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CRISPR Edits Genome of Human Embryos – Alzforum

Posted: August 11, 2017 at 6:45 am

04 Aug 2017

Scientists have used the CRISPR-Cas9 precision gene-editing system to snip a disease-causing mutation right out of viable human embryos. They did so without accidentally cutting DNA elsewhere, or inducing a heretofore common problem with editing human DNA known as mosaicism, where embryos end up with a mix of edited and unedited cells. Further improvements will be needed before any embryos are implanted for pregnancy, but the research offers hope that this and some other autosomal-dominant mutations can be erased from futuregenerations.

The August 3 Nature paper was led by an international team of researchers, including Paula Amato, Sanjiv Kaul, and Shoukhrat Mitalipov of Oregon Health and Science University, Portland, along with Juan Carlos Izpisua Belmonte from the Salk Institute for Biological Studies, La Jolla, California, and Jin-Soo Kim at the Institute for Basic Science, Daejeon, Republic of Korea. The news made headlines across the news media (see, e.g., The New York Times;The Atlantic; and Wired).

Two days after fertilization and injection with CRISPR-Cas9, early embryos grow without a disease-causing mutation. The embryos were not implanted. [Courtesy ofOHSU.]

This study is paving the way to CRISPRCas9 reaching the clinic in the future, wrote Nerges Winblad and Fredrik Lanner at Karolinska University Hospital, Stockholm, in an accompanying News and Views. They added that although the technique is promising, further studies and optimization will be needed before it is considered safe for therapy. The authors readilyagree.

The study has direct implications for familial Alzheimers disease, but we are not ready for prime-time use of CRISPR in AD, said Murali Doraiswamy, Duke University, Durham, North Carolina, who was not involved in the study.Other AD and amyotrophic lateral sclerosis (ALS) experts echoed the caution, saying the technique is promising for autosomal-dominant neurodegenerative disorders, but limited at the moment (see image above). For starters, the Alzforum mutations database lists about 320 different pathogenic mutations in APP, PS-1, PS-2, and tau known to cause dominantly inherited AD or other tauopathies, respectively. Scientists would have to target each one and study how well CRISPR repairs it. Pouring a bit more cold water on any excitement that may be heating up in the AD community, the authors themselves note that correcting point mutations, which make up a large majority of those that cause neurodegenerative diseases, is hard with the currenttechnology.

To inform public debate about the ethics of editing germline DNA, the American Society of Human Genetics issued a position statement timed to the appearance of thispaper.

Editing the Human GenomeSince its discovery in 2013, CRISPR-Cas9 has taken the research community by storm (Sep 2014 news series).Based on a bacterial defense system, this DNA-cutting technology directs a Cas9 enzyme to a particular spot on the genome using a matching guide RNA and creates a double-strand break there. The break is fixed either by non-homologous end joining (NHEJ), which introduces random insertions and deletions to turn off the gene, or by homology-directed repair (HDR), which uses a new piece of DNAusually introduced along with CRISPRas a template to insert a new sequence. CRISPR has been used three times before to edit germline DNA in human embryos (see Liang et al., 2015; Kang et al., 2016; Tang et al., 2017). Two of those studies used nonviable embryos; all three saw extensivemosaicism.

In the present study, first authors Hong Ma and Nuria Marti-Gutierrez at OHSU, Sang-Wook Park in Daejeon, and Jun Wu at the Salk wanted to see if CRISPR-Cas9 could correct a pathogenic mutation in viable human embryos without causing mosaicism. They reasoned that this could improve preimplantation genetic diagnosis (PGD), an extension of in vitro fertilization that doctors already use in rare cases to ensure that parents who carry dominant mutations have healthy children. With PDG, doctors test whether fertilized embryos have a genetic mutation, such as those for familial Alzheimers or Huntingtons disease, then implant only unaffected ones (July 2014 news series). What if affected embryos could be repaired to become implantable? That could reduce the number of rounds of in vitro fertilization cycles women have to endure before getting pregnant with an unaffected baby, Amato said at a pressbriefing.

To see if it was possible, the researchers chose to work on the gene encoding cardiac myosin-binding protein C. Mutations in MYBPC3 are a common cause of autosomal-dominant hypertrophic cardiomyopathy. In this disease, the heart muscles thicken, often unbeknownst to the victim, and can result in sudden death, most prominently in athletes. As in dominantly inherited AD and certain tauopathies, a single copy of the mutated allele suffices to causedisease.

A man with hypertrophic cardiomyopathy served as a donor in the experiments. The researchers derived induced pluripotent stem cells from his fibroblasts, used them to ascertain his exact mutation, then developed a guide RNA to match, and created a single-stranded oligodeoxynucleotide (ssODN) to serve as a corrected template for HDR. The CRISPR-Cas9 system they came up with cut DNA in 27 percent of the iPSCs grown in culture. About 40 percent of those were repaired by HDR and the ssODN, while NHEJ took care of therest.

The researchers then used the patients sperm to fertilize eggs from 12 healthy egg donors, simultaneously injecting the CRISPR-Cas9 complex and the ssODN into half of the eggs. After three days, they tested each cell in every embryo to learn how many had two copies of the wild-type allele. About half of the untreated controls were homozygous for the wild-type allele, as would be expected in ordinary PGD. By contrast, 72 percent of the treated embryos had a double wild-type allele; this meant some of the affected ones had been repaired by HDR. The remaining 16 treated embryos showed signs of NHEJ, which is unhelpful for gene editing. Allowed to grow for five days, the embryos developed as they normallywould.

Exploring the mechanism of repair yielded a surprise. These human embryos almost always used the wild-type strand on the healthy allele to guide the repair, rather than the introduced ssODN. In mice, its the opposite, where embryos more frequently use the ssODN as a template in HDR (Wu et al., 2013). The scientists could tell the difference because the ssODN included unique nucleotides that distinguished it from wild-type. This suggests humans and mice use different repair mechanisms in their embryos. The embryos mechanisms also appear to differ from iPSCs, which tended to use the ssODN forHDR.

Importantly, the researchers found that injecting the CRISPR-Cas9 complex at the same time as the sperm prevented mosaicism almost completely. They guessed that doing so ensured the gene editing would occur before the first division. By contrast, if CRISPR is injected even a short while after fertilization, it may operate after the zygote has already started dividing, correcting the mutation in only a subset of cells (see imagebelow).

Mosaic Work-Around: CRISPR injected after fertilization operates after the first division and results in a subset of cells being fixed. Injecting CRISPR and sperm together ensures that repair occurs before the zygote has time to split. [Courtesy of Winblad and Lanner,Nature.]

Lastly, the authors scoured the rest of the embryos genes with whole-genome and exome sequencing, finding no evidence that the CRISPR complex had cut anywhere else. These off-target cleavages have been a big concern withCRISPR-Cas9.

Much work remains to be done before researchers can implant these embryos to result in pregnancy. For example, the technique needs to approach 100 percent efficiency, said Mitalipov. He plans to try small molecules that downregulate NHEJ and upregulate HDR, but needs to study whether embryos exposed to those compounds develop normally. Once such safety data is in hand, regulators will decide whether researchers can go ahead with clinical trials, Mitalipovsaid.

For now, the National Institutes of Healthdoes not support research on gene editing in human embryos. Neither can the Food and Drug Administration consider clinical trials that deal with germline genetic modification. A 2017 reportby the U.S National Academy of Sciences and National Academy of Medicine stipulated that germline gene editing should only happen in cases where there are no reasonable alternatives, such as PGD. Mitalipov hopes committees will loosen their restrictions once they see more evidence that the problems of mosaicism and off-target DNA changes have beensolved.

Coinciding with Mitalipovs paper, the American Society of Human Genetics released a statement saying that it is too early to perform germline editing that will result in pregnancy in people (Ormond et al., 2017). Ten other international organizations are part of the report, including the National Society of Genetic Counselors, the Human Genetics Society of Australasia, the Southern African Society for Human Genetics, and the Asia Pacific Society of Human Genetics. However, the groups consensus supports germline genome editing research, with appropriate oversight and consent, that explores the relevant questions. Importantly, it supports public funding for suchresearch.

What About Neurodegenerative Disease?Will this technique work for other autosomal-dominant mutations? Eventually, yes, said Mitalipov, citing the breast and ovarian cancer mutations BRCA1 and 2 as examples. The specificity of CRISPR-Cas9 will depend on each individual mutation and the donors genetic background. Off-target effects likely will be more common for mutations that look similar to their wild-typealleles.

Kim cautioned that single nucleotide mutations are more challenging to correct than larger insertions or deletions such as the one targeted in this paper. Since the error in single base pair substitutions is so small in size, it will be difficult for Cas9 to home in on the mutant allele. This pertains in particular to neurodegeneration. The report provides some clear translatability to many autosomal dominant Alzheimers disease (ADAD) mutations, wrote Eric McDade, Washington University School of Medicine in St. Louis, to Alzforum. However, the mutation that was the focus of this research was a deletion, and most ADAD-causing mutations are single base pair substitutions. (See McDades full commentbelow.)

What about other neurodegenerative diseases? This new success could be relevant for dominantly inherited ALS and FTD, wrote Ronald Klein, LSU Health Sciences Center-Shreveport, to Alzforum. Between 10 and 20 percent of ALS and FTD cases are considered to be heritable, and most of the underlying mutations are dominant, Klein said. Of those, it might be promising to explore gene editing for C9ORF72 hexanucleotide repeats; also for ALS mutations in the genes NEK1, SOD1, TDP-43, FUS, and others; as well as FTD mutations in tau, progranulin, VCP, CHMP2B and other genes. As in Alzheimers, however, most ALS and FTD mutations are single nucleotide substitutions, Klein cautioned. Removing extra stretches of disease-causing repeats by CRISPR-Cas9 might work better, heagreed.

Not many ADAD families know about DNA repair with CRISPR just yet; however, McDade says he expects interest to grow in the near future, and Mitalipovs paper is already being posted on private familial AD discussion groups. If the procedure becomes more efficient, less expensive, and is proven in models to lead to normal development, it will become more attractive, he said. Some families with ADAD mutations are using IVF/PGDalready.

On the other hand, Ammar Al-Chalabi, Kings College London, who studies the human genetics of ALS, pointed out that PGD is simpler and still comes up with about half the embryos being healthy. Merit Cudkowicz, Massachusetts General Hospital, Boston, noted that if some of the allele-specific oligonucleotide (ASO) and gene therapies for ALS that are already going into people in clinical trials are effective, then families and clinicians may not need advanced PGD approaches employingCRISPR-Cas9.

This paper is an important milestone in using CRISPR for genome editing of familial disease mutations in the germline, said Martin Kampmann, University of California, San Francisco. Ahmet Yildiz, University of California at Berkeley, agreed. This technique has great power to repair genetic diseases, and I believe we have to make the best use of it for health, he said. Both Kampmann and Yildiz emphasized that ethical and safety standards have to be developed before this technology can be applied topatients.

For safety, limiting off-target cleavage by Cas9 will be critical. On this front, Yildiz, working with CRISPR-Cas9 co-discoverer Jennifer Doudna, also at Berkeley, on August 4 described in Science Advances why CRISPR-Cas9 cuts at specific target sequences in the genome, and where the tendency for off-target binding comes from. First authors Yavuz Dagdas and Janice Chen found that Cas9s cutting region, the HNH domain, takes one conformation when it binds its guide RNA, and another when it cleaves DNA. It passes through a checkpoint intermediate to get from point A to point B, and has to break free of that intermediate before it can adopt its cleaving form. If CRISPR-Cas9 binds DNA with more than three mismatches to its guide RNA, the HNH domain cannot overcome this energy hump to cut. Our work explains why Cas9 binds to many off-target sites but cleaves only a subset of them, Yildiz wrote toAlzforum.

One way to improve that accuracy would be to adjust the guide RNA. While Cas9 with a guide RNA of 20 nucleotides tolerates several mismatches on the DNA, one with 17 is more sensitive to them, and so binds fewer off-target sequences. Scientists are also engineering Cas9 to make it more specific. While these approaches significantly reduce off-target editing, none of them can fully eliminate cleavage of off-targets with a single mismatch at the moment, Yildiz said. He agreed that variations of just a single base pair may not be trivial to edit with the current CRISPR technology.Gwyneth DickeyZakaib

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Our Integrative Medicine Experts

Posted: August 11, 2017 at 6:44 am

Ronald Glick, MDMedical Director

Dr. Ronald Glick is medical director of UPMC Center for Integrative Medicine. His training is in psychiatry, physical medicine and rehabilitation, and pain management. Dr. Glick is involved in research on acupuncture and prolotherapy a musculoskeletal injection technique. His clinical practice focuses on integrative approaches to chronic pain management and integrative psychiatry.

Neal Ryan, MDDirector

Dr. Neal Ryan is director of the UPMC Center for Integrative Medicine and the Joaquim Puig-Antich Professor in Child and Adolescent Psychiatry. Dr. Ryan's clinical and research work has involved the study of depression, bipolar disorder, and anxiety in children and adolescents, and chronic disorders in which stress and environmental factors play an important role. He also has a strong background in medical education.

Sari Cohen, NDNaturopathic and Nutritional Counselor

Sari Cohen, ND, obtained her doctorate in naturopathic medicine from the Southwest College of Naturopathic Medicine. She has undergraduate degree in Hebrew and Judaic Studies from Dartmouth College. Ms. Cohen provides naturopathic care at the UPMC Center for Integrative Medicine in Shadyside, Pennsylvania to people of all ages with both acute and chronic diseases. The naturopathic modalities used include nutrition, botanical medicine, and nutritional supplementation. She is an adjunct professor in the Integrative Health Studies at Chatham University, in Pittsburgh. Ms. Cohen founded a naturopathic clinic with four colleagues in New Hampshire. She is the author of an article, "Melatonin, Menstruation and the Moon," that was published in The Townsend Letter for Doctors and Patients.

James Donnelly, MAPsychotherapist

James Donnelly has more than 20 years of experience as a psychotherapist. His practice focuses on individuals who are experiencing health or emotional problems as a result of childhood abuse or neglect or posttraumatic stress symptoms occurring in adulthood. He uses Eye Movement Desensitization and Reprocessing (EMDR), cardiac coherence training, Gestalt therapy, and cognitive behavioral therapy.

Gywnn Goldring, MSWPsychotherapist

Dinnie Goldring is a psychotherapist who works with individuals, couples, and families. Her work is based on a holistic perspective that incorporates mind, body, and spirit. Treatment specialty areas include pregnancy and postpartum related issues, living with an auto-immune disorder and other chronic illness, relationship issues, general depression, anxiety, and personality disorders. Ms. Goldring uses a psychodynamically based approach that integrates Gestalt therapy and mindfulness and she uses her past experience -- serving as a midwife in many cultures -- in the therapy process. She also leads the group, Mindfulness-Based Anxiety Reduction."

Carol Greco, PhDAssociateProfessor of Psychiatry

Dr. Carol Greco has more than 20 years of clinical experience and has worked in research for more than 20 years at the University of Pittsburgh. Her areas of research include Mindfulness Meditation, Mindfulness-Based Stress Reduction (MBSR), psychological approaches to pain management, mind-body and cognitive-behavioral therapy approaches to health and disease, and developing patient-reported measures of the nonspecific, contextual factors in treatment that can promote healing. Dr. Greco's clinical work focuses on mindfulness meditation and behavioral medicine approaches to pain and stress management. She is a Certified Mindfulness-Based Stress Reduction (MBSR) instructor and has taught the Center's MBSR program for over 12 years.

Deborah Grice Conway, PhDPsychotherapist

Deborah Grice Conway has more than 25 years of clinical experience as a psychotherapist, treating depression, anxiety disorders, trauma, and health conditions exacerbated by stress. Her work is based on a holistic perspective that incorporates the mind, body, and spirit, and focuses on the client's strengths. Treatment specialties include medical hypnosis, cardiac coherence biofeedback, Eye Movement Desensitization Reprocessing (EMDR), cognitive behavioral therapy, Emotional Freedom Techniques (EFT) and mindfulness techniques. In addition to her work at the center, Dr. Conway is also a clinical instructor at the University of Pittsburgh School of Medicine, a Professor of Psychology at the Community College of Allegheny County, and an adjunct faculty member in Chatham Universitys Integrative Health Sciences program, where she teaches Mind-Body Medicine. She is a core faculty member and meditation instructor at the Omega Institute for Holistic Studies in Rhinebeck, NY.

Kerry HarlingAyurveda Practitioner, Yoga Teacher, and Ayurvedic Marma Therapist

Kerry practices Ayurveda, a refined system of mind body medicine, in the northeast region. Kerry has helped hundreds of people with health issues regain health and harmony. She is known as a dedicated, gifted and astute healer within the patient community. Years of experience have given her a deep and keen understanding of the elemental metabolic constitutions and their imbalances in people. Her compassion, skills in listening and observation, added with her expertise in the art of Ayurvedic pulse reading, make her an intuitive and collaborative healer. She loves what she does and works closely with all her clients. Her practice has taught her that Ayurvedic treatments, based on the science of life, work to support patients to heal in a very gentle ways that patients come to embrace as a way of being. Her clients often come with anxiety, insomnia, weight problems, hormonal imbalances, digestive issues, chronic fatigue, joint pain, ADD or simply want to learn preventative everyday health. Clients leave with a renewed sense of hope, vitality, and energy. Kerry is certified with the National Ayurveda Medical Association as an Ayurveda Practitioner and with Yoga Alliance as a Yoga Teacher.

Karl Holtzer, MD, MS

Dr. Karl Holtzer is a pediatrician by training, who has extended his practice to adults. He has a masters degree in nutrition. He specializes in functional medicine, which offers a unique approach to the management of individuals with chronic health problems. He appreciates the opportunity to dig deeper and identify root causes. His approach centers on helping people make changes in their diet and health behaviors.

Brittany Kail, BSBAAdministrative Manager

Brittany Kail has over 14 years of customer service which includes 8 years working as an Office Manager for Mercy Behavioral Health, managing their busiest outpatient site. At the Center for Integrative Medicine, she is the Administrative Manager, directing a program of over 25 staff members.

John Laird, NDNaturopathic and Nutritional Counselor

John Laird provides services in naturopathic counseling. He received a degree in anthropology at Franklin and Marshall College in Lancaster, Pennsylvania. Mr. Laird is a graduate of the John Bastyr College of Naturopathic Medicine in Seattle, Washington, and completed an internship at the Government College of Ayurvedic Medicine in Mysore, India.

Jessie Violet Larson, LMTLicensed Medical Massage Therapist

Jessie Violet Larson is a licensed medical massage therapist with advanced training in anatomy and pathology. She is a graduate of the Advanced Medical Program at the School of Massage Therapy. She enthusiastically continues her lifelong path of education with a focus on better assisting those living with cancer. In her travels, she has studied healing therapies from around the world which she incorporates into every massage session to individually suit each client. Ms. Larson is a dedicated therapist and Reiki Master who brings with her years of experience and a love for her work.

David Lesondak, BCSI, KMI, LMT, SSTStructural Integrator, Myofascial Specialist

David Lesondak is a structural integrator and has been in private practice in the greater Pittsburgh area since 1992. His main area of interest is applying myofascial approaches to provide lasting relief from pain and to improve performance. He did his formative training at Kinesis in Maine, where he went on to serve for five years as an associate faculty member and media consultant. With "Anatomy Trains" author, Tom Myers, he published, "Anatomy Trains Revealed," a DVD exploring fascial anatomy. David's video skills andinterest in the emerging science of fascia have led to other projects including the Third International Fascia Research Congress and a relationship with the Fascia Research Project at the University of Ulm, Germany. David also lectures and teaches internationally.

Daniel Shawn Miller, DCChiropractor

Dr. Daniel Shawn Miller provides chiropractic services. He received his doctor of chiropractic degree at Palmer College and has been practicing for more than 15 years.

Kate ShermanShiatsu Practitioner

Kate Sherman provides Shiatsu treatments and teaches classes on shiatsu and wellness at the Center for Integrative Medicine. Shiatsu developed in Japan and stems from ancient Chinese Medicine. This touch therapy has been called 'acupuncture without needles' and is as effective in relieving a wide variety of complaints. Kate has been in practice since 2007. She has a Master's Degree from Chatham University in Counseling Psychology and is a Licensed Professional Counselor.

Erin Simon, CMT, LLCMassage Therapist

Erin Simon has practiced therapeutic massage since 1992. Her main focus and passion is Lymph Drainage Therapy and education for lymphedema management. Erin also has advanced training in Craniosacral Therapy in both Upledger and Biodynamic techniques. Erin is educated in a number of other modalities as well; including Pregnancy and Post-Partum Massage, Healing Stone Massage, Dolphin Micro-Current Point Stimulation, Kinesiotape, and Swedish. Erin brings a unique blend of therapies, her background as a dancer and athlete and her commitment to helping each individual achieve their best health to each session.

Tricia Smith, LAcAcupuncturist

Tricia Smith, LAc, provides acupuncture at the Center for Integrative Medicine. She works with pain management and specializes in the use of acupuncture treatment of myofascial trigger points. In addition, she works with patients whose conditions include sleep disturbance and hormonal problems. She is board-certified in acupuncture by the National Certification Commission of Acupuncture and Oriental Medicine.

K.K. Teh, LAc, MAcAcupuncturist

K.K. Teh provides acupuncture services at the center. He has master's degrees in acupuncture and Chinese medicine and psychology. His practice interests include pain management, sports medicine, general health problems, and stress-related conditions. He uses a balance method, which includes treating certain conditions with fewer needles. Mr. Teh is board-certified in acupuncture by the National Certification Commission of Acupuncture and Oriental Medicine.

Alicja W. Walczak, MSBiofeedback Practitioner and Movement Therapy Instructor

Alicja Walczak provides cardiac coherence training, biofeedback, synergistic body-mind therapy, and movement therapy. She has a degree in exercise physiology with an emphasis on relaxation and biofeedback from the University of Pittsburgh. Additionally, Ms. Walczak completed training with Ilana Rubenfeld and her Institute in Rubenfeld Synergy. Ms. Walczak also teaches yoga classes at the center.

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Cardea Health will combine its offices into new East Aurora location – Buffalo News

Posted: August 11, 2017 at 6:44 am

One of the largest wellness practices in Western New York announced it will close its offices in Cheektowaga and Dunkirk to create a destination wellness center for integrative health care in East Aurora.

Cardea Health Integrative plans to open its new site on East Main Street in early October.

It has been a long-standing dream of ours to be able to improve the delivery of services for our clients, and in our new East Aurora facility we achieve that vision, said Jennifer Jennings, president of Cardea Health. The word integrative, in our company name and our delivery of health care services, means bringing parts together as a whole. In our new home, were creating a more inclusive, holistic environment for our clients, adding services that we simply didnt have the space to offer before and a natural, healing environment that will make it seem like home to them, as well.

Some of the offerings at the new facility will include ozone sauna and pulsed electromagnetic field therapies, as well as an expanded IV vitamin and supplement program, including upgraded IV stations with zero-gravity recliners.

Creative Wellness a wellness center that includes massage therapy, chiropractic and doula services, as well as yoga and meditation opened in East Aurora earlier this year.

Nursing specialist taps into holistic medicine

Integrative medicine offers patients a healing-centered model focused on shared decision-making, Jennings said in a news release.

Integrative medicine is the future paradigm for holistic health care: the cornerstone of which is preventive medicine, with the focus on identifying the root cause of disease or symptomatology, Jennings said. Patients today are more educated than ever before, and desire to be a partner in their healthcare decisions looking for a patient-centered relationship, where they are well-informed on decisions and treatment options.

Our new facility is designed to service patients seeking more personalized and pro-active control over their health care. Offerings at the new facility will include ozone sauna and pulsed electromagnetic field therapies, as well as an expanded IV vitamin and supplement program that will feature upgraded IV stations with zero-gravity recliners.

Jennings is a former level one trauma and neurosurgical critical care nurse, and an assistant professor at DYouville College and the University at Buffalo. She has a family nurse practitioner doctorate degree from Robert Morris University. She is an assistant professor of nursing and health studies at Georgetown University, teaching dozens of other health professionals online courses from Western New York on complex, chronic disease management. She has worked for more than four years at the preventative and wellness clinic started by Dr. Robert Barnes at 2470 Walden Ave., Cheektowaga, and bought the practice from the semiretired osteopathic physician in 2015, creating a new name and website, cardeahealthwny.com.

email: refresh@buffnews.com

Twitter: @BNrefresh

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Government Will Form A National Policy On Integrative Medicine – Doctor NDTV

Posted: August 11, 2017 at 6:44 am

Dr. Rajesh Kotecha, Special Secretary, Union Ministry of AYUSH said that the government is ready to extend its support for attempts at building an integrative medicine. He inaugurated the international conference on integrative Ayurveda and modern medicine at the Amrita Institute of Medical Sciences at Kochi on Sunday.

Ayurveda and integrative medicine

Dr. Rajesh Kotecha said "The Government is serious about promoting a model where experts in different domains contribute to the health science and some migration of knowledge occurs between each stream. Indian healing systems are holistic and intuitive - by definition; they cannot fully fit into all parameters demanded by Western medicine."

He added that the government is setting up a nationwide AYUSH grid connecting all hospitals and research labs to record case histories and observations so that a huge amount of evidences can be generated through data analytics about the efficacy of Ayurveda.

"While robust research is being conducted into Ayurveda, the problem arises in implementation of integrative medicine at the level of public health. This is because Ayurveda is still not accepted as a science by the Allopathic community. The Government of India has decided to extend its full support to Amrita University's initiative on integrative medicine," Dr Rajesh Kotecha said.

Experts who were assembled at the conference said that the central government needs to formulate a national policy on the integration of Ayurveda with allopathy do that the country can take its rightful place as the global leader in integrative medicine. There were 60 experts and 1,000 delegates participating from around the world . It was a two-day event called Amrita Samyogam, held in collaboration with Amrita University's School of Ayurveda.

The conference was brought together by allopathic doctors, Ayurveda practitioners and modern scientists on a common platform to identify strategies for integrating Ayurveda with allopathy to manage cancer, auto-immune diseases like arthritis and diabetes, neuro-degenerative diseases and mental health.

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New chief of palliative care at Exeter Health Resources – News … – Seacoastonline.com

Posted: August 11, 2017 at 6:44 am

EXETER Suzana Makowski, MD, MMM has joined Exeter Health Resources as the chief of palliative care services. In this role, she will oversee the provision of palliative care throughout Exeter Health Resources, across the continuum of care including patients admitted to Exeter Hospital, in the hospitals clinics especially the Center for Cancer Care, and patients at home or in the community receiving services from Rockingham Visiting Nurse Association & Hospice.

Palliative care is a medical specialty with expertise in helping patients be as well as possible while living with serious illness. Dr. Makowski will work with the palliative care team to address the complex physical, emotional, social and spiritual needs of patients going through a serious illness, while supporting the needs of their family and close friends. The team includes physicians, nurse practitioners and nurses, chaplains, and social workers.

Dr. Makowski completed her undergraduate studies at Bowdoin College in Brunswick, Maine, and post-baccalaureate certificate at Bryn Mawr College in Bryn Mawr, PA. She received her MD at the University of Rochester in Rochester, New York, and her masters in Medical Management at the University of Southern California Marshall School of Business in Los Angeles, California. She completed a fellowship in integrative medicine at University of Michigan in Ann Arbor, Michigan, and a fellowship in hospice & palliative medicine at San Diego Hospice & Palliative Care in San Diego, California.

Dr. Makowski also has additional experience and training in leadership and management. She has a Green Belt in Lean Quality Improvement, is a Certified Physician Executive with a Masters in Medical Management, and was honored with the prestigious Leonard Tow Award, from the Gold Humanism Honor Society, for both clinical excellence and outstanding compassion in the delivery of care and for showing respect for patients, their families, and healthcare colleagues.

Healing can occur at all stages of life, even when there is no cure, said Dr. Makowski. I see my role as one that helps patients and their families live as well as possible for as long as possible, crafting healthcare around what matters most to the person, while carefully tending to their symptoms and medical history.

For more information about Exeter Hospital or Rockingham Visiting Nurse Association & Hospice, visit exeterhospital.com or rockinghamvna.org.

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Cancer survivors seek physical, emotional healing | News, Sports … – Maui News

Posted: August 11, 2017 at 6:44 am

Dr. Bridget Bongaard (center) talks story with Annie Joya of the Pacific Cancer Foundation and licensed practical nurse Shirley Ramey after the close of the Maui Cancer and Wellness Retreat on Sunday. Bongaard envisioned the retreat, which took place over the weekend at Lumeria in Makawao. Activities were inspired by integrative medicine, which combines traditional Western medicine with holistic practices for physical and emotional healing. The Maui News / COLLEEN UECHI photo

MAKAWAO Since 2008, Christy Kozama has been living the dream, working as a marine naturalist in West Maui and soaking up the islands natural beauty with her husband of 13 years.

But on March 3, Kozama was diagnosed with stage 2 breast cancer. She had to start chemotherapy and cut back on her work hours. The treatments wore her out, and the numbness in her hands and feet made it difficult to surf or go for walks.

Cancers tough. You hear that diagnosis, and first of all kind of think, Am I going to die? said Kozama, 35. It just kind of puts a hold on your life. I think it makes you feel like your life is waiting somewhere for you to pick it back up again once youre better.

For Kozama, who is awaiting a double mastectomy on Aug. 15, the Maui Cancer and Wellness Retreat couldnt have come at a better time. She and 23 other cancer survivors spent Friday through Sunday swapping stories and getting their minds, bodies and bellies in tunes on the grounds of Lumeria, a breezy hideaway in Makawao that hosts wellness and educational retreats.

The event, which was sponsored by the Pacific Cancer Foundation and funded by the Joseph Padua Trust, was the brainchild of Dr. Bridget Bongaard, known as Dr. B to her patients. In 2014, Bongaard retired from her position as chief of integrative medicine with the Carolinas Healthcare System and moved to Maui with her husband, Jim. While on Maui, shes worked as a physician at Kula Hospital and Hale Makua and as medical director of Islands Hospice. Bongaard, who has 30 years of experience in medicine, wanted to offer an integrative experience for patients on Maui.

Integrative medicine, according to WebMD.com, takes the most effective treatments from different disciplines to help patients achieve physical and emotional healing. Major universities and medical centers around the country offer integrated medicine programs, Bongaard said. She explained that integrative medicine doesnt spurn traditional methods like chemotherapy or radiation, but aims to complement them and make the patient better equipped to fight the disease on different levels.

When people are not fearful, they can heal faster, Bongaard said. When people are having good nutrition, they can heal faster. When people are able to get rid of old emotional trauma, they can heal faster. And thats how we support the oncology process that we know as modern medicine.

Over the weekend, attendees participated in journaling, art therapy, yoga, qi gong and hula, as well as lessons in nutrition and wellness.

Wailuku resident Wayne Steel, 70, didnt come out of the retreat with a set list of treatments to share with friends and neighbors. Rather, he wanted other cancer patients and survivors to realize they had plenty of choices.

This showed unlimited possibilities, Steel said of the retreat. And thats what I think everybody needs to see, is that you can pick out some things that you feel motivated to do. This (retreat) will motivate you and give you hope, and I didnt find that anywhere else that I looked.

Steel moved to Maui in 1990 when his wife, Hana, became the countys recycling coordinator. Wayne Steel served as executive director of the Maui Food Bank before moving on to work in the prosecutors office and later as coordinator of the Maui County Childrens Justice Committee.

In 2013, doctors noticed that Steels prostate-specific antigen levels were rising, which can indicate cancer. Doctors performed biopsies on Steel and sent him to Honolulu for a second opinion, which confirmed that the mass in his prostate was indeed cancer.

As soon as he found out, Steel overhauled his habits. He exercised regularly and became a vegan. He underwent surgery to remove the tumor, and for a while, it seemed all was well. Then, his prostate-specific antigen levels started to go up again, prompting 39 radiation treatments from July to September 2016. Now, he undergoes regular checkups to make sure the cancer hasnt returned.

So far, so good. Steel said the retreat has motivated him to continue his healthy habits and helped him deal with the anger, resentment and shame that can come with a cancer diagnosis.

Im just trying to do the best I can to make sure it doesnt come back, and if it does come back, be ready for whatever I have to do, Steel said. Thats the thing about cancer. Once you know it can come back, it changes your life forever.

Kozama, who started out as a marine naturalist with the Pacific Whale Foundation, had just begun a job as volunteer coordinator with Malama Maui Nui last August. Now, her main focus is beating cancer.

Kozama said being healthy isnt just about fitting into a dress these days its her life thats in the balance. From March 26 to July 3, she and her husband drove from Napili to Wailuku every other week for chemo treatments. She said in the rush of emotions and that followed her diagnosis, she got caught up in trying to beat cancer as quickly as possible. What shes learned, however, is that it takes patience, time and the willingness to do research and understand the disease a lesson reinforced by the retreat.

I think the overarching message that Dr. B tried to get across this weekend to all of us is just your healing is about you, and youve got to take time for yourself and really put yourself first, and dedicate time each day to doing whatever outlet it is helps you to heal, Kozama said.

The Joseph Padua Trust provided a $40,000 grant that covered all expenses for attendees, including air transportation for Molokai participants. Bongaard said theres even money left over to organize a reunion in five weeks to see how participants have created changes in their lives. She hoped the retreat could become an annual event.

Annie Joya, development coordinator with the Pacific Cancer Foundation, encouraged cancer survivors and their families to reach out to the foundation or organizations like the American Cancer Society.

Whether its navigating insurance or cleaning out the garage, there is no kind of challenge that is too big or too small, Joya said. There will always be support regardless.

* Colleen Uechi can be reached at cuechi@mauinews.com.

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‘Happiness’ Explores The Complex Push And Pull Of Human Relationships – NPR Illinois | 91.9 UIS

Posted: August 11, 2017 at 6:42 am

Nina Martyris is a literature-focused freelancer. Her writing has appeared in NewYorker.com, The Paris Review Daily, The Guardian, NPR and elsewhere.

Sixteen years ago, life seemed perfect for drama teacher Heather Harpham when she fell in love with Brian Morton, an award-winning novelist equipped with a "sly, sly humor." Sure, they were a study in opposites he was a disciplined, "diffident, sexy, Jewish intellectual," she a California free spirit; he ate broccoli with brown rice and garlic sauce for dinner every night, she strayed toward salty snacks and ice cream; her apartment had big, colorful posters, his had black-and-white postcards. But they were young, in love, and living in New York, and these differences only proved to be thrillingly attractive.

One difference, though, was insuperable: She wanted kids, he didn't. Neither made any secret of where they stood on the issue.

When Harpham learned she was pregnant, they broke up, and she went back to her mother's studio in California to have the baby. Lonely and furious, she was nevertheless determined to bring up her child "one-handed." Hours after the birth of her daughter, however, came a devastating diagnosis: The baby's bone marrow couldn't make red blood cells. She would require an immediate blood transfusion and frequent ones thereafter four in the first three months as it turned out to stay alive.

In her new memoir, Happiness: The Crooked Little Road to Semi-Ever After, Harpham relives the heartbreak, hope, and terror she experienced as she watched her infant daughter cross the abyss of a life-threatening disease. Into this tension-torqued story of sickness and health, she works in the fraught tale of her own evolving relationship with Morton, loading the memoir with an added intensity.

Acutely aware that her little girl, Gracie, is a victim of bad blood in more ways than one bad blood between her parents and her own malfunctioning red blood cells Harpham is a tight coil of fear and anger. Her mother, stepbrothers, and friends in California form a protective cordon around her and the baby, but their loyalty only serves to throw Morton's absence into high relief. Four months after Gracie's birth, Morton, who has called every night and been worried sick long-distance, asks if he can see his daughter. He arrives, and quite naturally, finds her irresistible.

Harpham is no longer "one-handed," but her anger doesn't dissolve overnight it's just that saving Gracie becomes the focus of her parents' world. The transfusions stabilize her, but the odds of her living past 30 are not high. There is one solution: A stem-cell transplant from a donor who is a close match. A sibling would be the answer. It would mean having another child. But what are the chances of a sibling being a perfect match? Even if there's a match, what are the chances of the transplant being successful? Failure would be fatal. Should they go ahead? It's an agonizing decision only Gracie's parents can make.

In sharp and vivid prose, Harpham tunnels through the harrowing months ahead filled with hospitals, needles, and ICUs. While the book could have benefitted from some pruning, what keeps the reader reading is the writing. Apart from the long, twee title, Harpham's language is crisp, tersely evocative (the baby freshly conceived inside her is a "grain of rice with a heartbeat"), and most bracingly for a book whose currency is pain, funny. Harpham admires Morton's sly humor, but she, too, has a gift for comedy that glints through at dour moments. It's hard not to smile, albeit with a catch in your throat, when she says her unsmiling newborn, "barely past blob status," looks "alarmingly like Alfred Hitchcock" and emits high-pitched squeaks like "a small wind instrument" and who, after a few hours out of her mother's womb, begins "to smell less like apples and more like an element, tin or iron."

Iron, of course, is the elixir the baby needs to survive, and Harpham's humor has an aching edge to it. It provides the gritty foil to lighter moments such as the hospital scene when Gracie first sets eyes on Gabriel, whose stem cells, if they turn out to match hers, could save her life. She doesn't know any of this, as she's not even two. Asked what she thinks of her brother, she peers into his face, strokes his hand, and announces: "Soft boy."

"My mom cried," writes Harpham. "Brian cried. I cried. Gabriel slept. Gracie looked at us all with baffled amusement what were we so worked up about?"

A heartfelt exploration of mortality and life, this memoir also explores the complex pulls and pushes of human relationships, and the deep debt we owe to family, friends, and modern medicine. At heart, it is a sobering mediation on the lasting impermanence of its titular emotion, happiness.

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Origami Organs: This ‘Tissue Paper’ Could Help Regenerate a Heart or Uterus – Live Science

Posted: August 11, 2017 at 6:42 am

Scientists have created paper-like biomaterials from organs such as the ovaries, uterus, heart, liver and muscle that are thin and flexible enough to fold into origami birds and other structures.

These new "tissue paper" materials retain the cellular properties of the organ, so they could help the body regenerate the relevant organ tissue to aid healing of wounds, scientists said.

"Because it has components that are found in the actual tissue in the organs, the cells will recognize it once it's implanted," study co-author Ramille Shah, assistant professor of materials science and engineering at Northwestern University in Evanston, Illinois, said of the tissue paper in a video statement. [11 Body Parts Grown in the Lab]

An accidental ink spill sparked the invention of these new materials. Lead study author Adam Jakus, formerly a materials engineer at Northwestern University, had created an ink made of an ovary for use in a 3D printer. When he went to wipe up the spill, the ovary ink had already formed a dry sheet.

"When I tried to pick it up, it felt strong," Jakus said in a statement. "The light bulb went on in my head. I could do this with other organs."

So, Jakus and his colleagues took a pig or cow organ and used detergents to strip it of its cells. This left behind the extracellular matrix of the organ the scaffold of proteins that helps give an organ its structure.

The scientists then freeze-dried this organ material, ground it into a powder and mixed it with a solvent to create an ink. When films of this ink were dried, they became flat sheets of paper-like materials.

Each thin, flexible sheet of tissue paper felt and behaved much like standard office paper, Jakus said. He could even fold these sheets into an origami bird, he said.

"They're easy to store, fold, roll, suture and cut, like paper," Jakus told Live Science. "Their flat, flexible nature is important if doctors want to shape and manipulate them in surgical situations."

Each sheet of tissue paper contains residual biological molecules and protein structures from its source organs. In experiments, this tissue paper could support the growth of adult human stem cells.

The researchers suggested their new materials could stimulate cells to behave in potentially therapeutic ways. For instance, tissue paper made of muscle could help foster the growth of muscle cells.

"A lot of muscles in the face are flat and thin, and perhaps muscle tissue paper can help foster the growth of muscle cells for people who've experienced traumatic injuries, or children born with congenital defects," Jakus said.

If a kidney or a uterus is nicked by an injury or during surgery, "those organs can bleed a lot very quickly," Jakus said. "Tissue paper could act like an internal bandage for such cuts."

In addition, in experiments, ovarian tissue paper seeded with ovarian cells could produce hormones linked to puberty and fertility. Such implants could help restore normal hormone function in female cancer patients, who often lose their hormone function due to chemotherapy and radiation, said study co-author Teresa Woodruff, a reproductive scientist at Northwestern University.

"It is really amazing that meat and animal byproducts like a kidney, liver, heart and uterus can be transformed into paper-like biomaterials that can potentially regenerate and restore function to tissues and organs," Jakus said in the statement. "I'll never look at a steak or pork tenderloin the same way again."

Future research should explore if these new materials are safe and effective for use in the human body, Jakus said. In addition, the scientists are investigating making 3D objects from their organ inks using 3D printers, he said.

Jakus is now chief technology officer and co-founder of the startup company Dimension Inx, which will develop, produce and sell 3D-printable materials primarily for medical applications. These new inks will be licensed to Dimension Inx.

The scientists detailed their findings today (Aug. 7) in the journal Advanced Functional Materials.

Original article on Live Science.

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Gene Therapy Is Now Available, but Who Will Pay for It? – Scientific American

Posted: August 9, 2017 at 11:44 pm

By Ben Hirschler

LONDON (Reuters) - The science of gene therapy is finally delivering on its potential, and drugmakers are now hoping to produce commercially viable medicines after tiny sales for the first two such treatments in Europe.

Thanks to advances in delivering genes to targeted cells, more treatments based on fixing faulty DNA in patients are coming soon, including the first ones in the United States.

Yet the lack of sales for the two drugs already launched to treat ultra-rare diseases in Europe highlights the hurdles ahead for drugmakers in marketing new, extremely expensive products for genetic diseases.

After decades of frustrations, firms believe there are now major opportunities for gene therapy in treating inherited conditions such as haemophilia. They argue that therapies offering one-off cures for intractable diseases will save health providers large sums in the long term over conventional treatments which each patient may need for years.

In the past five years, European regulators have approved two gene therapies - the first of their kind in the world, outside China - but only three patients have so far been treated commercially.

UniQure's Glybera, for a very rare blood disorder, is now being taken off the market given lack of demand.

The future of GlaxoSmithKline's Strimvelis for ADA-SCID - or "bubble boy" disease, where sufferers are highly vulnerable to infections - is uncertain after the company decided to review and possibly sell its rare diseases unit.

Glybera, costing around $1 million per patient, has been used just once since approval in 2012. Strimvelis, at about $700,000, has seen two sales since its approval in May 2016, with two more patients due to be treated later this year.

"It's disappointing that so few patients have received gene therapy in Europe," said KPMG chief medical adviser Hilary Thomas. "It shows the business challenges and the problems faced by publicly-funded healthcare systems in dealing with a very expensive one-off treatment."

These first two therapies are for exceptionally rare conditions - GSK estimates there are only 15 new cases of ADA-SCID in Europe each year - but both drugs are expected to pave the way for bigger products.

The idea of using engineered viruses to deliver healthy genes has fuelled experiments since the 1990s. Progress was derailed by a patient death and cancer cases, but now scientists have learnt how to make viral delivery safer and more efficient.

Spark Therapeutics hopes to win U.S. approval in January 2018 for a gene therapy to cure a rare inherited form of blindness, while Novartis could get a U.S. go-ahead as early as next month for its gene-modified cell therapy against leukaemia - a variation on standard gene therapy.

At the same time, academic research is advancing by leaps and bounds, with last week's successful use of CRISPR-Cas9 gene editing to correct a defect in a human embryo pointing to more innovative therapies down the line.

Spark Chief Executive Jeffrey Marrazzo thinks there are specific reasons why Europe's first gene therapies have sold poorly, reflecting complex reimbursement systems, Glybera's patchy clinical trials record and the fact Strimvelis is given at only one clinic in Italy.

He expects Spark will do better. It plans to have treatment centers in each country to address a type of blindness affecting about 6,000 people around the world.

Marrazzo admits, however, there are many questions about how his firm should be rewarded for the $400 million it has spent developing the drug, given that healthcare systems are geared to paying for drugs monthly rather than facing a huge upfront bill.

A one-time cure, even at $1 million, could still save money over the long term by reducing the need for expensive care, in much the same way that a kidney transplant can save hundreds of thousands of dollars in dialysis costs.

But gene therapy companies - which also include Bluebird Bio, BioMarin, Sangamo and GenSight - may need new business models.

One option would be a pay-for-performance system, where governments or insurers would make payments to companies that could be halted if the drug stopped working.

"In an area like haemophilia I think that approach is going to make a ton of sense, since the budget impact there starts to get more significant," Marrazzo said.

Haemophilia, a hereditary condition affecting more than 100,000 people in markets where specialty drugmakers typically operate, promises to be the first really big commercial opportunity. It offers to free patients from regular infusions of blood-clotting factors that can cost up to $400,000 a year.

Significantly, despite its move away from ultra-rare diseases, GSK is still looking to use its gene therapy platform to develop treatments for more common diseases, including cancer and beta-thalassaemia, another inherited blood disorder.

Rivals such as Pfizer and Sanofi are also investing, and overall financing for gene and gene-modified cell therapies reached $1 billion in the first quarter of 2017, according to the Alliance of Regenerative Medicine.

Shire CEO Flemming Ornskov - who has a large conventional haemophilia business and is also chasing Biomarin and Spark in hunting a cure for the bleeding disorder - sees both the opportunities and the difficulties of gene therapy.

"Is it something that I think will take market share mid- to long-term if the data continues to be encouraging? Yes. But I think everybody will have to figure out a business model."

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Silverstein-backed startup will test gene therapy for Parkinson’s – FierceBiotech

Posted: August 9, 2017 at 11:44 pm

Regenxbio has joined forces with investment firm OrbiMed and a new nonprofit foundation to create Prevail Therapeutics, a startup focused on new biologics and gene therapiesfor Parkinson's disease (PD).

Prevail will draw on the expertise of the Silverstein Foundation for Parkinson's with GBA, which concentrates on a particular form of the disease caused by mutations in the glucocerebrosidase gene.

The foundation was set up this year by OrbiMed's co-head of private equity Jonathan Silverstein, who was diagnosed with GBA-linked PD in February and is mobilizing efforts to discover a cure for the disease. Silverstein backed the foundation with $10 million of his own money, and is intent on accelerating research into PD with GBA as well as other forms of the disease.

Prevail says it will focus initially on research coming out of the lab of its co-founder and CEO Asa Abeliovich, M.D., Ph.D., who is on the faculty of Columbia University as well as being a scientific adviser to the Silverstein Foundation and co-founder of neurodegenerative disease biotech Alector.

By joining forces with Regenxbio, Prevail launches with an exclusive license to the gene therapy specialist's adeno-associated virus (AAV) based vector technology NAV AAV9 for PD and other neurodegenerative disorders.

Silverstein said that the NAV platform and Dr. Abeliovich's "deep expertise in the molecular mechanisms of neurodegeneration provides us with a promising opportunity to develop potential life-changing therapies for patients suffering from Parkinson's disease and other neurodegenerative diseases."

He told CNBC today that Prevail's board will also have some big names, including Leonard Bell, co-founder and former CEO of Alexion, OrbiMed venture partner and Alexion co-founder Steve Squinto and serial entrepreneur Peter Thompson of Silverback Therapeutics and Corvus Pharmaceuticals.

The new company will initially focus on GBA1, the most common of the PD mutations, which is estimated to be present in up to 10% of U.S. PD patients and perhaps 100,000 people worldwide. The disease mechanism linked to the mutationan accumulation of alpha-synuclein in the brainmay have implications for the broader PD population and other neurodegenerative diseases.

"Many of the drugs we are trying for Parkinson's with GBA may work in the broader Parkinson's population," said Silverstein. The aim will be to get drugs approved for use in GBA patients first, and then expand their use into other patient groups.

The work of the foundation is attracting investment from companies who are not even active in PD, with cancer specialist Celgene today pledging a grant of $5 million.

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