StemCell Therapy

Our 2018 conference featured keynote address by JeffreyR. Balser, M.D., Ph.D.,President and CEO, Vanderbilt University Medical Centerand Dean of the Vanderbilt University School of Medicine,one of the most progressive and innovative health systems in the country.

CEOs and administrators at the nations leading health networks and hospitals recognize this truth: precision medicine is poised to transform clinical care in ways that experts say will be highly disruptive to health networks, particularly those that are slow to respond to thisimportant trend.

That makes it imperative for CEOs and senior administrators at health networks everywhere to get answers to these two questions:1) How is precision medicine now changing clinical care today, including specific programs already used by networks and physicians to improve patient outcomes, reduce costs, and open the door to new sourcesof revenue?2) What precision medicine strategy is best for my health network and its hospitals?

Attendees will find answers to both questions at our Precision Medicine Institute Symposium 2019, taking place Thursday and Friday, May 2-3 at the Sheraton Hotel in New Orleans, LA.

During this intensive 1 1/2 day conference, the nations first movers and early adopters will discuss their first programs to infuse precision medicine into specific areas of clinical care. On topics ranging from spectacular success in oncology and cancer care, offering patients access to pharmacogenetic testing in primary care settings, and more, youll hear sessions and speakers with up-to-the minute insights so needed to develop the right precision medicine strategy for todays health networks.

Precision medicine is becoming real. It's no longer something for an egghead institution to dabble in. It can be used as a strategic advantage in terms of delivering efficient care, competing with other health systems, ways of making sure that patients are having as much risk mitigated as possible. It's an ideal opportunity to really fine-tune a health system. a really engaged audience and the type you don't normally get to speak with. Having leadership at health systems, at health companies, at other types of health enterprises, you have a different type of thinking. The networking is strong.

Howard McCloud, MDMedical Director, Personalized MedicineMoffitt Cancer Center, Tampa, FL

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Precision Medicine Executive Summit: Cutting-edge Insights

The International Committee of Medical Journal Editors (ICMJE) offers guidance to authors in its publication Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals (ICMJE Recommendations), which was formerly the Uniform Requirements for Manuscripts. The recommended style for references is based on the National Information Standards Organization NISO Z39.29-2005 (R2010) Bibliographic References as adapted by the National Library of Medicine for its databases.

Details, including fuller citations and explanations, are in Citing Medicine. (Note Appendix F which covers how citations in MEDLINE/PubMed differ from the advice in Citing Medicine.) For datasets (Item 43 below) and software on the Internet (Item 44 below), simplified formats are also shown.

See also #36. Journal article on the Internet and #43. Dataset description article.

1. Standard journal article

Halpern SD, Ubel PA, Caplan AL. Solid-organ transplantation in HIV-infected patients. N Engl J Med. 2002 Jul 25;347(4):284-7.

List the first six authors, followed by et al. If there are more than six authors, list the first six authors, followed by et al. (Note: NLM now lists all authors.):

Rose ME, Huerbin MB, Melick J, Marion DW, Palmer AM, Schiding JK, et al. Regulation of interstitial excitatory amino acid concentrations after cortical contusion injury. Brain Res. 2002;935(1-2):40-6.

Optional: If a journal carries continuous pagination throughout a volume (as many medical journals do), omit the month and issue number.

Halpern SD, Ubel PA, Caplan AL. Solid-organ transplantation in HIV-infected patients. N Engl J Med. 2002;347:284-7.

Optional: Addition of a database's unique identifiers, such as the PubMed PMID, for the citation:

Forooghian F, Yeh S, Faia LJ, Nussenblatt RB. Uveitic foveal atrophy: clinical features and associations. Arch Ophthalmol. 2009 Feb;127(2):179-86. PubMed PMID: 19204236; PubMed Central PMCID: PMC2653214.

Optional: Addition of a clinical trial registration number:

Trachtenberg F, Maserejian NN, Soncini JA, Hayes C, Tavares M. Does fluoride in compomers prevent future caries in children? J Dent Res. 2009 Mar;88(3):276-9. PubMed PMID: 19329464. ClinicalTrials.gov registration number: NCT00065988.

2. Organization as author

Diabetes Prevention Program Research Group. Hypertension, insulin, and proinsulin in participants with impaired glucose tolerance. Hypertension. 2002;40(5):679-86.

3. Both personal authors and organization as author (List all as they appear in the byline.)

Vallancien G, Emberton M, Harving N, van Moorselaar RJ; Alf-One Study Group. Sexual dysfunction in 1,274 European men suffering from lower urinary tract symptoms. J Urol. 2003;169(6):2257-61.

4. No author given

21st century heart solution may have a sting in the tail. BMJ. 2002;325(7357):184.

5. Article not in English

Ellingsen AE, Wilhelmsen I. Sykdomsangst blant medisin- og jusstudenter. Tidsskr Nor Laegeforen. 2002;122(8):785-7. Norwegian.

Optional: Translation of article title (MEDLINE/PubMed practice):

Ellingsen AE, Wilhelmsen I. [Disease anxiety among medical students and law students]. Tidsskr Nor Laegeforen. 2002 Mar 20;122(8):785-7. Norwegian.

6. Volume with supplement

Geraud G, Spierings EL, Keywood C. Tolerability and safety of frovatriptan with short- and long-term use for treatment of migraine and in comparison with sumatriptan. Headache. 2002;42 Suppl 2:S93-9.

7. Issue with supplement

Glauser TA. Integrating clinical trial data into clinical practice. Neurology. 2002;58(12 Suppl 7):S6-12.

8. Volume with part

Abend SM, Kulish N. The psychoanalytic method from an epistemological viewpoint. Int J Psychoanal. 2002;83(Pt 2):491-5.

9. Issue with part

Ahrar K, Madoff DC, Gupta S, Wallace MJ, Price RE, Wright KC. Development of a large animal model for lung tumors. J Vasc Interv Radiol. 2002;13(9 Pt 1):923-8.

10. Issue with no volume

Banit DM, Kaufer H, Hartford JM. Intraoperative frozen section analysis in revision total joint arthroplasty. Clin Orthop. 2002;(401):230-8.

11. No volume or issue

Outreach: bringing HIV-positive individuals into care. HRSA Careaction. 2002 Jun:1-6.

12. Pagination in roman numerals

Chadwick R, Schuklenk U. The politics of ethical consensus finding. Bioethics. 2002;16(2):iii-v.

13. Type of article indicated as needed

Tor M, Turker H. International approaches to the prescription of long-term oxygen therapy [letter]. Eur Respir J. 2002;20(1):242.

Lofwall MR, Strain EC, Brooner RK, Kindbom KA, Bigelow GE. Characteristics of older methadone maintenance (MM) patients [abstract]. Drug Alcohol Depend. 2002;66 Suppl 1:S105.

14. Article containing retraction

Feifel D, Moutier CY, Perry W. Safety and tolerability of a rapidly escalating dose-loading regimen for risperidone. J Clin Psychiatry. 2002;63(2):169. Retraction of: Feifel D, Moutier CY, Perry W. J Clin Psychiatry. 2000;61(12):909-11.

Article containing a partial retraction:

Starkman JS, Wolder CE, Gomelsky A, Scarpero HM, Dmochowski RR. Voiding dysfunction after removal of eroded slings. J Urol. 2006 Dec;176(6 Pt 1):2749. Partial retraction of: Starkman JS, Wolter C, Gomelsky A, Scarpero HM, Dmochowski RR. J Urol. 2006 Sep;176(3):1040-4.

15. Article retracted

Feifel D, Moutier CY, Perry W. Safety and tolerability of a rapidly escalating dose-loading regimen for risperidone. J Clin Psychiatry. 2000;61(12):909-11. Retraction in: Feifel D, Moutier CY, Perry W. J Clin Psychiatry. 2002;63(2):169.

Article partially retracted:

Starkman JS, Wolter C, Gomelsky A, Scarpero HM, Dmochowski RR. Voiding dysfunction following removal of eroded synthetic mid urethral slings. J Urol. 2006 Sep;176(3):1040-4. Partial retraction in: Starkman JS, Wolder CE, Gomelsky A, Scarpero HM, Dmochowski RR. J Urol. 2006 Dec;176(6 Pt 1):2749.

16. Article republished with corrections

Mansharamani M, Chilton BS. The reproductive importance of P-type ATPases. Mol Cell Endocrinol. 2002;188(1-2):22-5. Corrected and republished from: Mol Cell Endocrinol. 2001;183(1-2):123-6.

17. Article with published erratum

Malinowski JM, Bolesta S. Rosiglitazone in the treatment of type 2 diabetes mellitus: a critical review. Clin Ther. 2000;22(10):1151-68; discussion 1149-50. Erratum in: Clin Ther. 2001;23(2):309.

18. Article published electronically ahead of the print version

Yu WM, Hawley TS, Hawley RG, Qu CK. Immortalization of yolk sac-derived precursor cells. Blood. 2002 Nov 15;100(10):3828-31. Epub 2002 Jul 5.

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19. Personal author(s)

Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.

20. Editor(s), compiler(s) as author

Gilstrap LC 3rd, Cunningham FG, VanDorsten JP, editors. Operative obstetrics. 2nd ed. New York: McGraw-Hill; 2002.

21. Author(s) and editor(s)

Breedlove GK, Schorfheide AM. Adolescent pregnancy. 2nd ed. Wieczorek RR, editor. White Plains (NY): March of Dimes Education Services; 2001.

22. Organization(s) as author

American Occupational Therapy Association, Ad Hoc Committee on Occupational Therapy Manpower. Occupational therapy manpower: a plan for progress. Rockville (MD): The Association; 1985 Apr. 84 p.

National Lawyer's Guild AIDs Network (US); National Gay Rights Advocates (US). AIDS practice manual: a legal and educational guide. 2nd ed. San Francisco: The Network; 1988.

23. Chapter in a book

Meltzer PS, Kallioniemi A, Trent JM. Chromosome alterations in human solid tumors. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGraw-Hill; 2002. p. 93-113.

24. Conference proceedings

Harnden P, Joffe JK, Jones WG, editors. Germ cell tumours V. Proceedings of the 5th Germ Cell Tumour Conference; 2001 Sep 13-15; Leeds, UK. New York: Springer; 2002.

25. Conference paper

Christensen S, Oppacher F. An analysis of Koza's computational effort statistic for genetic programming. In: Foster JA, Lutton E, Miller J, Ryan C, Tettamanzi AG, editors. Genetic programming. EuroGP 2002: Proceedings of the 5th European Conference on Genetic Programming; 2002 Apr 3-5; Kinsdale, Ireland. Berlin: Springer; 2002. p. 182-91.

26. Scientific or technical report

Issued by funding/sponsoring agency:

Yen GG (Oklahoma State University, School of Electrical and Computer Engineering, Stillwater, OK). Health monitoring on vibration signatures. Final report. Arlington (VA): Air Force Office of Scientific Research (US), Air Force Research Laboratory; 2002 Feb. Report No.: AFRLSRBLTR020123. Contract No.: F496209810049.

Issued by performing agency:

Russell ML, Goth-Goldstein R, Apte MG, Fisk WJ. Method for measuring the size distribution of airborne Rhinovirus. Berkeley (CA): Lawrence Berkeley National Laboratory, Environmental Energy Technologies Division; 2002 Jan. Report No.: LBNL49574. Contract No.: DEAC0376SF00098. Sponsored by the Department of Energy.

27. Dissertation

Borkowski MM. Infant sleep and feeding: a telephone survey of Hispanic Americans [dissertation]. Mount Pleasant (MI): Central Michigan University; 2002.

28. Patent

Pagedas AC, inventor; Ancel Surgical R&D Inc., assignee. Flexible endoscopic grasping and cutting device and positioning tool assembly. United States patent US 20020103498. 2002 Aug 1.

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29. Newspaper article

Tynan T. Medical improvements lower homicide rate: study sees drop in assault rate. The Washington Post. 2002 Aug 12;Sect. A:2 (col. 4).

30. Audiovisual material

Chason KW, Sallustio S. Hospital preparedness for bioterrorism [videocassette]. Secaucus (NJ): Network for Continuing Medical Education; 2002.

31. Legal Material

Public law:Veterans Hearing Loss Compensation Act of 2002, Pub. L. No. 107-9, 115 Stat. 11 (May 24, 2001).

Unenacted bill:Healthy Children Learn Act, S. 1012, 107th Cong., 1st Sess. (2001).

Code of Federal Regulations:Cardiopulmonary Bypass Intracardiac Suction Control, 21 C.F.R. Sect. 870.4430 (2002).

Hearing:Arsenic in Drinking Water: An Update on the Science, Benefits and Cost: Hearing Before the Subcomm. on Environment, Technology and Standards of the House Comm. on Science, 107th Cong., 1st Sess. (Oct. 4, 2001).

32. Map

Pratt B, Flick P, Vynne C, cartographers. Biodiversity hotspots [map]. Washington: Conservation International; 2000.

33. Dictionary and similar references

Dorland's illustrated medical dictionary. 29th ed. Philadelphia: W.B. Saunders; 2000. Filamin; p. 675.

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34. Forthcoming and Preprints

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Samples of Formatted References for Authors of Journal ...

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Even though cancers may be found in the same part of the body and look similar under the microscope, we now understand that they can be quite different. That difference often appears in how that tumor type responds to therapy. Increasingly, that variation in response to treatment can reflect the changes that are found in the DNA of the tumor. Thats why Moffitt Cancer Center looks at every patients cancer as unique. We start with a precise diagnosis that tries to identify the specific DNA alternations in the tumor and then create an individualized treatment plan that has the best chance of beating your cancer. Our team approach ensures a full range of specialists are collaborating to look at your cancer from every perspective.

The ultimate goal of personalized medicine at Moffitt is to create and share new, targeted treatments that will improve outcomes, cure disease, extend survivorship and improve quality of life for patients regardless of where they live. This is accomplished through existing clinical programs as well as ongoing research into how best to develop the right diagnosis and treatment plan for each individual.

Our efforts include:

DeBartolo Family Personalized Medicine InstituteThe DeBartolo Family Personalized Medicine Institute provides the hub for personalized care and research at Moffitt. Created by a generous donation from the DeBartolo Family Foundation, the DFPMI was created in 2012 to revolutionize the discovery, delivery and effectiveness of cancer care on an international scale.

Department of Individualized Cancer ManagementThe Department of Individualized Cancer Management includes five high impact and clinically oriented departments under the leadership of Dr. Howard McLeod: Adolescent & Young Adult, Gene Home, Genetic Risk Assessment Service, Personalized Cancer Medicine and the Senior Adult Oncology Program. The Personalized Cancer Medicine department is comprised of the Personalized Medicine Clinical Service (PMCS) and Clinical Genomics Action Committee (CGAC). PMCS and CGAC were developed as pathways for direct clinical translation of results from genomic testing. PMCS provides consultation and interpretation of the tumor genetic sequencing results for Moffitt patients and serves as a resource to Moffitt Physicians for input and advice regarding personalized medicine. CGAC serves as Moffitts unique molecular tumor board and includes a diverse team with expertise from various disciplines. Dr. McLeod, a renowned expert on the role of genetics on the individuals response to cancer therapies, is the Medical Director for the DeBartolo Family Personalized Medicine Institute.

Total Cancer CareMoffitt Cancer Center's Total Cancer Care initiative is an ambitious research partnership between patients, doctors and researchers to improve all aspects of cancer prevention and care. Patients participate by donating information and tissue. Researchers use the information to learn about all issues related to cancer and how care can be improved. Physicians use the information to better educate and care for patients.

Clinical PathwaysMoffitts clinical pathways are a model for providing evidence-based, consensus-driven, cost-effective cancer care. Each of the 51 disease-specific pathways that Moffitt has developed offers a detailed road map for physicians to provide state-of-the-art cancer care. The pathways demonstrate how to integrate evidence-based medicine with available technology to standardize, benchmark, measure and improve cancer care.

Molecular Diagnostics LaboratoryThe Morsani Molecular Diagnostics Laboratory is revolutionizing cancer diagnostics by using the most advanced genetic testing tools available to improve the precision in the patient care we provide. Studies show as many as 30 percent of initial cancer diagnoses are revised to indicate a different type of cancer. This lab seeks to reduce that number by developing clinical biomarkers that can help identify the right drug for a particular patient or determine if a specific clinical trial is a good match for a patient with a certain tumor gene mutation.

ORIENThe Oncology Research Information Exchange Network (ORIEN) is a unique research partnership among North Americas top cancer centers that recognizes collaboration and access to data as the key to cancer discovery. Through ORIEN, founders Moffitt and The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute in Columbus leverage multiple data sources and match patients to targeted treatments. Partners have access to one of the worlds largest clinically annotated cancer tissue repositories and data from more than 100,000 patients who have consented to the donation for research.

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Personalized Medicine | Moffitt

At Montefiore, our approach to genetic testing and research demonstrates a unique recognition of the increasing importance of this field. We are one of the only institutions worldwide to have placed our Division of Reproductive Genetics within our Obstetrics & Gynecology Department, rather than within pediatrics, which allows our patients to receive highly specialized care before and during all stages of their pregnancies.

With our ever-growing knowledge of genetics, our approach to prenatal care and overall healthcare for women incorporates a new range of interventions and treatments. We are expanding the field further with ongoing research and patient care, and by training the next generation of experts through Montefiore's affiliation with the Albert Einstein College of Medicine.

Our doctors are among only a few nationally who have a specialty in medical genetics coupled with a foundation in gynecology. Women can expect comprehensive care that addresses all aspects of their own health and prenatal needs.

When a pregnant woman receives an ultrasound at Montefiore, we apply our expertise in genetics to look for Down Syndrome and other syndromes and birth defects, whether related to chromosomes or single genes. We continually expand our expertise by performing more than 1,500 amniocenteses annually. Our doctors have published many papers on topics related to unusual ultrasounds.

Montefiore's range of experts and well-coordinated services offer patients complete care without the stress of traveling between multiple sites. Such centralized treatment is especially important because of the emotional and physical stress of dealing with a serious problem. After managing women's care for more than 30 years, we have ample experience synchronizing treatments between departments such as Gynecology, Obstetrics, Pathology and Psychiatry.

We are also expanding our work on the link between genetics and infertility, including male infertility. Those seeking infertility treatments, such as in vitro fertilization, can talk to our expert geneticists about the latest advancements in the field in genetic counseling.

And because we work closely with our colleagues in pediatrics, our patients can be confident that they will receive informed, caring treatment through every stage of pregnancy and childbirth.

We are also committed to expanding our expertise in the field of cancer genetics specific to women, including testing for:

As we gain a greater understanding of the genes that predispose people to specific cancers, we are able to save lives by using a complete family history and genetic testing to identify patients who may be at risk.

Women can now receive therapies to treat and prevent cancer earlier than ever before. Montefiore's leadership in the field is evident in the increasing number of patients who are referred to us by doctors at other medical centers in the region because of our state-of-the-art care.

Please print and fill out the Genetics Questionnaire before your appointment with the geneticist or genetic counselor because it will be helpful for us. If you have medical records or family records, please bring them with you to your appointment.

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Genetic Counseling - Bronx - Westchester - New York ...

Directions to CHDD from Main Information Desk at UWMCThe Patient Information Desk on the main (3rd Floor) of UWMC has detailed directions and a map to CHDD and may be able to provide an escort. From the Information Desk take the Pacific Elevators to the 1st Floor of the hospital. Walk through the Plaza Caf and exit the back glass doors of the hospital. CHDD is the four story brick building directly across the street. Check in at the reception desk on the main (2nd Floor) of CHDD.

Access the lot from 15th Avenue N.E. Stop at gate house 6 to obtain a parking permit.

Look for CHDD- designated or UWMC disability parking stalls. Walk out of S1 at the east end and enter CHDD Clinic building. Patients can be dropped off at the CHDD entrance from which vehicles can return to S1 for parking. A cash payment of $15.00 is required upon entry. Please leave the permit on your dashboard. A partial discount voucher will be given at appointment check-in for patients or family members.

CHDD Parking Brochure (PDF)

Disability ParkingFor All CHDD patients and families with mobility parking needs, the closest parking is in the S1 Garage. Please request a disability placard at the gate house. A cash payment of $15.00 is required upon entry. Please leave the permit on your dashboard. A partial discount voucher will be given at appointment check-in for patients or family members. Valet parking is available at the main entrance of the Medical Center; wheelchairs and escort services are available from the Information Desk.

Valet ParkingValet parking service for patients and their visitors is located in front of the Medical Center, near the main entrance. Allow extra time if you choose to use valet parking.

From valet service, walk east to the main entrance of UWMC. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.Triangle Parking GarageThe Triangle Parking Garage is located on N.E. Pacific Place, across the street from UW Medical Center. From Montlake Blvd., turn left onto N.E. Pacific Street and right onto N.E. Pacific Place. The Triangle Garage has a height restriction of 6 8. Allow extra time if you choose to use the Triangle Parking Garage.From the Triangle Garage, take the pedestrian tunnel to the front entrance of the UWMC. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.

Surgery Pavilion Parking GarageThe Surgery Pavilion Parking Garage is accessed off of N.E. Pacific Street next to the Emergency Room entrance. The Surgery Pavilion has a height restriction of 9 6 on Level P1. Levels P2 & P3 (2nd & 3rd floor) have a height restriction of 6 7. Allow extra time if you choose to use the Surgery Pavilion Parking Garage.

From the Surgery Pavilion Parking Garage, take the elevator to the third floor. Walk across the pedestrian overpass to the main hospital building lobby. The Information Desk has detailed directions and a map to CHDD and may be able to provide an escort.Payment Rates for parking in S-1, Valet, Triangle, Surgery Pavilion:Patients parking in S-1 will need to pay $15 up front which will be partially reimbursed with validation upon exiting the parking lot (see rates for parking in link above). Credit/Debit cards will be reimbursed on the card, while patients paying cash will be given a cash reimbursement.

Getting to UW Medical Center

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Genetic Medicine Clinic at UW Medical Center | UW Medicine

Maternalfetal medicine (MFM) (also known as perinatology) is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.

Maternalfetal medicine specialists are physicians who subspecialize within the field of obstetrics.[1] Their training typically includes a four-year residency in obstetrics and gynecology followed by a three-year fellowship. They may perform prenatal tests, provide treatments, and perform surgeries. They act both as a consultant during lower-risk pregnancies and as the primary obstetrician in especially high-risk pregnancies. After birth, they may work closely with pediatricians or neonatologists. For the mother, perinatologists assist with pre-existing health concerns, as well as complications caused by pregnancy.

Maternalfetal medicine began to emerge as a discipline in the 1960s. Advances in research and technology allowed physicians to diagnose and treat fetal complications in utero, whereas previously, obstetricians could only rely on heart rate monitoring and maternal reports of fetal movement. The development of amniocentesis in 1952, fetal blood sampling during labor in the early 1960s, more precise fetal heart monitoring in 1968, and real-time ultrasound in 1971 resulted in early intervention and lower mortality rates.[2] In 1963, Albert William Liley developed a course of intrauterine transfusions for Rh incompatibility at the National Women's Hospital in Australia, regarded as the first fetal treatment.[3] Other antenatal treatments, such as the administration of glucocorticoids to speed lung maturation in neonates at risk for respiratory distress syndrome, led to improved outcomes for premature infants.

Consequently, organizations were developed to focus on these emerging medical practices, and in 1991, the First International Congress of Perinatal Medicine was held, at which the World Association of Perinatal Medicine was founded.[2]

Today, maternal-fetal medicine specialists can be found in major hospitals internationally. They may work in privately owned clinics, or in larger, government-funded institutions.[4][5]

The field of maternal-fetal medicine is one of the most rapidly evolving fields in medicine, especially with respect to the fetus. Research is being carried on in the field of fetal gene and stem cell therapy in hope to provide early treatment for genetic disorders,[6] open fetal surgery for the correction of birth defects like congenital heart disease,[7] and the prevention of preeclampsia.

Maternalfetal medicine specialists attend to patients who fall within certain levels of maternal care. These levels correspond to health risks for the baby, mother, or both, during pregnancy.[8]

They take care of pregnant women who have chronic conditions (e.g. heart or kidney disease, hypertension, diabetes, and thrombophilia), pregnant women who are at risk for pregnancy-related complications (e.g. preterm labor, pre-eclampsia, and twin or triplet pregnancies), and pregnant women with fetuses at risk. Fetuses may be at risk due to chromosomal or congenital abnormalities, maternal disease, infections, genetic diseases and growth restriction.[9]

Expecting mothers with chronic conditions, such as high blood pressure, drug use during or before pregnancy, or a diagnosed medical condition may require a consult with a maternal-fetal specialist. In addition, women who experience difficulty conceiving may be referred to a maternal-fetal specialist for assistance.

During pregnancy, a variety of complications of pregnancy can arise. Depending on the severity of the complication, a maternal-fetal specialist may meet with the patient intermittently, or become the primary obstetrician for the length of the pregnancy. Post-partum, maternal-fetal specialists may follow up with a patient and monitor any medical complications that may arise.

The rates of maternal and infant mortality due to complications of pregnancy have decreased by over 23% since 1990, from 377,000 deaths to 293,000 deaths. Most deaths can be attributed to infection, maternal bleeding, and obstructed labor, and their incidence of mortality vary widely internationally.[10] The Society for Maternal-fetal Medicine (SMFM) strives to improve maternal and child outcomes by standards of prevention, diagnosis and treatment through research, education and training.[11]

Maternalfetal medicine specialists are obstetrician-gynecologists who undergo an additional 3 years of specialized training in the assessment and management of high-risk pregnancies. In the United States, such obstetrician-gynecologists are certified by the American Board of Obstetrician Gynecologists (ABOG) or the American Osteopathic Board of Obstetrics and Gynecology.

Maternalfetal medicine specialists have training in obstetric ultrasound, invasive prenatal diagnosis using amniocentesis and chorionic villus sampling, and the management of high-risk pregnancies. Some are further trained in the field of fetal diagnosis and prenatal therapy where they become competent in advanced procedures such as targeted fetal assessment using ultrasound and Doppler, fetal blood sampling and transfusion, fetoscopy, and open fetal surgery.[12][13]

For the ABOG, MFM subspecialists are required to do a minimum of 12 months in clinical rotation and 18-months in research activities. They are encouraged to use simulation and case-based learning incorporated in their training, a certification in advanced cardiac life support (ACLS) is required, they are required to develop in-service examination and expand leadership training. Obstetrical care and service has been improved to provide academic advancement for MFM in-patient directorships, improve skills in coding and reimbursement for maternal care, establish national, stratified system for levels of maternal care, develop specific, proscriptive guidelines on complications with highest maternal morbidity and mortality, and finally, increase departmental and divisional support for MFM subspecialists with maternal focus. As Maternalfetal medicine subspecialists improve their work ethics and knowledge of this advancing field, they are capable of reducing the rate of maternal mortality and maternal morbidity.[14]

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Maternalfetal medicine - Wikipedia

This workshop offers guidelines for creating the first draft of a scientific research paper, as well as addressing revision strategies. You'll also learn what distinguishes a strong research paper from a weak one. The workshop presenter is Jeff Wesner, Assistant Professor, Department of Biology. DISTANCE STUDENTS: to attend live online, log into D2L and select the Online Writing Center (if you don't see the link, email wcenter@usd.edu to be added). Under Communications, select Collaborate Ultra. Then, select the link for the current workshop.

Presenter: Angela Campbell, MD, MPH, FAAP, FPIDS, FIDSA, Medical Officer, Influenza Division, Center for Disease Control, Atlanta, GALocation: Sanford USD Medical Center, Schroeder Auditorium, Videoconferenced to registered videoconferencing sites.

Company representatives will be available to discuss their job and internship opportunities and answer your questions. All majors and years welcome.

"Systems Based Practice" - Michael Wilde, M.D., FACP, Vice President Medical Officer, Sanford, Sioux Falls

Stop by to learn about a variety of internship opportunities.

South Dakota middle school and high school students take part in several scientific events throughout the USD campus starting at 9:00 am. The opening ceremony will start at 8:30 am in Aalfs Auditorium, Slagle Hall. The awards ceremony will start at 5:00 pm in Aalfs Auditorium, Slagle Hall.South Dakota Science Olympiad605-658-5973sdscienceolympiad@usd.edu

IdeaFest is an annual campus event celebrating student research, creative scholarship and academic engagement. Undergraduate and graduate students in all disciplines present their work in oral and poster presentations, live performances, readings, exhibits and displays. Keynote speakers are invited to present their involvement in similar endeavors.

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Sanford School of Medicine | USD

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head () with a . Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged () appearance. People with achondroplasia are generally of normal intelligence.

Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back () and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine () and back pain. A potentially serious complication of achondroplasia is , which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

Link:
Achondroplasia - Genetics Home Reference - NIH

Yoav Gilad, PhD

Chief, Section of Genetic Medicine

University of ChicagoDepartment of Medicine

The Section of Genetic Medicine was created over 10 years ago to both build research infrastructure in genetics within the Department of Medicine and to focus translational efforts related to genetics. As a result, the Section of Genetic Medicine is shaping the future of precision medicine with very active and successful research programs focused on the quantitative genetics, systems biology and genomics, and bioinformatics and computational biology. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine continues to shape the future of personalized medicine with successful research programs focused on the quantitative genetic and genomic science. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine conducts impactful investigations focused on quantitative genetics, systems biology and genomics, bioinformatics and computational biology. Some highlights from the past year include:

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Genetic Medicine - University of Chicago - Department of ...

Goutham Narla, MD, PhD, Chief, Division of Genetic Medicine

As use of genomic technologies continue to increase in research and clinical settings, the Division of Genetic Medicine serves a key role in bringing together basic, clinical, and translational expertise in genomic medicine, with multidisciplinary faculty comprised of MDs, PhD scientists, and genetic counselors. Demand for expertise in genetics continues to increase, and the Division of Genetic Medicine is committed to advancing scientific discovery and clinical care of patients.

In addition to our Medical Genetics Clinic, genetics services are available through several other Michigan Medicine clinics and programs, including the Breast and Ovarian Cancer Risk Evaluation Program, Cancer GeneticsClinic,Inherited Cardiomyopathies and Arrhythmias Program,Neurogenetics Clinic, Pediatric Genetics Clinic, and Prenatal Evaluation Clinic.

Our faculty are focused on various research areas including cancer genetics, inherited hematologic disorders, neural stem cells,the mechanisms and regulation of DNA repair processes in mammalian cells, predictive genetic testing,understanding the mechanisms controlled by Hox genes, birth defects, bleeding and thrombotic disorders, and human limb malformations.

Division of Genetic Medicinefaculty are actively engaged in the education, teaching, and mentorship of clinicians, and clinical and basic scientists, including undergraduate and graduate students, medical students, residents, and fellows from various subspecialties.

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Genetic Medicine | Internal Medicine | Michigan Medicine ...

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About the Fred A. Litwin Family Centre in Genetic Medicine

What does it mean to be a genetic counseling student?

At the University of South Carolina it means you become part of the team from day one: an engaged learner in our genetics center.You'll have an experienced faculty who are open door mentors in your preparation for this career.

You'll have access in the classroom and in the clinic to the geneticist and genetic counselor faculty in our clinical rotation network oftwelve genetic centers. The world of genetic counseling will unfold for you in two very busy years, preparing you to take on the dozens of roles open to genetic counselors today.

Rigorous coursework, community service, challenging clinical rotations and a research-based thesis will provide opportunity for tremendous professional growth.

We've been perfecting our curriculum formore than 30 years to connect the knowledge with the skills youll need as a genetic counselor. Our reputation for excellence is known at home and abroad. We carefully review more than 140 applications per year to select thenine students who will graduate from the School of Medicine Genetic Counseling Program. Our alumni are our proudest accomplishment and work in the best genetic centers throughout the country. They build on our foundation to achieve goals in clinical care, education, research and industry beyond what we imagined.

First in the Southeast and tenth in the nation, we are one of 39 accredited programs in the United States. We have graduatedmore than 200 genetic counselors, many of whom are leading the profession today.

Weve received highly acclaimed Commendations for Excellence from the South Carolina Commission of Higher Education. American Board of Genetic Counseling accreditation was achieved in 2000, reaccreditation in 2006 and, most recently, theAccreditation Council for Genetic Counselingreaccreditation was awarded, 2014-2022.

You'll have the chance to form lifelong partnerships with our core and clinical rotation faculty. Build your professional network with geneticists and genetic counselors throughout the Southeast.

One of our program's greatest assets is our alumni. This dedicated group regularly teaches and mentors our students,serves on our advisory board, and raises money for our endowment.You'll enjoy the instant connection when meeting other USC Genetic Counseling graduates. As a student, you'll benefit from the alumni networkand all they have to offer you. Check out our Facebook group.

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Genetic Counseling - School of Medicine | University of ...

Even with the success of the Human Genome Project, there still isn't a genetic test for every disease. A disease may run in a family and clearly be inherited, but the gene responsible may not be identified yet. Our team will see if there is a genetic test available for the condition running in your family.

If a test exists, we will find the best laboratory to use. Some laboratories offer clinical testing and must follow federal quality control standards. Clinical laboratories typically quote a fixed price and a standard return time for results.

Other laboratories offer research testing and are usually linked to academic centers and universities. They do testing at no cost in most cases. Often research laboratories do not provide results. If they do, it may take months or years to deliver results. Research test results should be confirmed in a clinical laboratory if medical management is based on the result.

Testing costs and turnaround times vary. Genetic test results are usually ready in three to four weeks. Though genetic testing costs are often paid for by insurance carriers, patients may be required to pay some or all of the cost when the test is ordered. When indicated we can write a letter of medical necessity explaining the benefits genetic testing might have for you. This can often increase the likelihood that your insurance company will pay for the testing.

Not everyone who has a genetic disease will have a mutation or a biochemical abnormality that shows up in testing. Because of this limitation, in a family it makes sense to first test someone who has had the disease in question.

If a genetic risk factor is found, ways of managing or preventing the disease due to that genetic risk can be discussed. Additionally, at-risk relatives can check their own status by testing for that specific risk factor. If that specific genetic risk factor is not found in an at-risk relative (i.e., they have a normal test result), he or she can be reassured. If the at-risk relative has a positive genetic test result, he or she has a greater chance of getting the condition. Relatives whose risk has been confirmed can start screening and prevention practices targeted for their genetic risk.

Sometimes testing a family member who has the disease isn't possible. (The person may be dead, unavailable or unwilling to be tested.) Then, an unaffected person can take the test. Finding a genetic risk factor will certainly give useful information. But a normal test result doesn't always mean there's no risk. Many genes responsible for an inherited susceptibility are not yet known. In other words, a normal test result can exclude the genetic risk factors that have been tested but not the possibility of an inherited susceptibility. It may be valuable to test other family members.

If you were to have genetic testing it would be important to interpret your test results in light of your personal and family medical history. We will also identify family members who might benefit from genetic consultation and genetic testing. If necessary, we can provide referrals for relatives outside the Denver area.

If you test positive for a genetic condition, you can better understand how this condition arose in you and your relatives. If you do not yet have symptoms, you can start to plan for the future, such as planning for a family, career, and retirement. You might want to start seeing specialists to help manage the condition. Preventive actions may be useful as well. Drugs, diet and lifestyle changes may help prevent the disease improve treatment.

Close relatives might value having this information. They can go through testing themselves to determine their disease risks and the best treatment approach.

If you test negative for a genetic risk factor that is known to run in your family you may be relieved that a major risk factor has been excluded.

Diagnosing a genetic condition does not tell us how or when the disease will develop. Although DNA-based genetic testing is very accurate, there is a chance that an inherited mutation will be missed. If a mutation is not found, the test results cannot exclude the possibility of an inherited risk since there may be a mutation in another gene for which testing was not done. If you still have symptoms of a genetic condition, a normal test result might not get you 'off the hook'. An inherited disease risk can only be excluded if a known mutation in the family has been excluded.

Family relationships may be affected by this information. If you have a genetic condition, other family members might benefit by also knowing. In the process of sharing your genetic risk information, family members may learn things about you that you do not want known. In addition, you may learn things about relatives that you did not want to know. For example, it may be revealed that a family member is adopted.

Some people find it hard to learn that they carry a gene that makes their risk of developing a disease greater. They may feel many emotions, including anger, fear about the future, anxiety about their health or guilt about passing a mutation on to their children. They may be shocked by the news. They may go through denial or a change in their self-esteem.

Knowing that you have a higher risk of getting a particular disease (when you don't currently show symptoms) may affect your ability to be insured (health, life and disability). Several state and federal laws prohibit use of genetic information by health insurance companies. In general, health insurers cannot use this information as a pre-existing condition that could disqualify you when applying for new insurance. Genetic information cannot be used to raise premium payments or to deny coverage. However, these laws are not fully comprehensive and may not entirely prevent discrimination. You may want to contact your insurance company to see what effect, if any, genetic testing may have on your coverage.

Sometimes genetic test results are uninformative or ambiguous, making it difficult or impossible to say if a person has a higher risk. These ambiguous results can be the most difficult as they don't provide a clear-cut answer.

For people with normal test results, where the genetic risk in the family has been excluded, a variety of emotions might occur. Most people feel tremendous relief. Others may feel survivor guilt, wondering why they were spared the risk. This can sometimes lead to changes in relationships between family members.

In some cases, an inherited risk for disease seems likely but the gene responsible has not yet been identified. The Adult Medical Genetics Program can help link families with researchers studying that disease. We can contact researchers for you and help you become part of the gene discovery studies. Although being part of research studies doesn't always give you answers, it does allow you to contribute to science.

Continued here:
Information about Genetic Testing | School of Medicine ...

Posted by Ardent Editor on July 23rd, 2007

One of the most promising uses for genetic modification being eyed in the future is on the field of medicine. There are a number of advances already being done in the field of genetic modification that may be able to allow researchers to someday be able to develop a wide range of medicines that will be able to treat a variety of diseases that current medicines may not be able to.

There are many ways that genetic modification can be used in the development of new medicines in the future. One of them is in the production of some human therapeutic proteins which is used to treat a variety of diseases.

Current methods of producing these valuable human proteins are through human cell cultures but that can be very costly. Human proteins can also be purified from the blood, but the process always has the risk of contamination with diseases such as Hepatitis C and the dreaded AIDS. With genetic modification, these human proteins can be produced in the milk of transgenic animals such as sheep, cattle and goats. This way, human proteins can be produced in higher volumes at less cost.

Genetic modification can also be used in producing so-called nutriceuticals. Through this genetic modification can be used in producing milk from genetically modified animals in order to improve its nutritional qualities that may be needed by some special consumers such as those people who have an immune response to ordinary milk or are lactose intolerant. That is just one of the many uses that genetic modification may be able to help the field of medicine in trying to improve the quality of life.

Other ways of using genetic modification in the field of medicine concern organ transplants. In is a known fact to day that organ transplants are not that readily available since supply for healthy organs such as kidneys and hearts are so very scarce considering the demand for it. With the help of genetic modification, the demand for additional organs for possible transplants may be answered.

Genetic modification may be able to fill up the shortfall of human organs for transplants by using transgenic pigs in order to provide the supply of vital organs ideal for human transplants. The pigs can be genetically modified by adding a specific human protein that will be able to coat pig tissues and prevent the immediate rejection of the transplanted organs into humans.

Although genetic modification may have a bright future ahead, concerns still may overshadow its continuous development. There may still be ethical questions that may be brought up in the future concerning the practice of genetic modification. And such questions already have been brought up in genetically modified foods.

And such questions may still require answers that may help assure the public that the use of genetic modification in uplifting the human quality of life is sound as well as safe enough. Public acceptance will readily follow once such questions have been satisfactorily answered.

See the article here:
Genetic Modification in Medicine | gm.org

The field of genetics has long been an object of global fascination, beginning with Mendels pea plant experiments in the 19th century and peaking when the human genome was sequenced (albeit not completely) in 2003. But epigenetics as the next level up from genetics is still mysterious to most. Efforts are already underway to make this next leap in our therapeutic understanding of DNA to unlock the potential of epigenetics.

Genetics has gone mainstream and people get really excited about it, but when I tell people I work on epigenetics, I have to explain what I do, laughed Dr. Jason Mellad, CEO of Cambridge Epigenetix.

While there has been much excitement as epigenetics advances with the development of diagnostics, therapeutic applications are still in their infancy. Historically, epigenetic discovery has been expensive, the right tools havent existed to do it, and interpreting the data has been challenging, he explained.

Mellad and his company are working to change that by establishing themselves in diagnostics to lay the groundwork for more diverse applications. Initially, we sold kits to academic researchers so that they could examine how certain enzymes regulate interpretation of the genetic code, he explained to me in an interview after ON Helix. We started there to prove ourselves and enable discovery; now we are harnessing the power of epigenetics in diagnostics and thereby laying the foundation for new therapeutics.

Cambridge Epigenetix was spun out of its eponymous university to address a challenge a colleague lobbed at Sir Shankar Balasubramanian, Professor of Medicinal Chemistry at the University of Cambridge. Professor Balasubramanian co-invented the sequencing-by-synthesis platform at the heart of Solexa, which was subsequently snapped up by DNA sequencing giant Illumina.

As Mellad recounted, the colleague noticed that a particular epigenetic enzyme, TET2, is highly mutated in acute myeloid leukemia and produces a new DNA modification called 5-hydroxymethylcytosine (5hmC). Balasubramanianwondered, could this modification be detected by sequencing and used as a novel diagnostic epigenetic biomarker?

A DNA methyltransferase, DNMT3, which transfers methyl groups in DNA to regulate gene expression and activity. Such an enzyme could serve as a target for epigenetic medicine.

Balasubramanian and his PhD student, Michael Booth, took on the challenge and developed a selective chemical oxidation methodology that made it possible to accurately and quantitatively sequence 5hmC and other methylated variants of the DNA base cytosine for the first time. On the heels of its 2012 publication in Science, Cambridge Epigenetix was born with this methodology as its foundational platform.

The following year, Mellad was recruited for business development as Employee #3. We were still camped out in the lab at that point, he told me. But it soon built up steam: After its first fundraising round in 2014, the company went on to raise a $21M (18M) Series B led by none other than Google Ventures (GV). GV was excited by the tech and the team, but they also saw the potential and long-term vision, said Mellad.

So what was this promise that Google saw in epigenetics? Big companies seem to be rushing to jump on board: AstraZeneca has already launched its own exploration of the field with MRC Technology, now known as LifeArc. Could epigenetics be the next generation of genetic medicine?

Though the field still feels brand new, there are a handful of epigenetic drugs already on the market. These drugs are largely histone deacetylase (HDAC) inhibitors targeted at T cell lymphomas; the most recent approval went to Belinostat, which was developed by a formerly Copenhagen-based company known as TopoTarget, now part of the French Onxeo.

Epigenetics has taken a particularly strong hold in the cancer niche. As scientists from Harvard Medical School and the Broad Institute discussed in a Science review last July, recent cancer genome projects [have] unexpectedly highlighted the role of epigenetic alterations in cancer development and suggested that these changes are responsible for the so-called hallmarks of cancer.

Unfortunately, HDAC inhibitors seem to have limited use in this arena. A pair of Italian researchers concluded in the British Journal of Cancer that they are effective on a small set of [cancer] patients with selected hematological diseases, but their use as a monotherapy has not been satisfactory. The efficacy of these drugs has been marred by individual sensitivities to them that are difficult to untangle such that patient stratification is not an option.

A German company, 4SC, has taken heed of such findings, combining its lead candidate resminostat with Bayers kinase inhibitor, Nexavar (sorafenib). In January, 4SC was able to show that its HDAC in tandem with this first-line liver cancer treatment reducedthe risk of death and extended patient survival from 5.1 months to 13.7 months.

The hallmarks of cancer (Source)

Carlos Buesa, Founder and CEO of Oryzon Therapeutics, is optimistic about the rise of a new generation of epigenetic treatments that his company is leading. Weve seen very recently that the second generation of epigenetic modulators could be druggable in a selective manner overcoming the problems that the old-fashioned HDAC inhibitors have gone through, he told me at BIO Europe Spring earlier this year.

His Barcelona-based company, founded in 2000, is leading the charge in this direction. Its lead candidate ORY-1001 just cleared Phase I for acute leukemia and is under investigation in small cell lung cancer. It inhibits lysine specific demethylase 1 (LSD1), which in 2004 became the first histone demethylase to be discovered of approximately 30 thus far described.

LSD1 is thought to play a role in epigenetic reprogramming during cell proliferation among other biological processes, making it an attractive target for potential cancer therapies. We know now that its key to hematopoietic differentiation in normal progenitors, and we know that in some cancers its responsible for the differentiation blockade, as in some leukemias, Buesa said.

The role of epigenetics in cancer (Source)

Oryzon presented its Phase I/IIa results at the American Society for Hematology conference last fall: ORY-1001 proved itself to be safe and likely effective, on top of indicating a number of useful biomarkers to monitor patient responses. We were the first company to ever present [clinical] results with such an inhibitor, Buesa told me proudly. More recently, 4SC launched a program to develop an LSD1 inhibitor, 4SC-202, but it has yet to enter the clinic.

For the Oryzon, much has been riding on the success of ORY-1001: Having been shown to provoke the differentiation of cancer cells accompanied by a preliminary clinical response, it now serves as the companys proof of concept.

Even though Roche abandoned the biotech when it reprioritized its portfolio, Oryzon is pressing on, so far alone. Were seeing now that this is opening a door for a personalized approach, and its giving us information about diseases that have an underlying epigenetic component, said Buesa, explaining the companys determination to move ahead.

Though approved epigenetic drugs are limited to oncology, applications to other indications are also receiving attention. A recent mouse study published by the American Society for Microbiology in mBio suggested they might work as antivirals that would be effective against Herpes Simplex Virus, while an investigation into the treatment of HIV/AIDS is still at an early stage. Various neurodegenerative diseases are also topics of interest.

In order to build a foundation for the development of such a wide range of therapeutics, Cambridge Epigenetix plans to continue its technology and diagnostic development programs to illuminate epigenetic signatures that improve our understanding of biology to develop better therapeutics, said Mellad. Whats important is to first understand the biology.

Thats the sticking point for epigenetics at the moment: as reflected in the global scarcity of biotechs in the space, its still such new territory with a largely unknown extent that effective therapeutics may be an overreach.

As an intermediate step, Cambridge Epigenetix hopes that its diagnostic assays will become standard screening practice before treatment decisions, since, as he argues, the epigenetic versions are more effective than their genetic counterparts. Were developing a companion diagnostic strategy to be used from day one to get the best efficacy and patient outcomes, Mellad told me. Genetic sequencing is informative, but epigenetics is better for monitoring and predicting responses [to treatments].

Such an addition is already an important dimension of checkpoint inhibitor regimens as pharmas like Bristol-Meyers Squibb and Merck compete to dominate the niche. BMS was quick to knock the necessary genetic test for its rivals candidate, Keytruda, as cumbersome, while its own comparatively easy drug, Opdivo, maintainednearly a half billion-dollar sales lead in the first half of 2016.

The tide turned in May this year when the FDA approved Keytruda for solid tumors with a specific genetic signature. For the first time in history, cancer was classified not by location but by the genetic mutation believed to be at its root.

Keytrudas biomarker approval changed how people see diagnostics like the ones were working on,Mellad continued, hailing the FDA decision as a milestone for not just cancer genetics but epigenetics as well. And, Mellad said, this grown-up version of genetics could be even more useful, since epigenetics provides a more nuanced view of responses to therapeutics as a mirror of the bodys dynamic response to its environment.

More and more companies are jumping on board, making epigenetics increasingly mainstream versus a niche, remarked Mellad. As personalized medicine takes hold and such drugs become more successful in the treatment of diseases like cancer, epigenetics may soon capture the public imagination following in the footsteps of its predecessor.

Images via petarg, Leigh Prather, ESB Professional / shutterstock.com

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The Next Generation of Genetic Medicine: A Review of Epigenetics - Labiotech.eu (blog)

Newswise TORONTO, September 6, 2017 The Ted Rogers Centre for Heart Research today announces that Dr. Raymond Kim is its newest scientific lead, guiding efforts at the countrys only clinic devoted to cardiac genomics.

The Ted Rogers Centre Cardiac Genome Clinic is Canadas first such program to investigate the genetic causes of heart failure in both children and adults. At one of the worlds only cardiac genome clinics, researchers use whole genome sequencing to help identify the cause, formulate appropriate treatment options and optimize the management of patients and family members.

Genomics is a major part of our mission to better understand the nature of heart failure in order to develop novel treatments and preventative strategies, said Dr. Mansoor Husain, executive director of the Ted Rogers Centre. We are excited to have Raymond on board to build a unique program that is set up to have a very positive impact on heart failure care across the lifespan.

Dr. Kim, one of a handful of dual-trained internal medicine and medical genetics specialists in Toronto, is a rising star in medical genetics. He holds appointments at the Division of Clinical and Metabolic Genetics at SickKids, at the Fred A. Litwin Family Centre in Genetic Medicine that is jointly run by UHN and Mount Sinai Hospital, and at the Princess Margaret Cancer Centre. His research interests include genomic medicine, rare disorder registries and weaving novel genetic technologies into patient care.

Dr. Kim will co-direct the Cardiac Genome Clinic along with fellow medical geneticist Dr. Rebekah Jobling (SickKids), who is medical geneticist in the SickKids Division of Clinical and Metabolic Genetics and molecular geneticist in its Genome Diagnostics Molecular Laboratory.

The clinic opens up the incredible opportunity for families facing cardiovascular issues to have a team of scientists search for answers in the genome, said Dr. Kim. Genome testing will gradually become a normalized part of care, and we are at the forefront of this evolution, and are already helping shape best practices in this area.The addition of unique team members like Dr. Jobling makes our team world-class.

Dr. Kim joins three other scientific leads of the Ted Rogers Centre for Heart Research: Dr. Seema Mital, Dr. Heather Ross, and Professor Craig Simmons who are respective experts in genetics, heart failure, and cell and tissue engineering. Together, they are helping direct a vast, collaborative effort to change the lives of Canadians who live with, or are at risk of, heart failure a costly disease that is a global epidemic.

ABOUT THE TED ROGERS CENTRE FOR HEART RESEARCH

The Ted Rogers Centre for Heart Research aims to develop new diagnoses, treatments and tools to prevent and individually manage heart failure Canadas fastest growing cardiac disease. Enabled by an unprecedented gift of $130 million from the Rogers family, the Centre was jointly conceived by its three partner organizations: The Hospital for Sick Children, University Health Network, and the University of Toronto. Together, they committed an additional $139 million toward the Centre representing a $270 million investment in basic science, translational and clinical research, innovation, and education in regenerative medicine, genomics, and the clinical care of children and adults. It is addressing heart failure across the lifespan. http://www.tedrogersresearch.ca / @trogersresearch

To transform the care of children and adults with heart failure through discovery, innovation and knowledge translation.

Read more from the original source:
New Medical Geneticists Join Ted Rogers Centre for Heart Research - Newswise (press release)

Dr. Krupp's NIH-ACMG Fellowship begins in September 2017 and will last 24 months. She will do five three-month rotations beginning at ACMG and then through the National Human Genome Research Institute (NHGRI), the National Heart, Lung and Blood Institute (NHLBI), the National Institute of Mental Health (NIMH), the National Institute on Minority Health and Health Disparities (NIMHD), and the Precision Medicine Initiative All of Us Research program, followed by a six-month elective.

"I feel privileged to be the first recipient of the NIH-ACMG Fellowship in Genomic Medicine Program Management," said Dr. Krupp. "Responsible leadership is key both to further develop our understanding of human genome variation and to best support genome based predictive medicine programs. This fellowship provides unprecedented opportunities to engage with leaders at NIH and ACMG as they provide contemporary management of such programs. This will foster leadership attributes invaluable for my career goal to contribute leadership oversight in genomic medicine research and program implementation."

Dr. Krupp earned her medical degree from the St. Louis University School of Medicine and is board certified in Anesthesiology. She completed a Pediatric Anesthesiology Fellowship at Children's Hospital and Regional Medical Center in Seattle, WA. Most recently, she was a fellow in Medical Genetics and Genomic Medicine at the University of Colorado School of Medicine. Dr. Krupp has been devoted to medical volunteer work throughout her career and has completed numerous volunteer medical assignments throughout the world including Venezuela, Peru, Haiti, Cambodia and the Dominican Republic.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, ACMG is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The American College of Medical Genetics and Genomics (www.acmg.net) provides education, resources and a voice for more than 2100 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. The College's mission is to develop and sustain genetic initiatives in clinical and laboratory practice, education and advocacy. Three guiding pillars underpin ACMG's work: 1) Clinical and Laboratory Practice: Establish the paradigm of genomic medicine by issuing statements and evidence-based or expert clinical and laboratory practice guidelines and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical geneticists, other health professionals and the public and grow the genetics workforce. 3) Advocacy: Work with policymakers and payers to support the responsible application of genomics in medical practice. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Find a Geneticist tool. The educational and public health programs of the American College of Medical Genetics and Genomics are dependent upon charitable gifts from corporations, foundations, and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Contact Kathy Beal, MBA

ACMG Media Relations,

kbeal@acmg.net

View original content:http://www.prnewswire.com/news-releases/jennifer-krupp-md-is-first-recipient-of-the-new-nih-acmg-fellowship-in-genomic-medicine-program-management-300515082.html

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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Jennifer Krupp, MD is First Recipient of the New NIH-ACMG Fellowship in Genomic Medicine Program Management - PR Newswire (press release)

Shares of Sarepta Therapeutics soared 12 percent in early trading Wednesday after the biopharmaceutical company reported positive results from a clinical trial of an experimental medicine for Duchenne muscular dystrophy.

The drug, golodirsen, would be Sarepta's second to treat the rare, genetic disease, which causes muscle wasting and can be fatal before patients turn 30. Sarepta focuses on the discovery and development of precision genetic medicines to treat rare neuromuscular diseases.

The new study, conducted in Europe, involved 25 boys with confirmed deletions of the DMD gene amenable to skipping exon 53. Exons are part of the DNA code. The treatment targets a genetic mutation affecting about 8 percent of patients with DMD.

Sarepta's first drug for DMD, Exondys 51 approved on a conditional basis by the FDA last year pending more testing to confirm results treats a mutation affecting about 13 percent. Exondys 51 costs about $300,000 per year.

"Our goal is to treat 100 percent" of DMD suffers, Sarepta CEO Doug Ingram told CNBC's "Squawk Box." "The data that we have this morning shows we're on the right path."

The results, announced before Wall Street's open bell, showed that golodirsen increased production of the protein dystrophin to 1.02 percent of normal levels from about 0.095 percent without the drug. Analysts said those results were higher than expected, but scientists wonder whether that's enough to increase muscle strength and have a clinical benefit.

According to Sarepta, the underlying cause of DMD is a mutation in the gene for dystrophin, which is an essential protein involved in muscle fiber function. DMD occurs in one in every 3,500 to 5,000 males worldwide. Symptoms usually start in early childhood, usually between 3- and 5-years old. It primarily affects boys. But in rare cases can affect girls.

"Sarepta is a small company. We have already invested $1 billion fighting Duchenne muscular dystrophy. And we're not done yet," said Ingram, who was appointed as CEO in July. Ahead of Wednesday, Sarepta had a stock market value of $2.6 billion.

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Shares of drugmaker that targets gene mutations soar after positive muscular dystrophy study - CNBC

TUESDAY, Sept. 5, 2017 (HealthDay News) -- If a gym visit elicits more grimaces than grins, you might be genetically predisposed to dislike exercise, Dutch researchers suggest.

The notion that at least part of a penchant for enjoying exercise -- or not -- may be inherited came from tracking the exercise habits and feelings of several hundred sets of identical twins, fraternal twins, and non-twin siblings between the ages of 12 and 25.

The study team further found that people who enjoyed working out spent more time doing so. And that raises the prospect that new interventions might eventually help boost exercise pleasure among those who've inherited a bias against it.

"Despite the persistent general belief that exercise makes everyone feel better, this is not always the case," said study lead author Nienke Schutte.

"There are large differences in how people feel during and after exercise," Schutte said. She's a postdoctoral researcher in the department of public and occupational health with the VU Medical Center in Amsterdam.

"In our study," she added, "we submitted healthy adolescent twin pairs to a 20-minute exercise test on a cycle and a 20-minute exercise test on a treadmill. During and after the exercise tests, we asked them to indicate how they felt."

And in the end, Schutte said, "we showed that up to 37 percent of the differences in the subjective experience of exercise was due to genetics."

The study included 115 pairs of identical twins, 111 pairs of fraternal twins and 35 of their non-twin siblings. All of the study volunteers completed a 20-minute stationary bike ride and a 20-minute treadmill run. Both were characterized as "non-vigorous," although an additional bike ride had participants (which also included six non-twin sibling pairs) ride until they were exhausted.

During each ride and run participants were asked to describe how good or bad they felt, and whether the workout made them energetic, lively, jittery or tense. Lifestyle interviews were also conducted to gauge routine exercise habits.

In the end, the research team estimated that genetic predisposition accounted for anywhere between 12 to 37 percent of the variations seen in exercise enjoyment. And the more a person said they enjoyed exercising, the more often they routinely worked out.

That said, the study authors stressed that what they identified for now is simply an association between exercise pleasure and genetics, rather than a definitive case of cause and effect.

But "an important conclusion is that a one-size-fits-all approach to get people to exercise might not be very effective," Schutte said. "Now we know that how you feel during and shortly after an exercise bout is heritable, we can look for the actual genes that are involved."

And successful identification of such genes could mean that "in the future, depending on your genetic profile, interventions [could] be tailored to set realistic person-specific exercise goals," she added.

James Maddux is an emeritus professor in psychology with George Mason University in Fairfax, Va. He said that "the findings make sense," in his opinion.

"And given the accumulating research findings on the role of genes in individual differences among people on biological and psychological factors [such as] intelligence, personality [or] self-control, I'm not at all surprised," he added.

Maddux also suggested that the mere acknowledgement of a genetic underpinning to exercise enjoyment could end up being of practical benefit, even without knowing which specific genes are involved.

"You don't need to identify the genes that may be partly responsible for individual differences in the experience of pleasure and pain during exercise in order to use descriptions of those individual differences to design individualized exercise programs," he said.

What's more, said Maddux, "knowing that there is a genetic contribution may help the high-exercise-discomfort person engage in less self-blame, which can be demoralizing and discouraging. In fact, this could be useful information for personal trainers to pass along to their high-discomfort clients. It could help both of them be a little more patient."

The study was published in the journal Psychology of Sport and Exercise.

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Hate to Work Out? Your DNA May Be to Blame - Ravalli Republic

Researchers say that certain variations of the TOMM40 gene, located on the 19th chromosome outlined above, are heavily associated with developing Alzheimer's disease. Credit: National Center for Biotechnology Information, U.S. National Library of Medicine

The notorious genetic marker of Alzheimer's disease and other forms of dementia, ApoE4, may not be a lone wolf.

Researchers from USC and The University of Manchester have found that another gene, TOMM40, complicates the picture. Although ApoE4 plays a greater role in some types of aging-related memory ability, the researchers believe that TOMM40 may pose an even greater risk for other types.

TOMM40 and APOE genes are neighbors, adjacent to each other on chromosome 19, and they are sometimes used as proxies for one another in genetic studies. At times, scientific research has focused chiefly on one APOE variant, ApoE4, as the No. 1 suspect behind Alzheimer's and dementia-related memory decline. The literature also considers the more common variant of APOE, ApoE3, neutral in risk for Alzheimer's.

USC researchers believe their new findings raise a significant research question: Has TOMM40 been misunderstood as a sidekick to ApoE4 when it is really a mastermind, particularly when ApoE3 is present?

"Typically, ApoE4 has been considered the strongest known genetic risk factor for cognitive decline, memory decline, Alzheimer's disease or dementia-related onset," said T. Em Arpawong, the study's lead author and a postdoctoral fellow in the USC Dornsife College of Letters, Arts and Sciences' Department of Psychology.

"Although prior studies have found some variants of this other gene TOMM40 may heighten the risk for Alzheimer's disease, our study found that a TOMM40 variant was actually more influential than ApoE4 on the decline in immediate memorythe ability to hold onto new information," Arpawong explained.

Studies have shown that the influence of genes associated with memory and cognitive decline intensifies with age. That is why the scientists chose to examine immediate and delayed verbal test results over time in conjunction with genetic markers.

"An example of immediate recall is someone tells you a series of directions to get somewhere and you're able to repeat them back," said Carol A. Prescott, the paper's senior author and professor of psychology at USC Dornsife and professor of gerontology at the USC Davis School of Gerontology. "Delayed recall is being able to remember those directions a few minutes later, as you're on your way."

The study was published in the journal PLOS ONE on Aug. 11.

Tracking memory loss

The team of researchers from USC and The University of Manchester used data from two surveys: the U.S. Health and Retirement Study and the English Longitudinal Study of Ageing. Both data sets are nationally representative samples and include results of verbal memory testing and genetic testing.

The research team used verbal test results from the U.S. Health and Retirement Survey, collected from 1996 to 2012, which interviewed participants via phone every two years. The researchers utilized the verbal memory test scores of 20,650 participants, aged 50 and older who were tested repeatedly to study how their memory changed over time.

To test immediate recall, an interviewer read a list of 10 nouns and then asked the participant to repeat the words back immediately. For delayed recall, the interviewer waited five minutes and then asked the participant to recall the list. Test scores ranged from 0 to 10.

The average score for immediate recall was 5.7 words out of 10, and the delayed recall scoring average was 4.5 words out of 10. A large gap between the two sets of scores can signal the development of Alzheimer's or some other form of dementia.

"There is usually a drop-off in scores between the immediate and the delayed recall tests," Prescott said. "In evaluating memory decline, it is important to look at both types of memory and the difference between them. You would be more worried about a person who has scores of 10 and 5 than a person with scores of 6 and 4."

The first person is worrisome because five minutes after reciting the 10 words perfectly, he or she can recall only half of them, Prescott said. The other person wasn't perfect on the immediate recall test, but five minutes later, was able to remember a greater proportion of words.

To prevent bias in the study's results, the researchers excluded participants who reported that they had received a likely diagnosis of dementia or a dementia-like condition, such as Alzheimer's. They also focused on participants identified as primarily European in heritage to minimize population bias. Results were adjusted for age and sex.

One key innovation of the study is that the researchers used statistical methods to create scores that represent level and decline in delayed recall, separate from level and decline in immediate recall from the repeated assessments of memory. Most of the prior studies have used a total sum score for the two, a score from a single time-point or combined recall scores with other measures of cognition to investigate overall cognitive decline. By separating these components of recall, researchers had a better chance of detecting and explaining how genes affect each of these abilities differently.

The researchers compared the U.S. data to the results of an independent replication sample of participants, age 50 and up, in the English Longitudinal Study of Aging from 2002 to 2012. Interviews and tests were conducted every two years.

Genetic markers for memory

To investigate whether genes associated with immediate and delayed recall abilities, researchers used genetic data from 7,486 participants in the U.S. Health and Retirement Study and 6,898 participants in the English Longitudinal Study of Ageing.

The researchers examined the association between the immediate and delayed recall results with 1.2 million gene variations across the human genome. Only one, TOMM40, had a strong link to declines in immediate recall and level of delayed recall. ApoE4 also was linked but not as strongly.

"Our findings indicate that TOMM40 plays a larger role, specifically, in the decline of verbal learning after age 60," the scientists wrote. "Further, our analyses showed that there are unique effects of TOMM40 beyond ApoE4 effects on both the level of delayed recall prior to age 60 and decline in immediate recall after 60."

Unlike ApoE4, the ApoE3 variant is generally thought to have no influence on Alzheimer's disease or memory decline. However, the team of scientists found that adults who had ApoE3 and a risk variant of TOMM40 were more likely to have lower memory scores. The finding suggests that TOMM40 affects memoryeven when ApoE4 is not a factor.

The team suggested that scientists should further examine the association between ApoE3 and TOMM40 variants and their combined influence on decline in different types of learning and memory.

"Other studies may not have detected the effects of TOMM40," Prescott said. "The results from this study provide more evidence that the causes of memory decline are even more complicated than we thought before, and they raise the question of how many findings in other studies have been attributed to ApoE4 that may be due to TOMM40 or a combination of TOMM40 and ApoE4."

Explore further: Education does not protect against cognitive decline

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Which genetic marker is the ring leader in the onset of Alzheimer's disease? - Medical Xpress