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gene therapy : NPR

Posted: April 18, 2019 at 7:52 pm

gene therapy : NPR

gene therapy gene therapy

David Vetter, pictured in September 1982 inside part of the bubble environment that was his protective home until he died in 1984. Today most kids born with severe combined immunodeficiency are successfully treated with bone marrow transplants, but researchers think gene therapy is the future. AP hide caption

CRISPR and other gene technology is exciting, but shouldn't be seen as a panacea for treating illness linked to genetic mutations, says science columnist and author Carl Zimmer. It's still early days for the clinical applications of research. Westend61/Getty Images hide caption

Researchers used a gene-carrying virus to fix blood stem cells that were then used to treat patients with beta-thalassemia. Power and Syred/Science Photo Library/Getty Images hide caption

This Food and Drug Administration approved Luxturna, a gene therapy developed by Spark Therapeutics, to treat an inherited form of blindness. Courtesy of Spark Therapeutics via AP hide caption

A panel of experts has recommended that the Food and Drug Administration approve a treatment developed by Spark Therapeutics for a rare form of blindness. Spark Therapeutics hide caption

A British scientific panel has been reviewing treatments for mitochondrial disease that involve using material from two women and one man with the goal of producing a healthy baby. iStockphoto hide caption

David Vetter was born without a functioning immune system and spent his life in a bubble that protected him from germs. He died at age 12 in 1984. Scientists are using gene therapy to treat the disorder so that children can live normally. Science Source hide caption

Until now, scientists have had a tough time getting therapeutic genes to go where they need to go. iStockphoto.com hide caption

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gene therapy : NPR

Recommendation and review posted by G. Smith

Max Wiznitzer, MD, Pediatric Neurology, UH Cleveland …

Posted: April 18, 2019 at 7:51 pm

Dr. Max Wiznitzer is a graduate of Northwestern University School of Medicine. He trained in pediatrics and developmental disorders at Cincinnati Childrens Hospital and in pediatric neurology at Childrens Hospital of Philadelphia.

He then did a National Institutes of Health funded fellowship in disorders of higher cortical functioning in children at the Albert Einstein College of Medicine, Bronx, NY. Since 1986, he has been a pediatric neurologist at Rainbow Babies & Childrens Hospital in Cleveland. He is a professor of pediatrics and neurology at Case Western Reserve University.

Dr. Wiznitzer has a longstanding interest in neurodevelopmental disabilities, especially attention deficit hyperactivity disorder and autism, and has been involved in local, state and national committees and initiatives, including autism treatment research, Ohio autism service guidelines, autism screening, and early identification of developmental disabilities He is on the editorial board of Lancet Neurology and Journal of Child Neurology and the Professional Advisory Board of CHADD, the national ADHD advocacy organization, and lectures nationally and internationally about various neurodevelopmental disabilities.

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Max Wiznitzer, MD, Pediatric Neurology, UH Cleveland ...

Recommendation and review posted by G. Smith

Quest Diagnostics : Pharmacogenomics

Posted: April 18, 2019 at 7:50 pm

Quest Diagnostics offers one of the most comprehensive pharmacogenomics test panels available to help you gain insight into a patients potential response to medications and optimize their treatment considerations and outcomes. This includes information for over 280 drugs across 44 genes*. This full panel is particularly advantageous for patients on multiple medications who may otherwise require multiple panelsall at a low cost and coming from a company you trust to meet all of your lab needs.

The Pharmacogenomics Panel from Quest provides pharmacogenetic information for 44 genes, and reports information across multiple classes of medications:

Physicians receive test results in a comprehensive and easy to understand report that may include dosing guidelines from CPIC, FDA-approved labeling, and other pharmacogenomic consortia. Results can be utilized as a reference for your patients throughout their lifetime.

Order Pharmacogenomics PGx panel today.

The Quest Diagnostics Pharmacogenomics Panel is based on pertinent literature sources that may provide clinical insights to help inform treating physicians about a patients genetic attributes to help optimize patient treatment considerations and outcomes.**

Pharmacogenetics/pharmacogenomics is the study of how inherited genetic differences impact the way drugs or medications affect a person. These genetic differences can impact the way a drug is absorbed or metabolized and thereby influence drug response. Pharmacogenomic tests may provide information about a persons genetic makeup to help doctors decide which medications and doses might work best for him or her. Pharmacogenomic testing can also help reduce the time and costs associated with a trial-and-error approach to treatment.1

Avoiding adverse drug reactions can make a difference

The Quest Diagnostics comprehensive pharmacogenomics test panel (PGx) offers insights into patient potential responses to different medications and over 280 drugs.*

The panel may determine:

A Pharmacogenomics Panel may provide additional insights to:

*Pharmacogenomic information is not assessed for potential alternative medications. These data are provided as alternatives to consider based on information reported in the literature due to pharmacogenomic contraindications in other medications.

**Sources available upon request.

DNA will be extracted from the sample and tested for changes in multiple genes.

***The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Download PGx brochure.

Download PGx medication and gene list.

Download PGx Report guide.

Download Patient informed consent form.

Ordering steps

****Get copies of the paper Pharmacogenomics requisition from your Quest Diagnostics account manager.

The information provided herein and in the pharmacogenetics report is for physician consideration and each physician has to determine what is the best treatment for their patient based upon the physicians education, experience, and clinical assessment of the patient.

References

Link:
Quest Diagnostics : Pharmacogenomics

Recommendation and review posted by G. Smith

Pharmacogenomics | Cleveland Clinic

Posted: April 18, 2019 at 7:50 pm

Overview Overview

The Center for Personalized Genetic Healthcare (CPGH) offers comprehensive pharmacogenomics services to individuals who are not responding to medication regimens or who are experiencing adverse side effects.

CPGH offers pharmacogenomics counseling, which can be incorporated into your medical care.

Prior to requesting an appointment, you will need to obtain a referral from your physician. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a referral form and fax to 216.445.6935. To learn more about how to prepare for your appointment, review the "Before Your Visit" tab.

The Center for Personalized Genetic Healthcare (CPGH) is committed to providing comprehensive clinical genetic services, education and support to patients and family members. Our team of genetic experts will work with other Cleveland Clinic primary care providers and specialists to personalize your care by incorporating your genetic information into your overall health care plan.

You should consider having a pharmacogenomic evaluation if you have a personal history or have concerns about the following:

Contact your primary care provider or the Center for Personalized Genetic Healthcare (CPGH) to discuss whether a pharmacogenomics consultation is appropriate for you.

Prior to requesting an appointment, you will need to obtain a physician referral. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a referral form and fax to 216.445.6935.

If you are a patient outside the Cleveland Clinic health system, you should send an authorization for the release of medical records form to each external facility. You may arrange to have medical records faxed (30 pages or less) to our department at 216.445.6935 or sent postal mail.

Cleveland Clinic Center for Personalized Genetic Healthcare Attn: Pharmacogenomics Clinic 9500 Euclid Ave. NE50 Cleveland, OH 44195

To make the most out of your visit, you should gather medication and health history information prior to your appointment. It may be helpful for you to prepare a list of current and past medications. Specifically, you will want to consider the following:

We will provide personalized expert counseling and education to you and your family. During your visit, you will see a genetics expert (clinical geneticist) and a pharmacogenomics clinical specialist for a genetics evaluation. You may also be scheduled with other Cleveland Clinic providers during your visit depending on your medical needs and physician availability.

After your visit, it may take anywhere from a few days up to two weeks for your clinical appointment notes to reach the healthcare providers that you requested to receive a copy. We are also glad to communicate with your healthcare providers about your case as needed. You are always welcome to follow up with us with questions regarding your visit.

Genetics consult and testing are billed as two separate services.

If genetic testing is indicated, your genetics provider will discuss costs and insurance coverage during your appointment.

Some patients are concerned that their genetic information may be used against them. To learn about your patient rights and protections in place to prevent genetic discrimination, read this article on GINA.

To learn more about billing options and financial assistance, review our billing and insurance information.

Prior to requesting an appointment, you will need to obtain a referral from your physician. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a referral form and fax to 216.445.6935. To learn more about how to prepare for your appointment, review the "Before Your Visit" tab.

To schedule an appointment, please call 216.636.1768 or 800.998.4785.

T Building - Center for Personalized Genetic Healthcare9204 Euclid Ave.Cleveland , OH 44195

Link:
Pharmacogenomics | Cleveland Clinic

Recommendation and review posted by G. Smith

Lipid levels and the risk of hemorrhagic … – n.neurology.org

Posted: April 17, 2019 at 11:49 pm

Pamela M. Rist

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

Julie E. Buring

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

Paul M Ridker

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

Carlos S. Kase

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

Tobias Kurth

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

Kathryn M. Rexrode

From the Division of Preventive Medicine, Department of Medicine (P.M. Rist, J.E.B., P.M Ridker), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (C.S.K.), Emory University, Atlanta, GA; Institute of Public Health (T.K.), CharitUniversittsmedizin, Berlin, Germany; and Division of Women's Health, Department of Medicine (K.M.R.), Brigham and Women's Hospital, Boston, MA.

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Lipid levels and the risk of hemorrhagic ... - n.neurology.org

Recommendation and review posted by G. Smith

Second patient free of HIV after stem-cell therapy

Posted: April 17, 2019 at 12:49 am

A person with HIV seems to be free of the virus after receiving a stem-cell transplant that replaced their white blood cells with HIV-resistant versions. The patient is only the second person ever reported to have been cleared of the virus using this method. But researchers warn that it is too early to say that they have been cured.

The patient whose identity hasnt been disclosed was able to stop taking antiretroviral drugs, with no sign of the virus returning 18 months later. The stem-cell technique was first used a decade ago for Timothy Ray Brown, known as the Berlin patient, who is still free of the virus.

So far, the latest patient to receive the treatment is showing a response similar to Browns, says Andrew Freedman, a clinical infectious-disease physician at Cardiff University in the UK who was not involved in the study. Theres good reason to hope that it will have the same result, he says.

Like Brown, the latest patient also had a form of blood cancer that wasnt responding to chemotherapy. They required a bone-marrow transplant, in which their blood cells would be destroyed and replenished with stem cells transplanted from a healthy donor.

But rather than choosing just any suitable donor, the team led by Ravindra Gupta, an infectious-disease physician at the University of Cambridge, UK picked a donor who had two copies of a mutation in the CCR5 gene that gives people resistance to HIV infection. This gene codes for a receptor which sits on the surface of white blood cells involved in the bodys immune response. Normally, the HIV binds to these receptors and attacks the cells, but a deletion in the CCR5 gene stops the receptors from functioning properly. About 1% of people of European descent have two copies of this mutation and are resistant to HIV infection.

Guptas team describes the results in a paper due to be published in Nature on 5 March. The researchers report that the transplant successfully replaced the patients white blood cells with the HIV-resistant variant. Cells circulating in the patients blood stopped expressing the CCR5 receptor, and in the lab, the researchers were unable to re-infect these cells with the patients version of HIV.

The team found that the virus completely disappeared from the patients blood after the transplant. After 16 months, the patient stopped taking antiretroviral drugs, the standard treatment for HIV. In the latest follow-up, 18 months after stopping medication, there was still no sign of the virus.

Gupta says that its not yet possible to say whether the patient has been cured. This can only be demonstrated if the patients blood remains HIV free for longer, he says.

But the study does suggest that Browns successful treatment ten years ago wasnt just a one-off. Gupta says that the latest patient received a less aggressive treatment than Brown to prepare for the transplant. The new patient was given a regimen consisting of chemotherapy alongside a drug that targets cancerous cells, while Brown received radiotherapy across his entire body in addition to a chemotherapy drug.

This suggests that, to be successful, stem-cell transplants in HIV patients would not necessarily need to be accompanied by aggressive treatments that might have particularly severe side effects, says Gupta. The radiation really does knock the bone marrow and make you very sick.

Graham Cooke, a clinical researcher at Imperial College London, points out that this kind of treatment wouldnt be suitable for most people with HIV who dont have cancer and so dont need a bone-marrow transplant, which is a serious procedure that can sometimes have fatal complications. If youre well, the risk of having a bone-marrow transplant is far greater than the risk of staying on tablets every day, he says. Most people with HIV respond well to daily antiretroviral treatment.

But Cooke adds that for those who need a transplant to treat leukaemia or other diseases, it seems reasonable to try and find a donor with the CCR5 mutation, which wouldnt add any risk to the procedure.

Gero Htter, who led Browns treatment and is now medical director of the stem-cell company Cellex in Dresden, Germany, agrees that this kind of treatment could only ever be used for a small group of patients. But he hopes that the paper will stimulate a renewed interest in gene therapies that target CCR5, which could be applied to a much broader group. The real breakthrough, we are still waiting for, he says.

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Second patient free of HIV after stem-cell therapy

Recommendation and review posted by G. Smith


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