patient continues to do well. Additional ROS1-positive patients have been enrolled in this trial at MGH, at UC Irvine and at the University of Colorado.
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Shaw is an assistant professor of Medicine and Iafrate is an associate professor of Pathology at Harvard Medical School. Co-lead authors are Kristin Bergethon, MGH Pathology, and Sai-Hong Ignatius Ou, MD, PhD, University of California at Irvine. The study was supported by grants from the National Institutes of Health and from Pfizer, which received FDA approval for crizotinib in August 2011.
Additional co-authors are Ryohei Katayama, Eugene Mark, Julie Batten, Eunice Kwak, Jeffrey Clark, Jeffrey Engelman, and Mari Mino Kenudson, MGH Cancer Center; Christina Siwak-Tapp, University of California at Irvine; Keith D. Wilner, Pfizer; Christine Lovly, Nerina McDonald, Pierre Massion, Adriana Gonzalez, David Carbone, and William Pao, Vanderbilt University Medical Center; Pierre Massion, Nashville Veterans Affairs Medical Center; Rong Fang and Hongbin Ji, Shanghai Institutes for Biological Sciences; and Haiquan Chen, Shanghai Medical College, Fudan University.
Massachusetts General Hospital (http://www.massgeneral.org), founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.
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Massachusetts General study defines a new genetic subtype of lung cancer
Vertex Pharmaceuticals Incorporated announced today that the U.S. Food and Drug Administration has approved KALYDECOTM , the first medicine to treat the underlying cause of cystic fibrosis , a rare, genetic disease.
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FDA Approves KALYDECO™ (ivacaftor), the First Medicine to Treat the Underlying Cause of Cystic Fibrosis
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Main Category: Genetics
Also Included In: Urology / Nephrology
Article Date: 30 Jan 2012 – 10:00 PST
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Researchers at Geisinger Health System have found that genetic abnormalities may be the cause for the majority of cerebral palsy (CP) cases, a group of disorders that can involve the brain and nervous system functions, such as seeing, movement, hearing, thinking, and learning, rather than a difficult birth or other perinatal factors. CP is the most prevalent physical disability of childhood. The study is published in The Lancet Neurology.
According to the researchers, CP may be caused by several genetic factors, similar to other neurodevelopmental disorders, such as intellectual disability and autism. The study suggests children present with CP and CP-like conditions should be considered for genetic testing by their physicians.
Andres Moreno De Luca, M.D., research scientist at the Genomic Medicine Institute, Geisinger Health System, and lead research of the study, explained:
“There is a widespread misconception that most cases of CP are caused by difficult delivery leading to birth asphyxia. What we're finding is a growing body of evidence that suggests mutations in multiple genes are responsible for CP. In fact, we suspect these genetic abnormalities may also be the cause of some difficult births to begin with.”
Although there has been considerable improvements in neonatal and obstetric care for over 4 decades, the global prevalence of GP has remained stable at 2-3 per 1,000 live births. Birth asphyxia (insufficient oxygen supply to fetuses), continues to be the most researched factor linked to CP – electronic fetal monitoring and other technologies have been created to identify fetal distress.
David Ledbetter, Ph.D., chief scientific officer, Geisinger Health System, said:
“What we're finding is the even though more preventative efforts have been put in place like fetal monitoring, the incidence of CP has not decreased. We've seen a five-fold increase in the rate of caesarean sections, which are doing in part to avoid potentially difficult delivery, and again, the CP rates remain steady. These findings lead us to believe genetics play a much bigger role than previously thought.”
According to the researchers, although the majority of CP cases are not due to birth asphyxia and CP, cases that are usually cannot be avoided by obstetric intervention, an estimated 76% of U.S. obstetricians faced medical malpractice litigation between 1999 and 2003, primarily for alleged birth mismanagement resulting in CP.
Dr. Luca explains:
“We now know of six genes that can cause CP when disrupted, and we estimate that many other developmental brain genes probably contribute to the genetic heterogeneity of this disorder. Many capable obstetricians face legal action even though research is telling us genetics is the likely cause of most cases of CP.”
According to the researchers, there will probably be an increase in research efforts, a change in the diagnostic approach, and eventually novel therapies for treating CP as more clinicians, researchers and the general population start to consider CP as a group of neurogenetic disorders.
Written By Grace Rattue
Copyright: Medical News Today
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Visit our genetics section for the latest news on this subject. Genomic insights into the causes and classification of the cerebral palsies
Dr Andres Moreno-De-Luca MD, David H Ledbetter PhD and Christa L Martin PhD
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Cerebral Palsy Linked With Genetic Abnormalities
In this June 6, 2011 file photo, former Pennsylvania Sen. Rick Santorum holds his daughter Bella before announcing he is entering the Republican presidential race, on the steps of the Somerset County Courthouse in Somerset, Pa. Bella has the genetic disorder Trisomy 18, and was hospitalized over the weekend with pneumonia.
(Credit: AP) (CBS) Bella Santorum, the 3-year-old daughter of Republican presidential candidate Rick Santorum, was hospitalized over the weekend with pneumonia and complications from the genetic disorder, Trisomy 18.
Also known as Edwards syndrome, Trisomy 18 occurs when a person is born with three copies of the 18th chromosome, as opposed to two. That extra chromosome interferes with typical childhood development, causing children to be born with clenched hands, crossed legs, feet with rounded bottoms, a small head and jaw, and intellectual disabilities. The disorder can also cause serious heart and kidney problems. Trisomy 18 occurs in about one out of every 3,000 births. It is three times more common in girls than boys, according to the National Institutes of Health.
Unlike Down syndrome, which is caused by an extra chromosome 21, the issues caused by Trisomy 18 are associated with more life-threatening medical complications and 50 percent of babies with Trisomy 18 who are carried to term are stillborn, according to the Trisomy 18 Foundation.
“When a child is born in this situation, they very rarely make it past the first week, because one or two problems can be overwhelming and it just kind of piles up,” Dr. Brian McDonough, clinical professor of family medicine at Temple University who is not involved in Bella's care, told CBS Philly.
McDonough said that even a common cold can be deadly for a child with the disorder. He said that since the Bella is over 3 years old, she's probably undergone a great deal of medical care up until now.
“Going to the hospital certainly is not something that would be unexpected,” McDonough said, “but every time a child goes to the hospital with Trisomy-18, you worry a great deal.”
CBS News reported that on Sunday Rick Santorum said Bella had a “miraculous turnaround” and remains in the hospital.
The Trisomy 18 Foundation has more on the genetic disorder.
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Santorum's baby puts spotlight on genetic disorder
22-01-2012 23:39 Jan. 23 (Bloomberg) — Dana Nieder, mother of three-year-old Maya Nieder, talks with Bloomberg’s John Lauerman about her daughter’s undiagnosed genetic disorder and her struggles with medical and insurance bureaucracies for advanced testing. (Source: Bloomberg)
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Mother Seeks Answers to Daughter’s Genetic Illness – Video
Scientists have made a major genetic breakthrough that could change the way pediatric cancers are treated in the future. The researchers identified two genetic mutations responsible for up to 40 per cent of glioblastomas in children. The mutations were found to be involved in DNA regulation, which could explain the resistance to traditional treatments, and may have significant implications on …
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Genetic breakthrough for brain cancer in children
( University of Helsinki ) The research group at the Institute for Molecular Medicine Finland has revealed eleven new genetic regions associated with the blood levels of the metabolites, including new loci affecting well-established risk markers for cardiovascular disease and potential biomarkers for type 2 diabetes. The findings may help in elucidating the processes leading to common diseases …
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Genetic regulation of metabolomic biomarkers – paths to cardiovascular diseases and type 2 diabetes