StemCell Therapy

Hematopoietic stem cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood. It may be autologous (the patient's own stem cells are used) or allogeneic (the stem cells come from a donor). It is a medical procedure in the field of hematology, most often performed for patients with certain cancers of the blood or bone marrow, such as multiple myeloma or leukemia. In these cases, the recipient's immune system is usually destroyed with radiation or chemotherapy before the transplantation. Infection and graft-versus-host disease are major complications of allogeneic HSCT.

Hematopoietic stem cell transplantation remains a dangerous procedure with many possible complications; it is reserved for patients with life-threatening diseases. As the survival of the procedure increases, its use has expanded beyond cancer, such as autoimmune diseases.[1][2]

Indications for stem cell transplantation are as follows:

Many recipients of HSCTs are multiple myeloma[3] or leukemia patients[4] who would not benefit from prolonged treatment with, or are already resistant to, chemotherapy. Candidates for HSCTs include pediatric cases where the patient has an inborn defect such as severe combined immunodeficiency or congenital neutropenia with defective stem cells, and also children or adults with aplastic anemia[5] who have lost their stem cells after birth. Other conditions[6] treated with stem cell transplants include sickle-cell disease, myelodysplastic syndrome, neuroblastoma, lymphoma, Ewing's sarcoma, desmoplastic small round cell tumor, chronic granulomatous disease and Hodgkin's disease. More recently non-myeloablative, "mini transplantmicrotransplantation)," procedures have been developed that require smaller doses of preparative chemo and radiation. This has allowed HSCT to be conducted in the elderly and other patients who would otherwise be considered too weak to withstand a conventional treatment regimen.

A total of 50,417 first hematopoietic stem cell transplants were reported as taking place worldwide in 2006, according to a global survey of 1327 centers in 71 countries conducted by the Worldwide Network for Blood and Marrow Transplantation. Of these, 28,901 (57%) were autologous and 21,516 (43%) were allogeneic (11,928 from family donors and 9,588 from unrelated donors). The main indications for transplant were lymphoproliferative disorders (54.5%) and leukemias (33.8%), and the majority took place in either Europe (48%) or the Americas (36%).[7] In 2009, according to the World Marrow Donor Association, stem cell products provided for unrelated transplantation worldwide had increased to 15,399 (3,445 bone marrow donations, 8,162 peripheral blood stem cell donations, and 3,792 cord blood units).[8]

Autologous HSCT requires the extraction (apheresis) of haematopoietic stem cells (HSC) from the patient and storage of the harvested cells in a freezer. The patient is then treated with high-dose chemotherapy with or without radiotherapy with the intention of eradicating the patient's malignant cell population at the cost of partial or complete bone marrow ablation (destruction of patient's bone marrow function to grow new blood cells). The patient's own stored stem cells are then transfused into his/her bloodstream, where they replace destroyed tissue and resume the patient's normal blood cell production. Autologous transplants have the advantage of lower risk of infection during the immune-compromised portion of the treatment since the recovery of immune function is rapid. Also, the incidence of patients experiencing rejection (graft-versus-host disease) is very rare due to the donor and recipient being the same individual. These advantages have established autologous HSCT as one of the standard second-line treatments for such diseases as lymphoma.[9]

However, for others cancers such as acute myeloid leukemia, the reduced mortality of the autogenous relative to allogeneic HSCT may be outweighed by an increased likelihood of cancer relapse and related mortality, and therefore the allogeneic treatment may be preferred for those conditions.[10] Researchers have conducted small studies using non-myeloablative hematopoietic stem cell transplantation as a possible treatment for type I (insulin dependent) diabetes in children and adults. Results have been promising; however, as of 2009[update] it was premature to speculate whether these experiments will lead to effective treatments for diabetes.[11]

Allogeneics HSCT involves two people: the (healthy) donor and the (patient) recipient. Allogeneic HSC donors must have a tissue (HLA) type that matches the recipient. Matching is performed on the basis of variability at three or more loci of the HLA gene, and a perfect match at these loci is preferred. Even if there is a good match at these critical alleles, the recipient will require immunosuppressive medications to mitigate graft-versus-host disease. Allogeneic transplant donors may be related (usually a closely HLA matched sibling), syngeneic (a monozygotic or 'identical' twin of the patient - necessarily extremely rare since few patients have an identical twin, but offering a source of perfectly HLA matched stem cells) or unrelated (donor who is not related and found to have very close degree of HLA matching). Unrelated donors may be found through a registry of bone marrow donors such as the National Marrow Donor Program. People who would like to be tested for a specific family member or friend without joining any of the bone marrow registry data banks may contact a private HLA testing laboratory and be tested with a mouth swab to see if they are a potential match.[12] A "savior sibling" may be intentionally selected by preimplantation genetic diagnosis in order to match a child both regarding HLA type and being free of any obvious inheritable disorder. Allogeneic transplants are also performed using umbilical cord blood as the source of stem cells. In general, by transfusing healthy stem cells to the recipient's bloodstream to reform a healthy immune system, allogeneic HSCTs appear to improve chances for cure or long-term remission once the immediate transplant-related complications are resolved.[13][14][15]

A compatible donor is found by doing additional HLA-testing from the blood of potential donors. The HLA genes fall in two categories (Type I and Type II). In general, mismatches of the Type-I genes (i.e. HLA-A, HLA-B, or HLA-C) increase the risk of graft rejection. A mismatch of an HLA Type II gene (i.e. HLA-DR, or HLA-DQB1) increases the risk of graft-versus-host disease. In addition a genetic mismatch as small as a single DNA base pair is significant so perfect matches require knowledge of the exact DNA sequence of these genes for both donor and recipient. Leading transplant centers currently perform testing for all five of these HLA genes before declaring that a donor and recipient are HLA-identical.

Race and ethnicity are known to play a major role in donor recruitment drives, as members of the same ethnic group are more likely to have matching genes, including the genes for HLA.[16]

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knowledge center home stem cell research all about stem cells what are stem cells?

Stem cells are a class of undifferentiated cells that are able to differentiate into specialized cell types. Commonly, stem cells come from two main sources:

Both types are generally characterized by their potency, or potential to differentiate into different cell types (such as skin, muscle, bone, etc.).

Adult or somatic stem cells exist throughout the body after embryonic development and are found inside of different types of tissue. These stem cells have been found in tissues such as the brain, bone marrow, blood, blood vessels, skeletal muscles, skin, and the liver. They remain in a quiescent or non-dividing state for years until activated by disease or tissue injury.

Adult stem cells can divide or self-renew indefinitely, enabling them to generate a range of cell types from the originating organ or even regenerate the entire original organ. It is generally thought that adult stem cells are limited in their ability to differentiate based on their tissue of origin, but there is some evidence to suggest that they can differentiate to become other cell types.

Embryonic stem cells are derived from a four- or five-day-old human embryo that is in the blastocyst phase of development. The embryos are usually extras that have been created in IVF (in vitro fertilization) clinics where several eggs are fertilized in a test tube, but only one is implanted into a woman.

Sexual reproduction begins when a male's sperm fertilizes a female's ovum (egg) to form a single cell called a zygote. The single zygote cell then begins a series of divisions, forming 2, 4, 8, 16 cells, etc. After four to six days - before implantation in the uterus - this mass of cells is called a blastocyst. The blastocyst consists of an inner cell mass (embryoblast) and an outer cell mass (trophoblast). The outer cell mass becomes part of the placenta, and the inner cell mass is the group of cells that will differentiate to become all the structures of an adult organism. This latter mass is the source of embryonic stem cells - totipotent cells (cells with total potential to develop into any cell in the body).

In a normal pregnancy, the blastocyst stage continues until implantation of the embryo in the uterus, at which point the embryo is referred to as a fetus. This usually occurs by the end of the 10th week of gestation after all major organs of the body have been created.

However, when extracting embryonic stem cells, the blastocyst stage signals when to isolate stem cells by placing the "inner cell mass" of the blastocyst into a culture dish containing a nutrient-rich broth. Lacking the necessary stimulation to differentiate, they begin to divide and replicate while maintaining their ability to become any cell type in the human body. Eventually, these undifferentiated cells can be stimulated to create specialized cells.

Stem cells are either extracted from adult tissue or from a dividing zygote in a culture dish. Once extracted, scientists place the cells in a controlled culture that prohibits them from further specializing or differentiating but usually allows them to divide and replicate. The process of growing large numbers of embryonic stem cells has been easier than growing large numbers of adult stem cells, but progress is being made for both cell types.

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Home Complications or Side Effects of Autologous Stem Cell Transplantation Categories: Cancer Treatment Overview

The nature and severity of the side effects from high-dose chemotherapy and autologous stem cell transplantation are directly related to the type of high-dose chemotherapy treatment regimen used and are further influenced by the condition and age of the patient. The safety of autologous transplant has improved a great deal thanks to advancements in supportive care to manage the many potential side effects. While high doses of chemotherapy and radiation therapy can potentially affect any of the bodys normal cells or organs, the more common side effects are well described and include the following:

High-dose chemotherapy directly destroys the bone marrows ability to produce white blood cells, red blood cells and platelets. Patients experience side effects caused by low numbers of white blood cells (neutropenia), red blood cells (anemia) and platelets (thrombocytopenia). Patients usually need blood and platelet transfusions to treat anemia and thrombocytopenia until the new graft beings producing blood cells. The duration of bone marrow suppression can be shortened by infusing an optimal number of stem cells and administering growth factors that hasten the recovery of blood cell production.

During the two to three weeks it takes the new bone marrow to grow and produce white blood cells, patients are susceptible to infection and require the administration of antibiotics to prevent bacterial and fungal infections. Bacterial infections are the most common during this initial period of neutropenia. Stem cells collected from peripheral blood tend to engraft faster than bone marrow and may reduce the risk of infection by shortening the period of neutropenia. The growth factor Neupogen (filgrastim) also increases the rate of white blood cell recovery and has been approved by the Food and Drug Administration for use during autologous stem cell transplant.

The immune system takes even longer to recover than white blood cell production, with a resulting susceptibility to some bacterial, fungal and viral infections for weeks to months. After initial recovery from autologous stem cell transplant, patients are often required to take antibiotics for weeks to months to prevent infections from occurring. Prophylactic antibiotic administration can prevent Pneumocystis carinii pneumonia and some bacterial and fungal infections. Prophylactic antibiotics can also decrease the incidence of herpes zoster infection, which commonly occurs after high-dose chemotherapy and autologous stem cell transplant.

High-dose chemotherapy can result in damage to the liver, which can be serious and even fatal. This complication is increased in patients who have substantial amounts of previous chemotherapy and/or radiation therapy, a history of liver damage or hepatitis. Veno-occlusive disease (VOD) of the liver typically occurs in the first two weeks after high-dose chemotherapy treatment. Patients typically experience symptoms of abdominal fullness or swelling, liver tenderness and weight gain from fluid retention. Development of strategies to prevent or treat VOD is an active area of clinical investigation.

High-dose chemotherapy can directly damage the cells of the lungs. This may be more frequent in patients treated with certain types of chemotherapy and/or radiation therapy given prior to the transplant. This complication of transplant may occur anytime, from a few days after high-dose chemotherapy to several months after treatment. This often occurs after a patient has returned home from a transplant center and is being seen by a local oncologist.

Patients typically experience a dry non-productive cough or shortness of breath. Both patients and their doctors often misinterpret these early symptoms. Patients experiencing shortness of breath or a new cough after autologous transplant should bring this to the immediate attention of their doctor since this can be a serious and even fatal complication.

Graft failure is extremely unusual in autologous stem cell transplantation. Graft failure occurs when bone marrow function does not return. The graft may fail to grow in the patientresulting in bone marrow failurewith the absence of red blood cells, white blood cells and platelet production. This results in infection, anemia and bleeding. Graft failure may also occur in patients with extensive marrow fibrosis before transplantation, a viral illness or from the use of some drugs (such as methotrexate). In leukemia patients, graft failure often is associated with a recurrence of cancer; the leukemic cells may inhibit the growth of the transplanted cells. In some cases, the reasons for graft failure are unknown.

There are several long-term or late side effects that result from the chemotherapy and radiation therapy used in autologous stem cell transplant. The frequency and severity of these problems depends on the radiation or chemotherapy used to treat the patient. It is important to have the doctors providing your care explain the specific long-term side effects that can occur with the actual proposed treatment. Some examples of complications you should be aware of include the following:

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What are bone marrow and hematopoietic stem cells?

Bone marrow is the soft, sponge-like material found inside bones. It contains immature cells known as hematopoietic or blood-forming stem cells. (Hematopoietic stem cells are different from embryonic stem cells. Embryonic stem cells can develop into every type of cell in the body.) Hematopoietic stem cells divide to form more blood-forming stem cells, or they mature into one of three types of blood cells: white blood cells, which fight infection; red blood cells, which carry oxygen; and platelets, which help the blood to clot. Most hematopoietic stem cells are found in the bone marrow, but some cells, called peripheral blood stem cells (PBSCs), are found in the bloodstream. Blood in the umbilical cord also contains hematopoietic stem cells. Cells from any of these sources can be used in transplants.

What are bone marrow transplantation and peripheral blood stem cell transplantation?

Bone marrow transplantation (BMT) and peripheral blood stem cell transplantation (PBSCT) are procedures that restore stem cells that have been destroyed by high doses of chemotherapy and/or radiation therapy. There are three types of transplants:

Why are BMT and PBSCT used in cancer treatment?

One reason BMT and PBSCT are used in cancer treatment is to make it possible for patients to receive very high doses of chemotherapy and/or radiation therapy. To understand more about why BMT and PBSCT are used, it is helpful to understand how chemotherapy and radiation therapy work.

Chemotherapy and radiation therapy generally affect cells that divide rapidly. They are used to treat cancer because cancer cells divide more often than most healthy cells. However, because bone marrow cells also divide frequently, high-dose treatments can severely damage or destroy the patients bone marrow. Without healthy bone marrow, the patient is no longer able to make the blood cells needed to carry oxygen, fight infection, and prevent bleeding. BMT and PBSCT replace stem cells destroyed by treatment. The healthy, transplanted stem cells can restore the bone marrows ability to produce the blood cells the patient needs.

In some types of leukemia, the graft-versus-tumor (GVT) effect that occurs after allogeneic BMT and PBSCT is crucial to the effectiveness of the treatment. GVT occurs when white blood cells from the donor (the graft) identify the cancer cells that remain in the patients body after the chemotherapy and/or radiation therapy (the tumor) as foreign and attack them.

What types of cancer are treated with BMT and PBSCT?

BMT and PBSCT are most commonly used in the treatment of leukemia and lymphoma. They are most effective when the leukemia or lymphoma is in remission (the signs and symptoms of cancer have disappeared). BMT and PBSCT are also used to treat other cancers such as neuroblastoma (cancer that arises in immature nerve cells and affects mostly infants and children) and multiple myeloma. Researchers are evaluating BMT and PBSCT in clinical trials (research studies) for the treatment of various types of cancer.

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Regenerative Medicine

Regenerative Medicine in the News...

Designing a Synthetic Gel that Changes Shape and Moves via Its Own Internal Energy

By developing a new computational model, McGowan Institute for Regenerative Medicine affiliated faculty member Anna Balazs, PhD, and Pitts Olga Kuksenok, PhD, have designed a synthetic polymer gel that can utilize internally generated chemical energy to undergo shape-shifting and self-sustained propulsion.

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Clifford Brubaker to End 25-Year Tenure as Dean of Health and Rehabilitation Sciences

Clifford E. Brubaker, PhD, who has served as professor and dean of the University of Pittsburgh School of Health and Rehabilitation Sciences for nearly 25 years, will step down from the deanship on July 1. Dr. Brubaker, a Distinguished Service Professor of Health and Rehabilitation Sciences, also holds appointments in the McGowan Institute for Regenerative Medicine, the Department of Neurological Surgery, and the Clinical and Translational Science Institute.

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Dr. Krzysztof Matyjaszewski Wins Dreyfus Prize

Krzysztof Matyjaszewski, PhD, the J.C. Warner University Professor of Natural Sciences at Carnegie Mellon University, has won the 2015 Dreyfus Prize in the Chemical Sciences, an international prize given every 2 years to recognize accomplishments in different areas of chemistry. Dr. Matyjaszewski is also a McGowan Institute for Regenerative Medicine affiliated faculty member.

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ACPM To Host Regional Summits on Health Systems Transformation

ACPM is hosting three upcoming opportunities for members and partners to engage in Health Systems Transformation (HST) activities. Regional Summits on HST will occur in California, Tennessee, and New York in May and June 2015. Attendees will be able to identify innovative health systems transformation activities occurring in the surrounding region, discuss the role of population health in health systems transformation, and define the roles of public and private sector entities in health. These regional meetings represent one of several projects developed through a cooperative agreement with the U.S. Centers for Disease Control and Prevention to educate, connect, and promote health systems transformation to the preventive medicine and public health community.

Registration is NOW OPEN for these events and is only $30 per attendee. CME/MOC credits will be offered at each meeting. Space is limited.

ACPM Board of Regents Adopts New Strategic Plan

ACPM announced the release of a new strategic plan, adopted by the Board of Regents in October 2014, to guide the Colleges strategic initiatives and resource allocation over the next two years. The plan blends the most recent strategic plana high-level guiding framework for the organization adopted by the Board in November 2011with four focused strategic initiatives developed by an ACPM task force led by then-ACPM President-elect Dan Blumenthal. The strategic initiatives and related objectives were identified during a day-long, facilitated retreat in June, 2014 and refined by the task force and Executive Committee over the subsequent five months.

Clinical Safety and Pharmacovigilance Career Opportunities

ACPM has partnered with Otsuka Pharmaceutical Development & Commercialization, Inc. (OPDC) to place early and mid-career preventive medicine physicians in rewarding clinical safety and pharmacovigilance positions. Learn more about available opportunities.

ACPM Welcomes New Affiliate Organization Read About This Partnership

What is Preventive Medicine?

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American College of Preventive Medicine

Public Health Sciences is an academic department within Loyola Stritch School of Medicine. While the discipline of public health has traditionally been disconnected from clinical medicine it is now widely accepted that to meet the challenges of the 21st century we must create a health system where research, education and patient care function as a fully integrated whole. To achieve this goal we envision an array of multi-disciplinary programs that are capable of monitoring health trends and identifying disease-causing agents, assessing the medical care needs of populations, providing high quality preventive and curative treatment for everyone in our society, and measuring the outcomes of these interventions in the population and for individual patients. Reaching this goal is a formidable challenge for the United States, given our historically limited investment in public health, the fragmented system of health care currently in place, and our weak capacity to monitor quality and outcomes.

The Loyola Department of Public Health Sciences seeks to play a role in helping us reach this goal of a universal, integrated health system through research and teaching. In particular, we believe the need to address health inequalities among racial, ethnic and other marginalized populations is the most urgent challenge the US health system faces. Since its inception the Departments research and service has been largely focused on that challenge. Health inequalities do not stop at national borders and our Department also has a long tradition of global health research and education in public health.

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Welcome to the Department of Veterinary Preventive Medicine (VPM), one of three academic departments within the College of Veterinary Medicine.

Established in 1934 as the first of its kind, the Department of Veterinary Preventive Medicine provides the major agricultural and public health focus for the College of Veterinary Medicine. It was established for the purposes of preventing and controlling globally important diseases of food animals and humans. To achieve its goals, VPM combines the disciplines of veterinary microbiology, epidemiology, immunology, parasitology, public health, production medicine, and clinical medicine.

The overall mission of VPM is the discovery and dissemination of knowledge to prevent, control, or eradicate disease; to promote sustainable agricultural productivity; and to enhance the health of animal and human populations. The mission incorporates each of the three components of teaching, research, and service. The teaching mission is the education of graduate, professional, and post-professional students as well as the provision of outreach education in effective disease control, prevention, and eradication strategies to meet current and future societal needs in veterinary medicine and public health. The research mission is the discovery of knowledge leading to the development of methods to prevent disease; insure agricultural sustainability, productivity, and efficiency; and, promote health in human and animal populations. The service mission is to provide professional expertise to assist in the decision-making processes of animal and human health professionals and commercial organizations, as well as local, state, national, and international organizations as they endeavor to promote the health of human and animal populations.

William J. A. Saville, DVM, PhD, Dipl ACVIM Chair Professor & Extension Veterinarian A184A Sisson Hall 1920 Coffey Road Columbus, OH 43210 Ph: (614) 292-1206 Fx: (614) 292-4142 E-mail: saville [dot] 4 [at] osu [dot] edu

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Policy Updates "Precision Medicine" Proposal Includes $215M for NIH, FDA, ONC

President Obamas Precision Medicine Initiative, which he unveiled on Jan. 30, will account for $215 million in his budget proposal. The funds will be divided between the National Institutes of Health (NIH), FDA and the Office of the National Coordinator for Health Information Technology (ONC), with the majority of the money being used for the development of a voluntary national research cohort. Read PMC's press release on the initiative Watch Obama's announcement of the initiative View the White House fact sheet

21st Century Cures Draft Tackles Device Review Pathways, Biomarkers Among other topics, the U.S. House Energy & Commerce Committee's recently released "21st Century Cures" draft bill tackles innovative device review pathways and biomarker qualification. Access a summary of the bill

Senate HELP Committee White Paper Explores FDA, NIH Processes The U.S. Senate Health, Education, Labor & Pensions (HELP) Committee's recent white paper explores how well FDA and the National Institutes of Health (NIH) processes support innovation. Download the white paper

In its response letter to FDA on the agency's proposed framework for regulating laboratory-developed tests (LDTs), PMC suggests that the agency publish draft guidance documents on risk classification and Clinical Laboratory Improvement Amendments (CLIA) harmonization alongside a second draft of the original framework documents. Download the Letter

PMC Joins Stakeholders for "Precision Medicine" Announcement PMC's Amy Miller joined stakeholders at the White House on Jan. 30 when Obama announced his "Precision Medicine Initiative." Watch the announcement

PMC Engages 21st Century Cures PMC advocates for additional draft guidance documents from FDA in this 21st Century Cures response letter. Download the letter

PMC Analysis: 20 Percent of 2014 Approvals Personalized Medicines A PMC analysis of FDA's 2014 novel new drug approvals shows that more than 20 percent were personalized medicines. Download the analysis

PMC Summarizes 2014 In this blog post, PMC's Amy Miller reflects on 2014, which she calls "the year of the patient." Read the post

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Personalized Medicine Coalition precision medicine

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Personalized Medicine

Articles

Personalized medicine has a vision to avoid a costly and prolonged trial and error approach that can leave the patient anguishing unnecessarily from side effects, while simultaneously losing precious time in the fight against the disease. As evidence of the benefits of personalized medicine continue to grow, a network of laws, policy, education, and clinical information is building around personalized medicine to support its use in the medical community.

Personalized medicine introduces new treatment protocols, which create the ability to use molecular tracking elements that signal the risk of disease on a genetic level. This alerts the medical community to its presence before clinical indications and symptoms appear. This healthcare strategy is focused on preventive medicine and intervention, rather than a reaction to highly developed stages of disease. Such a strategy intends to delay disease onset and help the patient avoid mounting healthcare costs.

The cost of healthcare in the United States is on an upward climb, which is highly unsustainable. Proponents of personalized medicine believe that by following the practice of personalized medicine and working it into the existing healthcare system, we as a nation can resolve many of the inefficiencies inherit therein. These inefficiencies, such as a dosing system based on trial and error, severe reactions to a drugs, reactive treatment, and poorly timed diagnoses are contributing to mounting healthcare costs.

There are specific examples that the pharmacogenic system of personalized medicine is generating tangible results. Authors of various studies exploring potential healthcare cost savings from using genetic testing estimated that the use of a genetic test to properly dose various pharmaceuticals could reduce overall healthcare costs.

The substantiation of the benefits of personalized medicine is accumulating rapidly, and the real world applications of this knowledge are beginning to take root as well. Three areas of technology are key to making personalized medicine a presence in our healthcare system. New tools to decode the human genome, large-scale studies that help link genetic variation to disease, and a healthcare information technology system that supports the integration of clinical data in addition to the research is spawned from, as well as the ability of physicians to track every aspect of patient care according to genetic and molecular profiles to facilitate tailoring of treatment.

In addition, technological advancements have enabled personalized medicine to be brought to the public through the use of personal genetic testing. The systems for sequencing DNA or checking for genetic variation are essential to progress in both research and doctor to patient applications. DNA microscopes borrow technology from circuit manufacturing, helping scientists detect hundreds of thousands of genetic variations on a single chip. They are instrumental in identifying which variations are associated with any given disease.

In the last five years, the number of changes in single DNA chemical building blocks of the genome, which can be examined in a 1 cm chip increased from 250,000 to 920,000. It is estimated that there are millions such variations in the human genome. There are many subfields that are being employed as possible tools in the study of personalized medicine. Genomics and Transcriptomics offer information on genetic variation as well as the level of gene expression. Metabolomics examines the small molecules that are the byproducts of chemical reactions within the human body. Proteomics examines the entire formation of proteins made by cells. These tools are very important because what was once thought to be a single disease characterized by a common set of physical signs, for instance, asthma or breast cancer and symptoms may be several distinct conditions, or it may be a single disease with a variety of handling options.

Those in favor of personalized medicine see a future in which each person, on the day of their birth, is provided with his full genomic sequence to place into a personal medical record. That information from a personal genome would then be used to allow physicians to develop a more proactive healthcare approach based on the patients susceptibility to different diseases. The reactions to pharmaceuticals and reactions to different types of medicine would be assisted with that information as well. Advances in genomic sequencing are clearly on an exponential curve, and many scientists believe that with the help of venture capital we will see a dollar amount applied on a genome in the coming years.

Within the past few years, a growing number of businesses have begun to offer direct to consumer genetic tests. These tests are designed to help individuals better understand their genetic predisposition for a given health condition. As supporting technology has become less exclusive, genomics companies have started on the track to offer consumers whole genome scanning and associated information on individual genetic predisposition for a wide-ranging list of conditions concurrently.

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Personalized Medicine - Articles

California sees opportunities in personalized medicine. Earlier this month, Governor Brown announced the creation of a two year initiative California Initiative to Advance Precision Medicine to begin building infrastructure and assembling resources necessary to advance precision medicine-orientated data, tools and applications. See California Launches Initiative to Advance Precision Medicine. Continue reading this entry

President Obamas precision medicine initiative earmarked over $200 million from his proposed 2016 budget to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the personalized information we need to keep ourselves and our families healthier.[1] The National Institutes of Health (NIH) and the National Cancer Institute (NCI) will be the major benefactors if the proposed budget for this initiative is approved. A recent article co-authored by Drs. Francis S. Collins and Harold Varmus, directors of the NIH and NCI, respectively, identifies precision medicines critical needs and discusses how the Presidents initiative will help accelerate progress toward a new era of precision medicine.[2] Continue reading this entry

23andMe is not a traditional diagnostics company. Rather than seeking to directly sell its services to health care professionals, 23andMe went straight to the consumer, offering genetic screening and analysis in a mail-order fashion. For ninety-nine dollars, customers only needed to send in a saliva sample and the company would analyze the customers genetic information, interpret and report the results directly to the consumer, bypassing the physician or genetic counselor. Continue reading this entry

Late last year, the USPTO issued its modified and revised 2014 Interim Guidance on Patent Subject Matter Eligibility (Interim Guidance) to assist patent examiners and the public in determining if a claim presented for examination is patent-eligible in view of recent U.S. Supreme Court decisions, namely Alice Corp., Myriad, and Mayo. In addition to streamlining the analysis of patent claims directed to any one of the judicial exceptions to patent-eligibility (abstract ideas, laws of nature and physical phenomena), the USPTO provided illustrative examples to be used in combination with the Interim Guidance. One such example discussed the patent-eligibility of claims directed to stem cells or regenerative medicine. Fortunatelyfor these industries, application of the Interim Guidance as discussed in the example finds that many stem cell technologies are patent-eligible. Continue reading this entry

Personalized medicine has a friend in high places. President Obama recently announced an initiative to support precision or personalized medicine. In very general terms, the President stated during his 2015 State of the Union address that he wanted the United States to lead a new era of medicine an era that delivers the right treatment at the right time. Continue reading this entry

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Personalized Medicine Bulletin Personalized Medicine ...

Ophthalmology is the branch of medicine that deals with the anatomy, physiology and diseases of the eye.[1] An ophthalmologist is a specialist in medical and surgical eye problems. Since ophthalmologists perform operations on eyes, they are both surgical and medical specialists. A multitude of diseases and conditions can be diagnosed from the eye.[2]

The word ophthalmology comes from the Greek roots , ophthalmos, i.e., "eye" and -o, -logia, i.e., "study of, discourse";[3][4] ophthalmology literally means "the science of eyes". As a discipline, it applies to animal eyes also, since the differences from human practice are surprisingly minor and are related mainly to differences in anatomy or prevalence, not differences in disease processes.[citation needed]

The Indian surgeon Sushruta wrote Sushruta Samhita in Sanskrit in about 800 BC which describes 76 ocular diseases (of these 51 surgical) as well as several ophthalmological surgical instruments and techniques.[5][6] His description of cataract surgery was more akin to extracapsular lens extraction than to couching.[7] He has been described as the first cataract surgeon.[8][9]

The pre-Hippocratics largely based their anatomical conceptions of the eye on speculation, rather than empiricism.[10] They recognized the sclera and transparent cornea running flushly as the outer coating of the eye, with an inner layer with pupil, and a fluid at the centre. It was believed, by Alcamaeon and others, that this fluid was the medium of vision and flowed from the eye to the brain by a tube. Aristotle advanced such ideas with empiricism. He dissected the eyes of animals, and discovering three layers (not two), found that the fluid was of a constant consistency with the lens forming (or congealing) after death, and the surrounding layers were seen to be juxtaposed. He and his contemporaries further put forth the existence of three tubes leading from the eye, not one. One tube from each eye met within the skull.

Rufus of Ephesus recognised a more modern eye, with conjunctiva, extending as a fourth epithelial layer over the eye.[11] Rufus was the first to recognise a two-chambered eye, with one chamber from cornea to lens (filled with water), the other from lens to retina (filled with an egg white-like substance). The Greek physician Galen remedied some mistakes including the curvature of the cornea and lens, the nature of the optic nerve, and the existence of a posterior chamber.

Though this model was a roughly correct modern model of the eye, it contained errors. Still, it was not advanced upon again until after Vesalius. A ciliary body was then discovered and the sclera, retina, choroid, and cornea were seen to meet at the same point. The two chambers were seen to hold the same fluid, as well as the lens being attached to the choroid. Galen continued the notion of a central canal, but he dissected the optic nerve and saw that it was solid. He mistakenly counted seven optical muscles, one too many. He also knew of the tear ducts.

Medieval Islamic Arabic and Persian scientists (unlike their classical predecessors) considered it normal to combine theory and practice, including the crafting of precise instruments, and therefore found it natural to combine the study of the eye with the practical application of that knowledge.[12]

Ibn al-Haytham (Alhazen), an Arab scientist with Islamic beliefs, wrote extensively on optics and the anatomy of the eye in his Book of Optics (1021).

Ibn al-Nafis, an Arabic native of Damascus, wrote a large textbook, The Polished Book on Experimental Ophthalmology, divided into two parts, On the Theory of Ophthalmology and Simple and Compounded Ophthalmic Drugs.[13]

In the 17th and 18th centuries, hand lenses were used by Malpighi, and microscopes by van Leeuwenhoek, preparations for fixing the eye for study by Ruysch, and later the freezing of the eye by Petit. This allowed for detailed study of the eye and an advanced model. Some mistakes persisted, such as: why the pupil changed size (seen to be vessels of the iris filling with blood), the existence of the posterior chamber, and of course the nature of the retina. In 1722, van Leeuwenhoek noted the existence of rods and cones,[citation needed] though they were not properly discovered until Gottfried Reinhold Treviranus in 1834 by use of a microscope.

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Ophthalmology - Wikipedia, the free encyclopedia

The Wilmer Eye Institute at Johns Hopkins, founded in 1925, is an internationally-renowned eye institution that specializes in the diagnosis and management of complex medical and surgical eye disease; and serves as a preeminent provider of routine eye care and refractive, optical, cosmetic, and eye trauma services for the Mid-Atlantic region. Wilmer is also recognized as a national leader in research and in the training of medical students, residents, fellows, and ophthalmic technicians. As the largest department of ophthalmology in the United States, the Wilmer Eye Institute has earned recognition for bringing together ophthalmologists and optometrists consistently regarded as being amongthe finest in the field.

On this website, we provide an overview of the Wilmer Eye Institute's various departments, care providers, and research activities. You will also find information on making appointments at Wilmer, along with directions to our multiple service locations.

Were connecting to improve your care. Johns Hopkins Medicine is implementing a new electronic medical record system that will help you be an active partner in your health care and improve the high-quality care you already receive. We appreciate your patience as we put this new system in place. For more information, visit http://www.hopkinsmedicine.org/myrecord.

If you need general assistance, please call the Wilmer Call Center at 410-955-5080, or toll free at 1-800-21JOHNS (1-800-215-6467)

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Wilmer Eye Institute - Johns Hopkins - Baltimore, Maryland

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Nanomedicine

The European Summit for Clinical Nanomedicine and Targeted Medicine - The Translation to Knowledge Based Nanomedicine

Eighth Conference And Exhibition, June 28 - July 1, 2015

Sunday, June 28, 2015 General Assembly of the European Society for Nanomedicine (15.30 h) Meeting of the International Society for Nanomedicine (16.30 h) Editorial Board Meeting, European Journal of Nanomedicine (18.00 h) Welcome Dinner for Speakers & invited Guests [19.45 Swisstel Le Plaza, 1st Floor]

Co-founded by the Swiss Confederation. Swiss Derpartment of Economic Affairs, Education and Research

Scientific Committee: Prof. Dr. med. Patrick Hunziker, University Hospital Basel (CH) (Chairman) Prof. Dr. Yechezkel Barenholz, Hebrew University, Hadassah Medical School, Jerusalem (IL) Dr. med. h.c. Beat Lffler, MA, European Foundation for Clinical Nanomedicine (CLINAM), Basel (CH) Prof. Dr. Gert Storm, Institute for Pharmaceutical Sciences, Utrecht University, (NL) Prof. Dr. Marisa Papaluca Amati, European Medicines Agency, London (GB) Prof. Dr. med. Janos Szebeni, Bay Zoltan Ltd and Semmelweis/Miskolc Universities, Budapest (HU) Prof. Dr. med. Christoph Alexiou, Head and Neck Surgery, University Hospital Erlangen (D) Prof. Dr. Claus-Michael Lehr, Helmholtz-Institute for Pharmaceutical Research Saarland (HIPS), Saarbrucken (D) Prof. Dr. Gerd Binnig, Founder of Definiens AG, Nobel Laureate, Munich (DE) Patrick Boisseau, CEA-Lti, Chairman of the ETPN, Grenoble (FR) Prof. Dr. Viola Vogel, Laboratory for Biologically Oriented Materials, ETH, Zrich (CH) Prof. Dr. Jan Mollenhauer, Director Lundbeckfonden Center of Excellence University of Southern Denmark, Odense (DK) Dr. Yanay Ofran, Systems Biology & Functional Genomics, Bar Ilan University, Ramat Gan (IL)

Conference Venue: Congress Center, Messeplatz 21, 4058 Basel, Switzerland, Phone + 41 58 206 28 28 This email address is being protected from spambots. You need JavaScript enabled to view it.

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Home [clinam.org]

Molecular genetics is the field of biology and genetics that studies the structure and function of genes at a molecular level. Molecular genetics employs the methods of genetics and molecular biology to elucidate molecular function and interactions among genes. It is so called to differentiate it from other sub fields of genetics such as ecological genetics and population genetics.

Along with determining the pattern of descendants, molecular genetics helps in understanding developmental biology, genetic mutations that can cause certain types of diseases. Through utilizing the methods of genetics and molecular biology, molecular genetics discovers the reasons why traits are carried on and how and why some may mutate.

One of the first tools available to molecular geneticists is the forward genetic screen. The aim of this technique is to identify mutations that produce a certain phenotype. A mutagen is very often used to accelerate this process. Once mutants have been isolated, the mutated genes can be molecularly identified.

Forward saturation genetics is a method for treating organisms with a mutagen, then screens the organism's offspring for particular phenotypes. This type of genetic screening is used to find and identify all the genes involved in a trait.[1]

While forward genetic screens are productive, a more straightforward approach is to simply determine the phenotype that results from mutating a given gene. This is called reverse genetics. In some organisms, such as yeast and mice, it is possible to induce the deletion of a particular gene, creating what's known as a gene "knockout" - the laboratory origin of so-called "knockout mice" for further study. In other words this process involves the creation of transgenic organisms that do not express a gene of interest. Alternative methods of reverse genetic research include the random induction of DNA deletions and subsequent selection for deletions in a gene of interest, as well as the application of RNA interference.

A mutation in a gene can result in a severe medical condition. A protein encoded by a mutated gene may malfunction and cells that rely on the protein might therefore fail to function properly. This can cause problems for specific tissues or organs, or for the entire body. This might manifest through the course of development (like a cleft palate) or as an abnormal response to stimuli (like a peanut allergy). Conditions related to gene mutations are called genetic disorders. One way to fix such a physiological problem is gene therapy. By adding a corrected copy of the gene, a functional form of the protein can be produced, and affected cells, tissues, and organs may work properly. As opposed to drug-based approaches, gene therapy repairs the underlying genetic defect.

One form of gene therapy is the process of treating or alleviating diseases by genetically modifying the cells of the affected person with a new gene that's functioning properly. When a human disease gene has been recognized molecular genetics tools can be used to explore the process of the gene in both its normal and mutant states. From there, geneticists engineer a new gene that is working correctly. Then the new gene is transferred either in vivo or ex vivo and the body begins to make proteins according to the instructions in that gene. Gene therapy has to be repeated several times for the infected patient to continually be relieved, however, as repeated cell division and cell death slowly randomizes the body's ratio of functional-to-mutant genes.

Currently, gene therapy is still being experimented with and products are not approved by the U.S. Food and Drug Administration. There have been several setbacks in the last 15 years that have restricted further developments in gene therapy. As there are unsuccessful attempts, there continue to be a growing number of successful gene therapy transfers which have furthered the research.

Major diseases that can be treated with gene therapy include viral infections, cancers, and inherited disorders, including immune system disorders.[citation needed]

Classical gene therapy is the approach which delivers genes, via a modified virus or "vector" to the appropriate target cells with a goal of attaining optimal expression of the new, introduced gene. Once inside the patient, the expressed genes are intended to produce a product that the patient lacks, kill diseased cells directly by producing a toxin, or activate the immune system to help the killing of diseased cells. [2]

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Molecular genetics - Wikipedia, the free encyclopedia

This article is about the general scientific term. For the scientific journal, see Genetics (journal).

Genetics is the study of genes, heredity, and genetic variation in living organisms.[1][2] It is generally considered a field of biology, but it intersects frequently with many of the life sciences and is strongly linked with the study of information systems.

The father of genetics is Gregor Mendel, a late 19th-century scientist and Augustinian friar. Mendel studied 'trait inheritance', patterns in the way traits were handed down from parents to offspring. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.

Trait inheritance and molecular inheritance mechanisms of genes are still a primary principle of genetics in the 21st century, but modern genetics has expanded beyond inheritance to studying the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance) and within the context of a population. Genetics has given rise to a number of sub-fields including epigenetics and population genetics. Organisms studied within the broad field span the domain of life, including bacteria, plants, animals, and humans.

Genetic processes work in combination with an organism's environment and experiences to influence development and behavior, often referred to as nature versus nurture. The intra- or extra-cellular environment of a cell or organism may switch gene transcription on or off. A classic example is two seeds of genetically identical corn, one placed in a temperate climate and one in an arid climate. While the average height of the two corn stalks may be genetically determined to be equal, the one in the arid climate only grows to half the height of the one in the temperate climate, due to lack of water and nutrients in its environment.

The word genetics stems from the Ancient Greek genetikos meaning "genitive"/"generative", which in turn derives from genesis meaning "origin".[3][4][5]

The modern working definition of a gene is a portion (or sequence) of DNA that codes for a known cellular function or process (e.g. the function "make melanin molecules"). A single 'gene' is most similar to a single 'word' in the English language. The nucleotides (molecules) that make up genes can be seen as 'letters' in the English language. Nucleotides are named according to which of the four nitrogenous bases they contain. The four bases are cytosine, guanine, adenine, and thymine. A single gene may have a small number of nucleotides or a large number of nucleotides, in the same way that a word may be small or large (e.g. 'cell' vs. 'electrophysiology'). A single gene often interacts with neighboring genes to produce a cellular function and can even be ineffectual without those neighboring genes. This can be seen in the same way that a 'word' may have meaning only in the context of a 'sentence.' A series of nucleotides can be put together without forming a gene (non coding regions of DNA), like a string of letters can be put together without forming a word (e.g. udkslk). Nonetheless, all words have letters, like all genes must have nucleotides.

A quick heuristic that is often used (but not always true) is "one gene, one protein" meaning a singular gene codes for a singular protein type in a cell (enzyme, transcription factor, etc.)

The sequence of nucleotides in a gene is read and translated by a cell to produce a chain of amino acids which in turn folds into a protein. The order of amino acids in a protein corresponds to the order of nucleotides in the gene. This relationship between nucleotide sequence and amino acid sequence is known as the genetic code. The amino acids in a protein determine how it folds into its unique three-dimensional shape, a structure that is ultimately responsible for the protein's function. Proteins carry out many of the functions needed for cells to live. A change to the DNA in a gene can alter a protein's amino acid sequence, thereby changing its shape and function and rendering the protein ineffective or even malignant (e.g. sickle cell anemia). Changes to genes are called mutations.

The observation that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding.[6] The modern science of genetics, seeking to understand this process, began with the work of Gregor Mendel in the mid-19th century.[7]

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Genetics - Wikipedia, the free encyclopedia

Welcome to the LongevityMap, a database of human genetic variants associated with longevity. Negative results are also included in the LongevityMap to provide visitors with as much information as possible regarding each gene and variant previously studied in context of longevity. As such, the LongevityMap serves as a repository of genetic association studies of longevity and reflects our current knowledge of the genetics of human longevity.

Searching the LongevityMap can be done by gene or genetic variant (e.g., refSNP number). You can enter one or more words from the gene's name or use the gene's HGNC symbol. Note that the search is case insensitive. It is also possible to search for a specific cytogenetic location but for this you need to tick the box below.

To search for a specific study in the LongevityMap, you may browse or search its literature:

You may download a zipped tab-delimited ASCII dataset with the raw data, derived from the latest stable build of the LongevityMap.

If you find an error or wish to propose a study or variant to be included in the database, please contact us. To receive the latest news and announcements, please join the HAGR-news mailing list.

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LongevityMap: Genetic association studies of longevity