A rare disease, also called an orphan disease, is any disease that affects a small percentage of the population. In the United States, the Rare Diseases Act of 2002 defines a rare disease according to prevalence, specifically any disease or condition that affects less than 200,000 individuals in the country (~1 in 1,500 people). The 2002 Act also establishes statutory authorization for the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) as a federal entity able to recommend a national research agenda, coordinate research, and provide educational activities for researchers.

Recognizing that the high cost of drug development would discourage the development and commercialization of drugs to treat rare diseases, called orphan drugs, prior to the Rare Diseases Act of 2002, Congress passed the Orphan Drug Act of 1983. Orphan drug designation is granted to drugs and biologics intended for the safe and effective treatment, diagnosis, or prevention of rare diseases or disorders. The 1983 Act strengthened financial incentives for pharmaceutical companies by providing exclusive marketing rights for seven years, tax credits, grants, and access to special FDA technical advice.

Describing The Pipeline

The new report, developed by the Analysis Group and supported by PhRMA, finds that over 5,400 medicines are in the pharmaceutical pipeline globally (defined as products in Phase I, II, III, or having been filed with or approved by the FDA, but not yet on the market in the U.S.). Of the medicines in various phases of clinical development, 70% are potential first-in-class medicines, meaning those drugs are described by a unique pharmacological class distinct from those of any drug currently on the market. There are particularly high percentages of potential first-in-class medicines in neurology (84%), cardiovascular (81%), cancer (80%), psychiatry (79%), immunology (72%) and diabetes (71%) [2].

Although there are projects in development across the therapeutic spectrum, certain therapeutic areas showed the greatest overall number of development projects, including cancer (3,070 drugs), infections (750 drugs), neurology (610 drugs), cardiovascular (450 drugs), immunology (298 drugs), diabetes (281 drugs), psychiatry (240 drugs) and HIV/AIDS (185 drugs). 

Over the past decade, 304 new prescription medicines have been approved for use by the FDA’s Center for Drug Evaluation and Research (CDER) (see figure below). 

There has been concern among industry analysts and others about the level of drug development productivity over time (i.e. innovation produced per dollar spent on R&D), as well as the flat to declining number of new drug approvals over the last decade. However, new data from the FDA’s CDER published subsequent to the PhRMA report minimizes those concerns as 2012 was a banner year for new drugs.

For the rare disease community, the PhRMA report is also encouraging. There are nearly 7,000 rare diseases and fewer than 500 approved treatments [3]. The PhRMA report highlights the fact that there are nearly three times as many drugs in development for rare diseases today than there were ten years ago (see figure below). In the most recent five-year period, orphan drug approvals accounted for almost one-third of approvals, with the average population size for orphan designations ~39,000 patients.

Approaches focusing on personalized medicine – the tailoring of medical treatment to the individual characteristics of each patient – are also receiving a growing emphasis in drug development. A separate analysis focusing only on Phase III and Phase IV U.S. clinical trials involving the use of molecular biomarkers identified 155 personalized medicine trials that were started on or before January 2009. In support of this developing area, the FDA now lists 104 medicines with approved pharmacogenomic biomarkers in their drug labels [4].

The PhRMA report highlights a number of novel scientific approaches currently being pursued to address various diseases and conditions. Broad classes of innovative scientific “platforms” include cell therapy, antisense RNA interference therapy, monoclonal antibodies joined to cytotoxic agents to target tumor cells, and gene therapy.

References

1. Innovation in the Biopharmaceutical Pipeline: A Multidimensional View. Analysis Group. 2013 Jan.
2. The Biopharmaceutical Pipeline: Evolving Science, Hope for Patients.  Pharmaceutical Research and Manufacturers of America. 2013 Jan.
3. NORD’s 2012 Report to the Communities. National Organization for Rare Disorders. 2012.
4. Table of Pharmacogenomic Biomarkers in Drug Labels. U.S. Food and Drug Administration. Accessed 2012 Feb 20.

The prize of 10-million-Swedish-krona (US$1.5-million) was divided, one half jointly to Sir John B. Gurdon, age 79, at the Gurdon Institute, Cambridge, United Kingdom, and Shinya Yamanaka, age 50, at Kyoto University, Kyoto, Japan and the Gladstone Institutes, San Francisco, California, USA, for the discovery that mature, specialized cells can be reprogrammed to become immature cells capable of developing into all tissues of the body.

Reprogramming a differentiated cell to become pluripotent

We all develop from fertilized egg cells. Following conception, the embryo consists of immature, dedifferentiated cells, each of which is capable of developing into all the different cell types that form the adult organism. These immature, dedifferentiated cells are called pluripotent stem cells.

As the embryo continues to develop, the immature pluripotent cells give rise to specialized cell types: nerve cells, muscle cells, liver cells, etc. The widespread view during the first half of the 20th century was that the  journey from immature to specialized cell — called cellular differentiation — was considered to be a one-way street. It was thought that mature, differentiated cells couldn’t return to an immature, pluripotent stage.

John B. Gurdon challenged the dogma that the specialized cell is unable to become pluripotent again. Gurdon hypothesized that the genome of a mature cell might still contain all the information needed to direct its development into all the different cell types of an organism. In 1962, he tested this hypothesis by replacing the cell nucleus of a frog’s egg cell with a nucleus from a mature, specialized cell derived from the intestine of a tadpole [1]. The egg developed into a fully functional, cloned tadpole. Subsequent repeats of the experiment yielded adult frogs, showing that the mature cell nucleus still had the information necessary to drive development and differentiate into a fully functional organism.

While a landmark discovery, Gurdon’s research involved the replacement of cell nuclei. More than forty years later, Shinya Yamanaka identified the specific genes responsible for reprogramming mature cells to become pluripotent stem cells. Just four genes — POU class 5 homeobox 1 (POU5F1), SRY (sex determining region Y)-box 2 (SOX2), v-myc myelocytomatosis viral oncogene homolog (MYC), and Kruppel-like factor 4 (KLF4) – could induce a differentiated cell to become pluripotent; such “pluripotent stem cells (iPS cells)” could then be reprogrammed into different mature cell types. The recipe was published in 2006 and was immediately considered a major breakthrough [2].

Today, companies like Cellular Dynamics International, Inc. develop stem cell technologies based on induced pluripotent stem (iPS) cells for drug development and personalized medicine applications. Stem cells, including iPS cells, can potentially be used to replace diseased or lost cells in degenerative disorders, such as Parkinson’s disease and type 1 diabetes. Cell replacement therapy with iPS cells can also allow cell grafting that would be less prone to immune rejection since the cells are from the same person. Lastly, using iPS cells derived from patients with genetic and other disorders allows scientists to gain novel insights into disease processes.

References

1. Gurdon JB. The developmental capacity of nuclei taken from intestinal epithelium cells of feeding tadpoles. J Embryol Exp Morphol. 1962 Dec;10:622-40.
   View abstract
2. Takahashi and Yamanaka. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006 Aug 25;126(4):663-76. Epub 2006 Aug 10.
   View abstract

• Selventa Receives Patent for Method to Identify Biomarker Profiles

  Selventa, a biomarker discovery company that enables personalized healthcare through the stratification of patients based on disease-driving mechanisms, recently announced a US patent that relates methods and techniques that facilitate discovery of biomarkers, thus aiding in the development of predictive and prognostic diagnostic tests for therapeutics targeting complex multi-factorial diseases.

• Biomarker Discovery: Moving Diagnostics to the Forefront of Medical Research

  Increasing emphasis is being placed on biomarker discovery as the key to advancing personalized medicine.

• FDA Clears Critical Diagnostics Presage ST2 Assay for Patients with Heart Failure

  Critical Diagnostics is a U.S.-based biomarker company focused on optimizing patient care in cardiovascular diseases, such as heart failure.

• SciClips Launches Cancer Biomarker Database

  The success of personalized cancer therapeutics relies on the development of companion diagnostic assays that can identify the most appropriate cancer patient, tumor type and disease state. To address this need, SciClips, a Wisconsin-based open innovation platform company that enables scientists and researchers to collaborate and share research and ideas, recently launched a cancer (oncology) biomarker database.

• The Bill & Melinda Gates Foundation to Fund Biomarkers of Gut Function for Global Health

  The Bill & Melinda Gates Foundation is currently seeking letters of inquiry for the grant program Biomarkers of Gastrointestinal (Gut) Function and Health.

Breast cancer accounts for nearly 1 in 3 cancers diagnosed in U.S. women [2]. In October 2010, the National Breast Cancer Coalition (NBCC) called for a vaccine for breast cancer with a deadline of 2020. Almost a year later, GE’s healthymagination initiative has also focused on breast cancer with a target of 2020.

Modeled after GE’s ecomagination challenge, which resulted in over 5,000 submitted ideas and $134 million in investments and partnerships by GE, the new healthymagination challenge focuses on improving early detection of breast cancer at the molecular level. GE’s first healthymagination Challenge is an open call to action for oncology researchers, businesses, students, and healthcare innovators. Through the Challenge, GE and its venture capital partners will award up to $100 million to fund the best ideas to improve breast cancer diagnostics. The are several goals to the Challenge:

1. Improve early breast cancer detection and allow for more accurate diagnosis
2. Better understand tumors associated with triple negative breast cancer, which is less responsive to standard treatments and is typically more aggressive
3. Better understand the molecular similarities between breast cancer and other solid tumors

Jeff Immelt, CEO and Chairman, GE, said [3]:

We envision a day when cancer is no longer a deadly disease. When you add our cutting edge cancer detection technologies to the innovative ideas of our new partners, it’s a powerful formula for tackling cancer and helping doctors and researchers improve care.

In partnership with O’Reilly Media, the effort will also feature a special focus on data (CEO and founder, Tim O’Reilly, is an advocate for using data science to spur innovation). A series of code-a-thons or “data challenges” will be held to engage the data science community in finding new applications for breast cancer data.

To enable analysis and further accelerate innovation, GE is also investing in the development of a first-in-kind “super database” that will consolidate clinical, pathology, therapy and outcomes data. The database will be available in collaboration with leading cancer research organizations, as well as NGO and government groups, starting with relevant cancer data from GE’s Medical Quality Improvement Consortium (MQIC); Clarient, a cancer diagnostics and GE Healthcare Company; The Premier healthcare alliance; and the U.S. Department of Health & Human Services.

In addition, Immelt also said that GE will invest $1 billion over the next five years on research and development programs to expand its suite of advanced technologies and solutions for cancer detection and treatment. At the September event, GE presented several new technologies:

1. GE SenoCase, a new concept in mobile mammography that will deliver breast cancer screening capabilities to millions of women around the world who lack access to existing screening options
2. GE PET Tracer, a new Positron Emission Tomography (PET) tracer technology in development that will inform doctors if cancer treatments are working, very early in the course of treatment, by measuring new blood vessel formation in tumors
3. GE SenoBright Contrast Enhanced Spectral Mammography (CESM), a technique that helps radiologists localize a known or suspected breast cancer lesion

Lastly, GE announced a three-year partnership with Susan. G Komen for the Cure to forge first-in-kind programs that bring the latest breast cancer technologies to more women in the United States and around the world. Initially, these programs will run in Wyoming (one of the most rural states in the U.S.), Saudi Arabia and China.

GE will publicly track progress against this cancer initiative at healthymagination.com.

References

1. GE Launches New Commitment to Accelerate Cancer Fight: Integrated Tech Portfolio and Collaboration with Doctors and Researchers to Deliver Better Care to 10M Patients by 2020. GE reports. 2011 Sep 15.
2. Breast Cancer Facts & Figures 2011-2012. American Cancer Society. Accessed 2011 Nov 17.
3. GE and Partners Aim to Speed Fight Against Cancer, Starting with Breast Cancer. Healthymagniation press release. 2011 Sep 15.

• Recent Advances in Biomarker Discovery for Parkinson’s disease, a Satellite Symposium at the Society for Neuroscience Annual Meeting

  A satellite symposium, Recent Advances in Biomarker Discovery for Parkinson’s Disease, is being sponsored by Covance on November 13th, 2011 at the Society for Neuroscience Annual Meeting in Washington, D.C.

• NYAS Symposium: Biomarkers and Brain Imaging of Presymptomatic Alzheimer’s Disease

  The New York Academy of Sciences (NYAS) will be holding an afternoon event in January 2012 that focuses on biomarkers and brain imaging of presymptomatic Alzheimer’s disease.

• NIH to Support Clinical Trial Implementation or Biomarker Clinical Evaluation Studies

  Earlier this month, the National Institutes of Health announced that the National Institute of Dental and Craniofacial Research (NIDCR) Institute will support mission-relevant investigator-initiated Phase I, II, III or IV clinical trial cooperative agreement applications or biomarker evaluation studies that require prospective collection of clinical outcomes and clinical specimens.

• NIH to Fund Studies that Adapt Adult Biomarkers to Children

  The National Institutes of Health announced Thursday that the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will support studies that propose adapting adult biomarkers to children.

• CLC bio to Develop Bioinformatics Tools for Prostate Cancer Biomarker Project

  CLC bio is participating in a $4 million Danish collaboration focused on the identification and validation of biomarkers of prostate cancer risk and aggressiveness.

The prize of 10-million-Swedish-krona (US$1.5-million) was divided, one half jointly to Bruce A. Beutler, age 54, at The Scripps Research Institute, La Jolla, California, and Jules A. Hoffmann, age 70, at the French National Centre for Scientific Research (CNRS) Institute of Cell and Molecular Biology in Strasbourg, for their discovery of receptor proteins that can recognize bacteria and other microorganisms and activate innate immunity, and the other half to Ralph M. Steinman, age 68, at Rockefeller University in New York, for his discovery of dendritic cells of the immune system and their unique capacity to activate and regulate adaptive immunity, the later stage of the immune response during which microorganisms are cleared from the body.

There are pathogenic microorganisms in the world (bacteria, virus, fungi and parasites) that continuously threaten our health. Our bodies protect us with powerful defense mechanisms. The first line of defense is innate immunity, which can destroy invading microorganisms and trigger inflammation that contributes to blocking their assault. If microorganisms break through this first line of defense, a second line kicks in: adaptive immunity. Consisting of T cells and B cells, adaptive immunity produces antibodies and killer cells that destroy infected cells. After successfully combating the pathogen, our adaptive immune system maintains an immunologic memory that allows for a more rapid and powerful mobilization of defenses next time the same microorganism attacks.

According to the Nobel committee, these two lines of defense by the immune system have opened up new avenues for the development of prevention and therapy against infections, cancer, and inflammatory diseases [1]:

The discoveries that are awarded the 2011 Nobel Prize have provided novel insights into the activation and regulation of our immune system. They have made possible the development of new methods for preventing and treating disease, for instance with improved vaccines against infections and in attempts to stimulate the immune system to attack tumors. These discoveries also help us understand why the immune system can attack our own tissues, thus providing clues for novel treatment of inflammatory diseases.

National Institute of Allergy and Infectious Diseases (NIAID) Director Anthony S. Fauci, M.D., said [2]:

NIAID has had the honor of supporting all three awardees. Their elegant work has been — and will continue to be — extraordinary in its impact. It is rare that an investigator makes a discovery so important that it influences virtually every aspect of a scientific discipline. Their discoveries have opened up the possibility of harnessing the body’s own cells and immune processes to prevent infectious diseases, autoimmune disorders, allergic diseases, cancer, and rejection of organ transplants.

Nobel announcement overshadowed by winner’s death

Unknown to the Nobel committee, one of the scientists, Ralph Steinman, died on September 30. This information reached the Nobel Assembly several hours after they had announced the 2011 Nobel Laureates in Physiology or Medicine. The event is unprecedented in the history of the Nobel Prize. Although the Nobel committee cannot issue posthumous awards, the Board of the Nobel Foundation has concluded that the decision to award the Nobel Prize to Ralph Steinman was made in good faith, based on the assumption that the Nobel Laureate was alive [3]. Accordingly, 2011 Nobel Prize in Physiology or Medicine to the late Ralph Steinman remains unchanged.

Ironically, Steinman was being treated for pancreatic cancer with a therapy derived from his original discovery. After being diagnosed with pancreatic cancer four-and-a-half years ago, Steinman launched a life-and-death experiment in the most personal of personalized medicine. He removed a piece of tumor and trained his immune cells to track down any remaining tumor that might escape surgery. This experiment may have given Steinman several years of additional life (less than 4% of people with pancreatic cancer survive 5 years [4]).

References

1. The 2011 Nobel Prize in Physiology or Medicine – Press Release. Nobelprize.org. 5 Oct 2011.
2. NIH grantees win 2011 Nobel Prize in physiology or medicine. NIH News. 2011 Oct 3.
3. Ralph Steinman Remains Nobel Laureate. Nobelprize.org press release. 2011 Oct 3.
4. Pancreatic cancer survival by stage. American Cancer Society. Accessed 2011 Oct 4.

Asthma is a chronic inflammatory disease that affects 24 million people in the United States and roughly 300 million people worldwide [2]. The disease affects the lungs, causing repeated episodes of wheezing, breathlessness, chest tightness, and nighttime or early morning coughing. A number of factors can influence how severely the disease affects people and how well they respond to treatments. In addition to avoiding the triggers that can cause an attack, asthma can also be controlled by taking medication. However, the response to treatment is characterized by high interindividual variability. Poor response to inhaled corticosteroids often runs in families, suggesting that genetics plays a role in how people respond to the treatment.

To identify a gene variant, researchers from Brigham and Women’s Hospital and Harvard Medical School analyzed the genetic information from over 1,000 people enrolled in five separate clinical trials evaluating different steroid treatments for asthma. Investigators first conducted a genome-wide scan of the DNA of children and their parents enrolled in the Childhood Asthma Management Program, a multicenter, randomized, double-masked clinical trial designed to determine the long-term effects of three inhaled treatments for mild to moderate childhood asthma: budesonide (a glucocorticoid used daily) and albuterol (a short-acting beta-agonist bronchodilator used as needed); nedocromil (a nonsteroid anti-inflammatory agent used daily) and albuterol; and placebo and albuterol [3]. The scan identified 13 single nucleotide polymorphisms (SNPs) encompassing eight genes, including a variant in a gene called glucocorticoid induced transcript 1 (GLCCI1), which appeared to be associated with poor response to inhaled corticosteroids.

Researchers then verified the association in three additional studies on people with asthma, both children and adults. Due to the small numbers of subjects in other racial groups, the analyses were restricted to white participants.

The scientists found that people carrying two copies of the GLCCI1 variant were more than twice as likely to respond poorly to inhaled corticosteroid treatment as individuals with two copies of the normal GLCCI1 gene. Those who responded poorly had an average of one-third the level of lung improvement following inhaler treatment as did people with two normal copies of the gene.

Approximately 1-in-6 study participants had two copies of the GLCCI1 variant, which is thought to work together with other genetic and environmental factors to affect response to inhaled corticosteroids. Additional studies are needed to understand how GLCCI1 functions in the lungs and to explore whether it contributes to therapeutic response in patients of other ethnic groups.

Dr. Jeffrey Drazen, NEJM Editor-in-Chief, said in an editorial that the study brings researchers closer to being able to identify which patients are most likely to respond to treatment from inhaled steroids but that clinical trials are necessary to determine whether knowledge of this information leads to better clinical outcomes [4].

Susan Shurin, M.D., acting director of the National Heart, Lung, and Blood Institute (NHLBI), a component of the National Institutes of Health (NIH) that plans, conducts, and supports research related to the causes, prevention, diagnosis and treatment of heart, blood vessel, lung, and blood diseases, said [5]:

This finding helps to explain the genetic basis for the long-standing observation that some people do not respond well to what is a common asthma treatment. The study illustrates the importance of research examining the relationship between genetic makeup and response to therapy for asthma, and underscores the need for personalized treatment for those who have it.

Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 24 million people have asthma; 7 million of these people are children [2]. For more information on asthma — what it is, its effects and how it is diagnosed and treated — check out the CDC’s You Can Control Your Asthma brochure.

References

1. Tantisira et al. Genomewide Association between GLCCI1 and Response to Glucocorticoid Therapy in Asthma. Epub 2011 Sept 26.
2. FASTSTATS — Asthma. Centers for Disease Control and Prevention. Accessed 2011 Sep 26.
3. The Childhood Asthma Management Program (CAMP): design, rationale, and methods. Childhood Asthma Management Program Research Group. Control Clin Trials. 1999 Feb;20(1):91-120.
   View abstract
4. Drazen, JM. A Step toward Personalized Asthma Treatment. Epub 2011 Sept 26.
5. NIH-funded study connects gene variant to response to asthma drugs. NIH News press release. 2011 Sep 26.

• Biomarker Commons Named World Companion Diagnostics Summit Media Partner

  Diagnostics used to select patients for treatment with a particular therapeutic or determine what and/or how treatment will be administered have been termed companion diagnostics. Companion diagnostics hold great promise for personalized medicine. A companion diagnostic is a biomarker(s) used in a specific context that provides biological and/or clinical information that enables better decision making about the development and use of a potential therapeutic. Given the significance of companion diagnostics, I’m proud to announce Biomarker Commons’ first media partnership with the 4th World Companion Diagnostics Summit.

• Personalized Medicine or Patient-centered Care?

  Personalized medicine is a term used in science and medicine that holds significant promise of administering medicines specifically tailored to an individual’s genome or metabolism. However, an editorial published yesterday in the Canadian Medical Association Journal (CMAJ) suggests that the term creates an image for the public that is completely opposite of science and technology and sets up unrealistic expectations.

• FDA, EMA Seek Input on Companion Diagnostics, Genomic Biomarkers

  Regulators in the U.S. and Europe have each posted requests for public comment on issues affecting the development of medicines by drug companies.

• FDA Issues New Guidelines on Clinical and Nonclinical Genomic Biomarkers

  The U.S. Food and Drug Administration (FDA) has issued new guidelines on biomarkers related to drug or biotechnology product development. The guidance was developed within the Efficacy Working Group of the International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH).

• Neuroimaging Identifies an Endophenotype and Candidate Biomarker for Autism

  In response to facial expression of emotional, a similar pattern of brain activity is observed in both people with autism and their unaffected siblings. Researchers from the University of Cambridge recently used functional magnetic resonance imaging (fMRI), a specialized MRI scan used to measure the change in blood flow related to neural activity in the brain, to show that reduced activity in areas of the brain associated with empathy and face processing is a candidate biomarker for familial risk of autism. The findings were published online recently in the journal Translational Psychiatry.

• TCGA Study Brings Ovarian Cancer Patients Closer to Personalized Medicine

  In the June 30 issue of Nature, researchers from The Cancer Genome Atlas (TCGA) Research Network provide a large-scale integrative report on genetic mutations and pathways that distinguish the most common and aggressive type of ovarian cancer from other types of ovarian cancer as well as from other solid tumors. The disease is not defined by one or few cancer-driving genes but rather numerous mutations that individually occur in only a small number of cases. Given the degree of genomic disarray, the study results suggest that genomic structural variation is the driver of ovarian cancer. The findings may be helpful in guiding physicians to choose experimental treatments that are most likely to target molecular alterations effectively in patients with high-grade serous ovarian adenocarcinoma.

• BGI Expanding Proteomics Services to Include Mass Spectrometry

  Earlier this month, Adam Bonislawski at GenomeWeb’s Proteomonitor reported that China-based BGI intends to expand its proteomics offerings and buy ~50 new mass spectrometers over the next two years. This diversification into clinical and drug-development services is a forward-thinking move for the genomics/bioinformatics giant and one that should be taken seriously by current proteomics service providers.

• DHMRI Establishes Immune Monitoring Laboratory for Biomarker Discovery and Development

  Last week, the David H. Murdock Research Institute (DHMRI) announced that it acquired the Immune Tolerance Institute, Inc. (ITI) as a next step in its continued growth. The DHMRI provides integrated, state-of-the-art genomic, cellular, proteomic and bioinformatics technology platforms as a major resource for a range of academic and industry partners undertaking both preclinical and clinical research.

• NINDS to Fund Biomarker Clinical Study for Spinal Muscular Atrophy

  Earlier this month, the National Institute of Neurological Disorders and Stroke (NINDS) announced a funding opportunity and invited applications for a study of candidate biomarkers in Spinal Muscular Atrophy (SMA). The goals of the SMA biomarker validation study are to: (1) evaluate biomarkers and clinical outcomes longitudinally across a spectrum of SMA cases; (2) establish a clinical outcomes and biomarker database; and (3) contribute samples to the NINDS biorepository at the Coriell Institute for Medical Research to capture and share methods and pre-competitive data.

• SciClips Launches Biomarker and Drug Discovery Protocols Database

  SciClips is an open innovation platform that enables scientists and researchers to collaborate and share research and ideas. Following up on a diagnostic and prognostic biomarker database released earlier this year, SciClips has launched a second database constisting of biomarker and drug discovery research protocols.

• Results of Highly Cited Biomarker-disease Associations Often Overestimated

  Although new biomarkers are regularly proposed to serve as potential determinants of disease risk, prognosis or response to treatment, many markers only get evaluated in one or a small number of studies. A review in the June 1st edition of JAMA reports that the results of highly cited biomarker-disease associations that appear in major journals are often substantially overestimated, with effect sizes exceeding those found when the association is evaluated in larger studies.

• Roche, UCLA Announce Biomarker Research Collaboration

  Roche said last week that it will provide UCLA scientists with a range of genomics tools as part of a research collaboration to study stem cells and cancer, and for the development of new predictive biomarkers for future therapeutics and diagnostics for a host of diseases.

• Stemina Biomarker Discovery, Children’s Hospital of Orange County Sign Agreement to Study Autism

  Stemina Biomarker Discovery announced on Friday that it has signed an agreement with Children’s Hospital of Orange County (CHOC) to conduct a study of neural cells from autistic patients using Stemina’s proprietary biomarker discovery platform.

• Indiana CTSI, GVK Biosciences Partner to Provide National Access to Biomarkers Database

  The Indiana Clinical and Translational Sciences Institute (CTSI), a statewide collaboration of Indiana University, Purdue University and the University of Notre Dame, as well as public and private partnerships, which facilitates the translation of scientific discoveries in the lab into clinical trials and new patient treatments in Indiana and beyond, announced on Friday that they have partnered with GVK Biosciences. GVK Biosciences will provide researchers across the United States access to their clinical biomarker database.

• Biomarker Briefs: June 13, 2011

  Biomarker Briefs is an occasionally recurring series highlighting particularly interesting articles on biomarkers and/or personalized medicine. This edition includes articles on personalized medicine, a new online tool for analyzing personal genome data, a blood test for depression, and a kidney injury biomarker initiative.