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Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). Preimplantation genetic diagnosis screens embryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus.

For couples undergoing IVF, preimplantation genetic diagnosis may be recommended when:

Thousands of clinical preimplantation genetic diagnosis cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies.

Preimplantation genetic diagnosis can be used to determine if embryos produced through in vitro fertilization carry a gene mutation associated with a specific genetic disorder, such as cystic fibrosis or muscular dystrophy.

The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the genetic disorder can be selected for transfer to the uterus, therefore greatly reducing the risk that a couple will pass a genetic disorder onto their child.

Couples who are at high risk of having a child with a severe genetic disorder may choose preimplantation genetic diagnosis for many reasons, including:

Preimplantation genetic diagnosis is also offered to couples when one partner has a chromosomal abnormality, such as an unbalanced translocation or anerplocity. If the abnormality is present in the embryo, the condition could ultimately prevent embryo implantation, lead to pregnancy loss, or result in the birth of a child with congenital malformations (physical problems) or mental retardation.

The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the chromosomal abnormality can be selected for transfer to the uterus, therefore greatly reducing the risk that the pregnancy will be adversely affected by the chromosomal abnormality.

Couples who are at high risk of having a child with a chromosomal disorder may choose preimplantation genetic diagnosis for many reasons, including:

Genetic counseling is an important step to determine if preimplantation genetic diagnosis is an appropriate option for a patient. Penn Fertility Care providers work closely with the genetic counselors in Penns Division of Reproductive Genetics. For couples undergoing IVF who are concerned that their child may inherit a genetic disorder or chromosomal abnormality, genetic counselors are available to discuss options and can advise patients on how raising a handicapped child may affect a family.

Learn more about Genetic Counseling services at Penn

Preimplantation genetic diagnosis is available for couples undergoing IVF. The steps of the IVF process include:

Embryo biopsy may be performed after 3 days of culture in the laboratory. The embryos are typically 8-cell embryos on Day-3 and the process involves the removal of one to two cells.

After the biopsy and following receipt of the results from the genetic/chromosomal testing, embryo(s) of the best quality that are not affected by the genetic disorder or chromosomal abnormality) are selected for transfer to the uterus. For day 3 embryo biopsies, the embryo is usually transferred "fresh" following two additional days of culture in the laboratory (Day-5 embryo transfer).

In some cases, the biopsy will be done on either Day-5 or -6 (trophectoderm biopsy). At this stage, the embryo consists of many cells and is called a blastocyst. Cells are removed from the outer layer of cells called the trophectoderm.

Following the biopsy of a good quality blastocyst, the blastocyst is then frozen. When the patient receives the results from the genetic testing, the non-affected or chromosomally normal blastocyst(s) are thawed and transferred in a subsequent frozen embryo cycle.

Embryos are analyzed by one of the techniques described below:

Polymerase Chain Reaction (PCR) is performed on the biopsied cell(s) to determine the presence of a single gene. This is done when a couple has a significantly increased risk of conceiving a child with a severe genetic disorder. When PCR is to be performed, the cell(s) obtained at biopsy is loaded into a tiny tube of medium and sent to for analysis. The specific area of DNA of interest is amplified by making thousands of copies of the DNA through repeated cycles of DNA strand separation and replication. The sample can be analyzed for the presence of a specific sequence of DNA or gene and also for linkage markers near the gene. The biopsied cell(s) are destroyed during this process. Therefore, they cannot be used for another purpose or returned to the embryo.

The genetic material (DNA) within the biopsied cell(s) is amplified using a technique called the polymerase chain reaction (PCR). This amplification produces enough DNA to use a second technique, known as array comparative genomic hybridization (aCGH). Array CGH assesses the amount of DNA derived from each chromosome, revealing whether or not there are both a normal amount and correct number of chromosomes. The biopsied cell(s) are destroyed during this process. Therefore, they cannot be used for another purpose or returned to the embryo. aCGH can be used to screen for numeric abnormalities in all chromosomes and/or known rearrangements of chromosomes (translocations). Array CGH does not detect all types of chromosome aberrations or genetic mutations and cannot distinguish between no translocation present and balanced translocation present.

The results of preimplantation genetic diagnosis are reported to the couple no later than the morning of their scheduled day for embryo transfer. Typically this is five days after oocyte retrieval and in vitro fertilization are performed. Of the embryo(s) that are not affected by the genetic disorder or chromosomal abnormality, the best quality embryo(s) are selected for transfer to the uterus. If additional unaffected and good-quality embryos are available, they may be cryopreserved for a future embryo transfer.

No, preimplantation genetic diagnosis does not replace prenatal testing, such as chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis provides diagnostic information based on the analysis of asinglecell. Therefore, prenatal testing is still recommended and currently remains the standard of care.

Learn more about prenatal testing services at Penn

For more information about preimplantation genetic diagnosis or to schedule an appointment with a Penn Fertility Care specialist, call 800-789-PENN (7366).

Need an appointment? Request one online 24 hours/day, 7 days/week or call 800-789-PENN (7366) to speak to a referral counselor.

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preimplantation genetic diagnosis - Penn Medicine

Genomic Medicine

NHGRI defines genomic medicine as "an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use." Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

The nation's investment in the Human Genome Project (HGP) was grounded in the expectation that knowledge generated as a result of that extraordinary research effort would be used to advance our understanding of biology and disease and to improve health. In the years since the HGP's completion there has been much excitement about the potential for so-called 'personalized medicine' to reach the clinic. More recently, a report from the National Academy of Sciences [dels.nas.edu] has called for the adoption of 'precision medicine,' where genomics, epigenomics, environmental exposure, and other data would be used to more accurately guide individual diagnosis [nimh.nih.gov]. Genomic medicine, as defined above, can be considered a subset of precision medicine.

The translation of new discoveries to use in patient care takes many years. Based on discoveries over the past five to ten years, genomic medicine is beginning to fuel new approaches in certain medical specialties. Oncology, in particular, is at the leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies.

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It has often been estimated that it takes, on average, 17 years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRI Genomic Medicine Working Group (GMWG) has been gathering expert stakeholders in a series of Genomic Medicine meetings to discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical specialty, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to the National Advisory Council on Human Genome Research (NACHGR) and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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For more examples of genomic medicine advances, please see Notable Accomplishments in Genomic Medicine

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At NHGRI, the Division of Genomic Medicine administers research programs with a clinical focus. A number of research programs currently underway are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an individual's clinical care:

Within NHGRI's Division of Policy, Communications, and Education, the Policy and Program Analysis Branch (PPAB), and the Genomic Healthcare Branch (GHB) are both involved in helping pave the way for the widespread adoption of genomic medicine.

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Last Updated: March 31, 2015

Original post:
Genomic Medicine - Genome.gov

USC Institute for Genetic Medicine

The USC Institute for Genetic Medicine (IGM) is a place where researchers work closely together in a shared space to approach problems of the highest impact to human health. The IGM houses the offices and laboratories of a group of leading faculty members from the University of Southern California (USC). IGM scientists, engineers and clinicians take a multidisciplinary approach using molecular, genetic, omics, and computational technologies in human and genetic models.

The IGM is administered as a department reporting to the Dean of the Keck School of Medicine of USC. It is part of the USC Health Sciences Campus, located on the east side of Los Angeles.

The IGM comprises 21 faculty members. The department is an important research training ground for USC, and typically supports about 50 trainees at any one time. Including scientific and administrative staff, the total number of people working within the IGM hovers around 110 individuals.

IGM research is funded by federal, state, and industry-sponsored grants, as well as gifts from donors and benefactors. The major sponsor is the National Institutes of Health (NIH). The Center for Applied Molecular Medicine (CAMM) within the IGM holds a Physical Sciences in Oncology Center (PS-OC) grant from the NIHs National Cancer Institute.

Continued here:
USC Institute for Genetic Medicine

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine. The field of genetic therapies comprises gene and stem cell therapies and our laboratory has extensive expertise in both areas. Our group was the first to use a recombinant virus as a vehicle for in vivo gene therapy and we have carried out human trials of gene therapy for cystic fibrosis, cardiac ischemia, cancer and central nervous system disorders. Among the current projects are gene transfer strategies for cancer, inherited CNS disorders, 1-antitrypsin deficiency, anti-bioterrorism applications and development of vaccines. We also operate the clinical vector production laboratory of the Belfer Gene Therapy Core Facility, which has produced adenovirus and adeno-associated virus vectors that have been used in numerous human studies. Current projects in the field of stem cell therapy include characterization of the roles of cancer stem cells in lung cancer and the role of airway epithelium stem cells in chronic obstructive pulmonary disease.

Personalized medicine is the use of information and data from an individual's genotype, or level of gene expression to stratify complex diseases, select a medication or dose of a medication, provide a therapy, or initiate a preventative measure that is specifically suited to that patient. In addition to genetic information, other factors, including imaging, laboratory, and clinical information about the disease process or the patient are integrated into the process of developing personalized medicine. Our group utilizes microarray technologies for genome-wide characterization of gene expression, single nucleotide polymorphism and copy number variation profiles on clinical samples as the basis for projects aimed at indentifying candidate genes associated with complex disease such as chronic obstructive pulmonary disease.

The overall research program of the group includes close collaborations with other laboratories at Weill Cornell and elsewhere, including Malcolm Moore's group at Memorial Sloan Kettering Cancer Center for stem cell projects. Of particular note are our collaborations on personalized medicine projects with colleagues at Weill Cornell Medical College-Qatar and Hamad Medical Corporation in Doha, Qatar and collaborations on Bioinformatics and Biostatistical Genetics with several laboratories at Cornell-Ithaca, including Andy Clark and Jason Mezey.

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Department of Genetic Medicine - Weill Cornell Medical College

New NIH studies seek adults and families affected by sickle cell disease/trait People with sickle cell disease (SCD) can experience excruciating pain, kidney problems, a higher risk of stroke and, in rare cases, chronic leg ulcers. Little is known about why the severity of these symptoms varies throughout a lifetime or why these symptoms differ from person to person. NHGRI researchers are seeking help from people affected by SCD to find the factors - environmental, social and genetic - that impact the severity of the symptoms. Read more Investigational Device Exemptions (IDE) and Genomics Workshop On Friday, June 10, 2016, the National Human Genome Research Institute (NHGRI) hosted the Investigational Device Exemptions (IDE) and Genomics Workshop. The workshop brought together perspectives from investigators, institutional review boards (IRB), the FDA and NHGRI on how to determine if a study requires an IDE, and how to fulfill IDE requirements if the FDA should require an IDE for research involving the use of genomic technologies, including next-generation sequencing (NGS). View agenda The Genomics Landscape Clinical Sequencing: Beyond Exploration The Genomics Landscape for June features exciting developments with NHGRI's Clinical Sequencing Exploratory Research Program. We also highlight the new director of the National Library of Medicine, recently funded studies on the ethical, legal and social implications of genomic information, the final seminar commemorating the 25th anniversary of the launch of the Human Genome Project and available online videos for genome analysis lectures. Read more Bacterial toxins make the body go boom By outward appearances, plants and animals don't seem to have much in common. When it comes to their immune systems, however, they might be more similar than their exteriors suggest. Researchers at the National Human Genome Research Institute have discovered an immune mechanism in humans, known as a "guard" mechanism, which was once thought to exist only in plants. They've published their results in the June 6 online journal Nature Immunology. Read more Perspective: Precision medicine may move us beyond the use of race in prescribing drugs Health care providers have long struggled with considering race when prescribing and dosing medications. In a May 26 New England Journal of Medicine perspective, Vence L. Bonham, J.D., an investigator with NHGRI's Social and Behavioral Research Branch, and his colleagues, are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall. Read more

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National Human Genome Research Institute (NHGRI) - Homepage

How to manage stress when the world is filled with worry

A little stress can actually be a good thing, motivating us to work hard and get ahead, experts say. But constant stress and worry over the long haul can damage our bodies. "The stress response was made for short-term acute stress, like needing to run away from a bear or a saber tooth tiger," said David Victorson, an associate professor of medical social sciences at the Northwestern University Feinberg School of Medicine and a health psychologist at Northwestern Medicine. "It's been a part of the human process since the beginning. But stressors today can be much more chronic and we're ill equipped to deal with that.

Garfield, an associate professor of pediatrics at the Northwestern University Feinberg School of Medicine, said research on fatherhood is a fairly recent phenomenon, so it's difficult to compare dads of today with fathers in the '60s, for example. But he said change is in the air, as evidenced not only by formal studies, but by cultural phenomena such as the rise of 'dad-vertising,' in which fathers are portrayed as capable, hands-on parents, rather than workaholics or bumbling oafs.

Researchers in Illinois have unveiled the third gene linked with Parkinsons, a discovery that comes following the death of legendary boxer Muhammad Ali, who suffered from the neurodegenerative disease for three decades. Scientists findings, published Monday in Nature Genetics, suggest the genetic mutation TMEM230 was present among Parkinsons patients in North America and Asia, and had similar protein trafficking characteristics as the other two genetic mutations linked with Parkinsons, according to a Northwestern University press release. They found TMEM230 produced a protein involved in the packaging of dopamine in neurons, which is significant because Parkinsons is marked by the breakdown of dopamine-producing neurons.

Not getting a good night's sleep can result in a number of problems including poor concentration, weight gain, and a greater likelihood of accidents. For shift workers and individuals who experience chronic sleep deprivation, new research suggests insufficient sleep could also increase the risk of heart disease. In humans, as in all mammals, almost all physiological and behavioral processes, in particular the sleep-wake cycle, follow a circadian rhythm that is regulated by an internal clock located in the brain," said Daniela Grimaldi, M.D., Ph.D., lead author and a research assistant professor at Northwestern University, said in a press release. "When our sleep-wake and feeding cycles are not in tune with the rhythms dictated by our internal clock, circadian misalignment occurs."

Low-income families with children with allergies spend more than twice as much on visits to emergency rooms and hospitals than mid- to high-income families, recent research from Northwestern University found. And about 40 percent of those children surveyed also reported experiencing life-threatening reactions to food, such as trouble breathing and a drop in blood pressure. "The fact that they were able to open up a food pantry for kids who can't afford the special foods for food allergies incredible," said Dr. Ruchi Gupta, an associate professor of pediatrics who led the Northwestern study, which was published in April.

We need a lot more nonsteroidal options, and [crisaborole] looks like it may be an important addition to our armamentarium, says Jonathan Silverberg, a dermatologist at Northwestern University Feinberg School of Medicine. We have limited options for the thing we can safely give patients without worries about their long term use.

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Home: Feinberg School of Medicine: Northwestern University

What is Genomic Medicine?

NHGRI defines genomic medicine as "an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use." Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

The nation's investment in the Human Genome Project (HGP) was grounded in the expectation that knowledge generated as a result of that extraordinary research effort would be used to advance our understanding of biology and disease and to improve health. In the years since the HGP's completion there has been much excitement about the potential for so-called 'personalized medicine' to reach the clinic. More recently, a report from the National Academy of Sciences [dels.nas.edu] has called for the adoption of 'precision medicine,' where genomics, epigenomics, environmental exposure, and other data would be used to more accurately guide individual diagnosis [nimh.nih.gov]. Genomic medicine, as defined above, can be considered a subset of precision medicine.

The translation of new discoveries to use in patient care takes many years. Based on discoveries over the past five to ten years, genomic medicine is beginning to fuel new approaches in certain medical specialties. Oncology, in particular, is at the leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies.

Top of page

It has often been estimated that it takes, on average, 17 years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRI Genomic Medicine Working Group (GMWG) has been gathering expert stakeholders in a series of Genomic Medicine meetings to discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical specialty, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to the National Advisory Council on Human Genome Research (NACHGR) and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

Top of page

For more examples of genomic medicine advances, please see Notable Accomplishments in Genomic Medicine

Top of page

At NHGRI, the Division of Genomic Medicine administers research programs with a clinical focus. A number of research programs currently underway are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an individual's clinical care:

Within NHGRI's Division of Policy, Communications, and Education, the Policy and Program Analysis Branch (PPAB), and the Genomic Healthcare Branch (GHB) are both involved in helping pave the way for the widespread adoption of genomic medicine.

Top of page

Last Updated: March 31, 2015

See the original post here:
What is Genomic Medicine? - Genome.gov

The Department of Genetic Medicine at Weill Cornell Medicine is a highly specialized form of personalized medicine that involves the introduction of genetic material into a patients cells to fight or prevent disease. This experimental approach requires the use of information and data from an individual's genotype or specific DNA signature, to challenge a disease, select a medication or its dosage, provide a specific therapy, or initiate preventative measures specifically suited to the patient. While this technology is still in its infancy, gene therapy has been used with some success and offers the promise of regenerative cures.

As none of New York's premier healthcare networks, Weill Cornell Medicine's genetic research program includes close collaborations with fellow laboratories such as Memorial Sloan Kettering Cancer Center for stem cell projects, Weill Cornell Medical College in Qatar and Hamad Medical Corporation in Doha, Qatar and Bioinformatics and Biostatistical Genetics at Cornell-Ithaca.

Department of Genetic Medicine Services

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine, and we arestudying gene therapy for a number of diseases, such as combined immuno-deficiencies, hemophilia, Parkinson's, cancer and even HIV using a number of different approaches.

Patients interested in gene therapy are invited to participate in our full range of services, including:

-diagnostic testing

-imaging

-laboratory analysis

-clinical informatics

-managed therapies

In addition, we offer genetic testing to provide options for individuals and families seeking per-emptive strategies for addressing the uncertainties surrounding inherited diseases.The Department of Genetic Medicine at Weill Cornell is a pioneer in the advancement of genetics for patients and their families. These are the strengths we draw upon as we collaborate with our integrated network of partners, including the #1 hospital in New York, New York Presbyterian, to make breakthroughs a reality for our patients.

For more information or to schedule an appointment, call us toll-free at 1-855-WCM-WCMU.

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Department of Genetic Medicine (Research) | - | Weill ...

Northwestern University provides a strong foundation in core genetic counseling skills and identifies each students strengths in order to ignite the passion and lifelong commitment to learning that is critical to professional development. Graduates not only feel extremely capable in multiple clinical settings and specialties, but also recognize how valuable their training has been in preparing them for expanded genetic counseling careers.

Since the inception of the Northwestern University Graduate Program in Genetic Counseling in 1990, the leaders of the program have strived to look to the future of the genetic counseling profession to help guide the overall administration and curriculum. The field of genetics has evolved rapidly over time, and graduate programs need to be aware of the changes that will continue to shape and influence the profession. Northwestern has continued to successfully evolve to meet these changing needs. There are several strengths that allow Northwestern to maintain this cutting edge:

This unique combination, along with the personalized attention a student receives during their training, creates an exciting learning environment and is one of the major strengths of the Northwestern program. We believe our students deserve a strong science, research and psychosocial curriculum.

In addition, Northwestern is proud to offer one of the only dual degree programs available in Genetic Counseling and Medical Humanities and Bioethics.

The combination of the programs nationally recognized faculty, the diversity of clinical and patient experiences, and the cultural excitement of its location in Chicago makes this program unique, exciting and visionary!

Learn more about the program via the links below.

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Graduate Program in Genetic Counseling : Center for ...

The two year curriculum includes course work, clinical rotations, and a research-based thesis. Students are afforded a wide range of clinical opportunities in prenatal, pediatric and adult settings as well as specialty clinics through our clinical rotation network. International rotations are encouraged.

In 1991 and 1998, the Program received rare Commendation for Excellence citations from the South Carolina Commission of Higher Education. The Program was awarded American Board of Genetic Counseling accreditation in 2000 and reaccreditation in 2006. Most recently, the Accreditation Council for Genetic Counseling re-accredited the Program for the maximum eight year period, 2014-2022.

We invite you to explore the University of South Carolina Genetic Counseling Program through this site. Please also visit the National Society of Genetic Counselors, the American Board of Genetic Counseling websites to learn more about the profession. Check out the latest U.S. Department of Labor, Occupational Outlook Handbook, 2014-15 Edition projections for genetic counselors. The future is bright for genetic counselors!

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Genetic Counseling Program - University of South Carolina ...

Medicine in the post-genomic era

Genome Medicine publishes peer-reviewed research articles, new methods, software tools, reviews and comment articles in all areas of medicine studied from a post-genomic perspective. Areas covered include, but are not limited to, disease genomics (including genome-wide association studies and sequencing-based studies), disease epigenomics, pathogen and microbiome genomics, immunogenomics, translational genomics, pharmacogenomics and personalized medicine, proteomics and metabolomics in medicine, systems medicine, and ethical, legal and social issues.

There has been an error retrieving the data. Please try again.

DNA-PK inhibition boosts Cas9-mediated HDR

Transient pharmacological inhibition of DNA-PKcs can stimulate homology-directed repair following Cas9-mediated induction of a double strand break, and is expected to reduce the downstream workload.

Genomics of epilepsy

Candace Myers and Heather Mefford review how advances in genomic technologies have aided variant discovery, leading to a rapid increase in our understanding of epilepsy genetics.

CpG sites associated with atopy

Thirteen novel epigenetic loci associated with atopy and high IgE were found that could serve 55 as candidate loci; of these, four were within genes with known roles in the immune response.

Longitudinal 'omic profiles

A pilot study quantifying gene expression and methylation profile consistency over a year shows high longitudinal consistency, with individually extreme transcript abundance in a small number of genes which may be useful for explaining medical conditions or guiding personalized health decisions.

Ovarian cancer landscape

Exome sequencing of mucinous ovarian carcinoma tumors reveals multiple mutational targets, suggesting tumors arise through many routes, and shows this group of tumors is distinct from other subtypes.

NGS-guided cancer therapy

Jeffrey Gagan and Eliezer Van Allen review how next-generation sequencing can be incorporated into standard oncology clinical practice and provide guidance on the potential and limitations of sequencing.

ClinLabGeneticist

A platform for managing clinical exome sequencing data that includes data entry, distribution of work assignments, variant evaluation and review, selection of variants for validation, report generation.

Semantic workflow for clinical omics

A clinical omics analysis pipeline using the Workflow Instance Generation and Specialization (WINGS) semantic workflow platform demonstrates transparency, reproducibility and analytical validity.

Stephen McMahon and colleagues review treatments for pain relief, which are often inadequate, and discuss how understanding of the genomic and epigenomic mechanisms might lead to improved drugs.

View more review articles

Exploiting single-molecule transcript sequencing for eukaryotic gene prediction

Minoche AE, Dohm JC, Schneider J, Holtgrwe D, Viehver P, Montfort M, Rosleff Srensen T, Weisshaar B et al.

Genome Biology 2015, 16:184

Analysis methods for studying the 3D architecture of the genome

Ay F and Noble WS

Genome Biology 2015, 16:183

Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies

Ruzycki PA, Tran NM, Kefalov VJ, Kolesnikov AV and Chen S

Genome Biology 2015, 16:171

Predicting the spatial organization of chromosomes using epigenetic data

Mourad R and Cuvier O

Genome Biology 2015, 16:182

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Genome Medicine

Graduate Medical Education (GME): Medical Genetics

Maximilian Muenke, MD

Eligibility CriteriaCandidates with the MD degree must have completed an accredited U.S. residency training program and have a valid U.S. license. Previous training is usually in, but not limited to, Pediatrics, Internal Medicine or Obstetrics and Gynecology.

OverviewThe NIH has joined forces with training programs at the Children's National Medical Center, George Washington University School of Medicine and Washington Hospital Center. The combined training program in Medical Genetics is called the Metropolitan Washington, DC Medical Genetics Program. This is a program of three years duration for MDs seeking broad exposure to both clinical and research experience in human genetics.

The NIH sponsor of the program is National Human Genome Research Institute (NHGRI). Other participating institutes include the National Cancer Institute (NCI), the National Eye Institute (NEI), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Child Health and Human Development (NICHD), the National Institute on Deafness and Other Communication Disorders (NIDCD), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and the National Institute of Mental Health (NIMH). Metropolitan area participants include Children's National Medical Center (George Washington University), Walter Reed Army Medical Center, and the Department of Pediatrics, and the Department of Obstetrics and Gynecology at Washington Hospital Center. The individual disciplines in the program include clinical genetics, biochemical genetics, clinical cytogenetics, and clinical molecular genetics.

The primary goal of the training program is to provide highly motivated physicians with broad exposure to both clinical and research experiences in medical genetics. We train candidates to become effective, independent medical geneticists, prepared to deliver a high standard of clinical genetics services, and to perform state-of-the-art research in the area of genetic disease.

Structure of the Clinical Training Program

RotationsThis three year program involves eighteen months devoted to learning in clinical genetics followed by eighteen months of clinical or laboratory research.

Year 1Six months will be spent on rotation at the NIH. Service will include time spent on different outpatient genetics clinics, including Cancer Genetics and Endocrine Disorders and Genetic Ophthalmology; on the inpatient metabolic disease and endocrinology ward; on inpatient wards for individuals involved in gene therapy trials; and on the NIH Genetics Consultation Service.

Three months will be spent at Children's National Medical Center and will be concentrated on pediatric genetics. Fellows will participate in outpatient clinics, satellite and outreach clinics. They will perform consults on inpatients and patients with metabolic disorders and on the neonatal service. Fellows will be expected to participate in the relevant diagnostic laboratory studies on patients for whom they have provided clinical care.

One month will be spent at Walter Reed Army Medical Center and will concentrate on adult and pediatric clinical genetics. One month will be spent at Washington Hospital Center on rotations in prenatal genetics and genetic counseling.

Year 2 Fellows will spend one month each in clinical cytogenetics, biochemical genetics, and molecular diagnostic laboratories. The remaining three months will be devoted to elective clinical rotations on any of the rotations previously mentioned. The second six months will be spent on laboratory or clinical research. The fellow will spend at least a half-day per week in clinic at any one of the three participating institutions.

Year 3This year will be devoted to research, with at least a half day per week in clinic.

NIH Genetics Clinic (Required)Fellows see patients on a variety of research protocols. The Genetics Clinic also selectively accepts referrals of patients requiring diagnostic assessment and genetic counseling. Areas of interest and expertise include: chromosomal abnormalities, congenital anomalies and malformation syndromes, biochemical defects, bone and connective tissue disorders, neurological disease, eye disorders, and familial cancers.

Inpatient Consultation Service (Required)Fellows are available twenty-four hours daily to respond to requests for genetics consultation throughout the 325-bed hospital. Written consultation procedures call for a prompt preliminary evaluation, a written response within twenty-four hours, and a subsequent presentation to a senior staff geneticist, with an addendum to the consult, as needed. The consultant service fellow presents the most interesting cases from the wards during the Post-Clinic Patient Conference on Wednesday afternoons during which Fellows present interesting clinical cases for critical review. Once a month the fellow presents relevant articles for journal club.

Metropolitan Area Genetics Clinics

Other Clinical Opportunities: Specialty Clinics at NIHThe specialty clinics of NIH treat a large number of patients with genetic diseases. We have negotiated a supervised experience for some of the fellows at various clinics; to date, fellows have participated in the Cystic Fibrosis Clinic, the Lipid Clinic, and the Endocrine Clinic.

Lectures, Courses and SeminarsThe fellowship program includes many lectures, courses and seminars. Among them are a journal club and seminars in medical genetics during which invited speakers discuss research and clinical topics of current interest. In addition, the following four courses have been specifically developed to meet the needs of the fellows:

Trainees are encouraged to pursue other opportunities for continuing education such as clinical and basic science conferences, tutorial seminars, and postgraduate courses, which are plentiful on the NIH campus.

Structure of the Research Training ProgramFellows in the Medical Genetics Program pursue state-of-the-art research related to genetic disorders. Descriptions of the diverse interests of participating faculty are provided in this catalog. The aim of this program is to provide fellows with research experiences of the highest caliber and to prepare them for careers as independent clinicians and investigators in medical genetics.

Fellows entering the program are required to select a research supervisor which may be from among those involved on the Genetics Fellowship Faculty Program. It is not required that this selection be made before coming to NIH.

In addition to being involved in research, all fellows attend and participate in weekly research seminars, journal clubs and laboratory conferences, which are required elements of each fellow's individual research experience.

Program Faculty and Research Interests

Examples of Papers Authored by Program Faculty

Program GraduatesThe following is a partial list of graduates including their current positions:

Application Information

The NIH/Metropolitan Washington Medical Genetics Residency Program is accredited by the ACGME and the American Board of Medical Genetics. Upon successful completion of the three year program, residents are eligible for board certification in Clinical Genetics. During the third residency year, residents may elect to complete either (a) the requirements for one of the ABMG laboratory subspecialties, such as Clinical Molecular Genetics, Clinical Biochemical Genetics or Clinical Cytogenetics, or (b) a second one year residency program (e.g., Medical Biochemical Genetics).

Candidates should apply through ERAS, beginning July 1 of the year prior to their anticipated start date. Candidates with the MD or MD and PhD degree must have completed a U.S. residency in a clinically related field. Previous training is usually in, but not limited to, Pediatrics, Internal Medicine or Obstetrics and Gynecology. Four new positions are available each year. Interviews are held during August and September.

Electronic Application The quickest and easiest way to find out more about this training program or to apply for consideration is to do it electronically.

The NIH is dedicated to building a diverse community in its training and employment programs.

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NIH Clinical Center: Graduate Medical Education (GME ...

Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

A compilation of data from the NIAID Influenza Genome Sequencing Project and GenBank. It provides tools for flu sequence analysis, annotation and submission to GenBank. This resource also has links to other flu sequence resources, and publications and general information about flu viruses.

A portal to information about medical genetics. MedGen includes term lists from multiple sources and organizes them into concept groupings and hierarchies. Links are also provided to information related to those concepts in the NIH Genetic Testing Registry (GTR), ClinVar,Gene, OMIM, PubMed, and other sources.

A database of human genes and genetic disorders. NCBI maintains current content and continues to support its searching and integration with other NCBI databases. However, OMIM now has a new home at omim.org, and users are directed to this site for full record displays.

A database of citations and abstracts for biomedical literature from MEDLINE and additional life science journals. Links are provided when full text versions of the articles are available via PubMed Central (described below) or other websites.

A digital archive of full-text biomedical and life sciences journal literature, including clinical medicine and public health.

A collection of clinical effectiveness reviews and other resources to help consumers and clinicians use and understand clinical research results. These are drawn from the NCBI Bookshelf and PubMed, including published systematic reviews from organizations such as the Agency for Health Care Research and Quality, The Cochrane Collaboration, and others (see complete listing). Links to full text articles are provided when available.

A collection of resources specifically designed to support the research of retroviruses, including a genotyping tool that uses the BLAST algorithm to identify the genotype of a query sequence; an alignment tool for global alignment of multiple sequences; an HIV-1 automatic sequence annotation tool; and annotated maps of numerous retroviruses viewable in GenBank, FASTA, and graphic formats, with links to associated sequence records.

A summary of data for the SARS coronavirus (CoV), including links to the most recent sequence data and publications, links to other SARS related resources, and a pre-computed alignment of genome sequences from various isolates.

An extension of the Influenza Virus Resource to other organisms, providing an interface to download sequence sets of selected viruses, analysis tools, including virus-specific BLAST pages, and genome annotation pipelines.

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Genetics & Medicine - National Center for Biotechnology ...

The medical genetics of Jews is the study, screening, and treatment of genetic disorders more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly well-studied, resulting in the discovery of many genetic disorders associated with this ethnic group. In contrast, the medical genetics of Sephardic Jews and Mizrahi Jews are more complicated, since they are more genetically diverse and consequently no genetic disorders are more common in these groups as a whole; instead, they tend to have the genetic diseases common in their various countries of origin.[1][2] Several organizations, such as Dor Yeshorim,[3] offer screening for Ashkenazi genetic diseases, and these screening programs have had a significant impact, in particular by reducing the number of cases of TaySachs disease.[4]

Different ethnic groups tend to suffer from different rates of hereditary diseases, with some being more common, and some less common. Hereditary diseases, particularly hemophilia, were recognized early in Jewish history, even being described in the Talmud.[5] However, the scientific study of hereditary disease in Jewish populations was initially hindered by scientific racism, which believed in racial supremacism.[6][7]

However, modern studies on the genetics of particular ethnic groups have the tightly defined purpose of avoiding the birth of children with genetic diseases, or identifying people at particular risk of developing a disease in the future.[6] Consequently, the Jewish community has been very supportive of modern genetic testing programs, although this unusually high degree of cooperation has raised concerns that it might lead to the false perception that Jews are more susceptible to genetic diseases than other groups of people.[5]

However, most populations contain hundreds of alleles that could potentially cause disease and most people are heterozygotes for one or two recessive alleles that would be lethal in a homozygote.[8] Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) is common in some Jewish communities, which produces a small increase in the number of children with congenital defects.[9]

According to Daphna Birenbaum Carmeli at the University of Haifa, Jewish populations have been studied more thoroughly than most other human populations because:[10]

The result is a form of ascertainment bias. This has sometimes created an impression that Jews are more susceptible to genetic disease than other populations. Carmeli writes, "Jews are over-represented in human genetic literature, particularly in mutation-related contexts."[10] Another factor that may aid genetic research in this community is that Jewish culture results in excellent medical care, which is coupled to a strong interest in the community's history and demography.[11]

This set of advantages have led to Ashkenazi Jews in particular being used in many genetic studies, not just in the study of genetic diseases. For example, a series of publications on Ashkenazi centenarians established their longevity was strongly inherited and associated with lower rates of age-related diseases.[12] This "healthy aging" phenotype may be due to higher levels of telomerase in these individuals.[13]

The most detailed genetic analysis study of Ashkenazi was published in September 2014 by Shai Carmon and his team at Columbia University. The results of the detailed study show that today's 10 million Ashkenai Jews descend from a population only 350 individuals who lived about 600-800 years ago. That population derived from both Europe and the Middle East. [14]There is evidence that the population bottleneck may have allowed deleterious alleles to become more prevalent in the population due to genetic drift.[15] As a result, this group has been particularly intensively studied, so many mutations have been identified as common in Ashkenazis.[16] Of these diseases, many also occur in other Jewish groups and in non-Jewish populations, although the specific mutation which causes the disease may vary between populations. For example, two different mutations in the glucocerebrosidase gene causes Gaucher's disease in Ashkenazis, which is their most common genetic disease, but only one of these mutations is found in non-Jewish groups.[4] A few diseases are unique to this group; for example, familial dysautonomia is almost unknown in other populations.[4]

TaySachs disease, a fatal illness of children that causes mental deterioration prior to death, was historically more prevalent among Ashkenazi Jews,[18] although high levels of the disease are also found in some Pennsylvania Dutch, southern Louisiana Cajun, and eastern Quebec French Canadian populations.[19] Since the 1970s, however, proactive genetic testing has been quite effective in eliminating TaySachs from the Ashkenazi Jewish population.[20]

Gaucher's disease, in which lipids accumulate in inappropriate locations, occurs most frequently among Ashkenazi Jews;[21] the mutation is carried by roughly one in every 15 Ashkenazi Jews, compared to one in 100 of the general American population.[22] Gaucher's disease can cause brain damage and seizures, but these effects are not usually present in the form manifested among Ashkenazi Jews; while sufferers still bruise easily, and it can still potentially rupture the spleen, it generally has only a minor impact on life expectancy.

Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of lipid storage disorders. Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis[23] and NiemannPick disease,[24] the latter of which can prove fatal.

The occurrence of several lysosomal storage disorders in the same population suggests the alleles responsible might have conferred some selective advantage in the past.[25] This would be similar to the hemoglobin allele which is responsible for sickle-cell disease, but solely in people with two copies; those with just one copy of the allele have a sickle cell trait and gain partial immunity to malaria as a result. This effect is called heterozygote advantage.[26]

Some of these disorders may have become common in this population due to selection for high levels of intelligence (see Ashkenazi intelligence).[27][28] However, other research suggests no difference is found between the frequency of this group of diseases and other genetic diseases in Ashkenazis, which is evidence against any specific selectivity towards lysosomal disorders.[29]

Familial dysautonomia (RileyDay syndrome), which causes vomiting, speech problems, an inability to cry, and false sensory perception, is almost exclusive to Ashkenazi Jews;[30] Ashkenazi Jews are almost 100 times more likely to carry the disease than anyone else.[31]

Diseases inherited in an autosomal recessive pattern often occur in endogamous populations. Among Ashkenazi Jews, a higher incidence of specific genetic disorders and hereditary diseases have been verified, including:

In contrast to the Ashkenazi population, Sephardic and Mizrahi Jews are much more divergent groups, with ancestors from Spain, Portugal, Morocco, Tunisia, Algeria, Italy, Libya, the Balkans, Iran, Iraq, India, and Yemen, with specific genetic disorders found in each regional group, or even in specific subpopulations in these regions.[1]

One of the first genetic testing programs to identify heterozygote carriers of a genetic disorder was a program aimed at eliminating TaySachs disease. This program began in 1970, and over one million people have now been screened for the mutation.[46] Identifying carriers and counseling couples on reproductive options have had a large impact on the incidence of the disease, with a decrease from 4050 per year worldwide to only four or five per year.[4] Screening programs now test for several genetic disorders in Jews, although these focus on the Ashkenazi Jews, since other Jewish groups cannot be given a single set of tests for a common set of disorders.[2] In the USA, these screening programs have been widely accepted by the Ashkenazi community, and have greatly reduced the frequency of the disorders.[47]

Prenatal testing for several genetic diseases is offered as commercial panels for Ashkenazi couples by both CIGNA and Quest Diagnostics. The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease, and torsion dystonia. The Quest panel is for parental/preconception testing and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Neimann-Pick disease types A and B and Tay-Sachs disease.

The official recommendations of the American College of Obstetricians and Gynecologists is that Ashkenazi individuals be offered screening for Tay Sachs, Canavan, cystic fibrosis, and familial dysautonomia as part of routine obstetrical care.[48]

In the orthodox community, an organization called Dor Yeshorim carries out anonymous genetic screening of couples before marriage to reduce the risk of children with genetic diseases being born.[49] The program educates young people on medical genetics and screens school-aged children for any disease genes. These results are then entered into an anonymous database, identified only by a unique ID number given to the person who was tested. If two people are considering getting married, they call the organization and tell them their ID numbers. The organization then tells them if they are genetically compatible. It is not divulged if one member is a carrier, so as to protect the carrier and his or her family from stigmatization.[49] However, this program has been criticized for exerting social pressure on people to be tested, and for screening for a broad range of recessive genes, including disorders such as Gaucher's disease.[3]

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Medical genetics of Jews - Wikipedia, the free encyclopedia

What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome, the person's entire genetic makeup. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single gene).

Some examples of monogenetic disorders include:

Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

Medically Reviewed by a Doctor on 5/21/2015

Genetic Disease - Symptoms Question: What were the symptoms of a genetic disease in you or a relative?

Genetic Disease - Screening Question: Have you been screened for a genetic disease? Please share your story.

Genetic Disease - Personal Experience Question: Is there a genetic disease in your family? Please share your experience.

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Genetic Disease: Get the Definition of These Disorders

BCH Division of Genetics and Genomics Seminar

Generating Cartilage from Human Pluripotent Stem Cells: A Developmental Approach.

Special Seminar

How Neurons Talk to the Blood: Sensory Regulation of Hematopoiesis in the Drosophila Model

Genetics Seminar Series

Neural Reprogramming of Germline Cells and Trans-Generational Memory in Drosophila

BCH Division of Genetics and Genomics Seminar

Genetics Seminar Series - Focused Seminars

Reflecting the breadth of the field itself, the Department of Genetics at Harvard Medical School houses a faculty working on diverse problems, using a variety of approaches and model organisms, unified in their focus on the genome as an organizing principle for understanding biological phenomena. Genetics is not perceived simply as a subject, but rather as a way of viewing and approaching biological phenomena.

While the range of current efforts can best be appreciated by reading the research interests of individual faculty, the scope of the work conducted in the Department includes (but is by no means limited to) human genetics of both single gene disorders and complex traits, development of genomic technology, cancer biology, developmental biology, signal transduction, cell biological problems, stem cell biology, computational genetics, immunology, synthetic biology, epigenetics, evolutionary biology and plant biology.

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Home | HMS Department of Genetics

Advances in molecular biology and human genetics, coupled with the completion of the Human Genome Project and the increasing power of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in the practice of medicine. In the 21st century, practicing physicians will focus more on defining genetically determined disease susceptibility in individual patients. This strategy will be used to prevent, modify, and treat a wide array of common disorders that have unique heritable risk factors such as hypertension, obesity, diabetes, arthrosclerosis, and cancer.

The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease. The Division faculty work jointly with the Vanderbilt-Ingram Cancer Center to support the Hereditary Cancer Clinic for treating patients and families who have an inherited predisposition to various malignancies.

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Genetic Medicine : Division Home | Department of Medicine

Medical Genetics Faculty, Fellows & Staff: 2014

The University of Washington Department of Medicine is recruiting for one (1) full-time faculty position at the Associate Professor, or Professor level in the Division of Medical Genetics, Department of Medicine. This position is offered with state tenure funding.

Successful candidates for this position will have an M.D./Ph.D. or M.D. degree (or foreign equivalent), clinical expertise in genetics, and will be expected to carry out a successful research program. Highly translational PhD (or foreign equivalent) scientists may be considered. Although candidates with productive research programs in translational genetics/genomics and/or precision medicine will be prioritized, investigators engaged in gene therapy research may also be considered.

The position will remain open until filled. Send CV and 1-2 page letter of interest to:

Medical Genetics Faculty Search c/o Sara Carlson Division of Medical Genetics University of Washington seisner@u.washington.edu

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Medical Genetics at University of Washington

Welcome to Genetics in Medicine

Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine. Stay tuned for cutting-edge clinical research in areas such as genomics, chromosome abnormalities, metabolic diseases, single gene disorders and genetic aspects of common complex diseases.

For detailed information about how to prepare your article and our editorial policies, please refer to our Instructions for Authors.

Volume 17, No 7 July 2015 ISSN: 1098-3600 EISSN: 1530-0366

2014 Impact Factor 7.329* 15/167 Genetics & Heredity

Editor-in-Chief: James P. Evans, MD, PhD

*2014 Journal Citation Reports Science Edition (Thomson Reuters, 2015)

This month's GenePod explores how genomic testing might be used to close the disparity for individuals who have little or no access to family medical history, which puts them at a clear disadvantage with regard to aspects of their medical care. Tune in to July's GenePod, or subscribe now!

Join the Genetics in Medicine community on Twitter and Facebook for the latest research and news!

View the most recent special issue on incidental findings, and many other special issues!

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Genetics in Medicine

Leadership

Michael Bamshad, MD Professor Division Chief

The Division of Genetic Medicine is committed to providing an outstanding level of patient care, education and research. The faculty have diverse interests and are drawn from several disciplines including clinical genetics, molecular genetics, biochemical genetics, human embryology/teratology and neurology.

A large clinical program of medical genetics operates from Seattle Childrens Hospital staffed by faculty from the Division. These clinical activities concentrate on pediatric genetics but also encompass adult and fetal consultations. At Seattle Children's full IP consultations are available and general genetics clinics occur regularly. Consultative services are also provided to the University of Washington Medical Center and Swedish Hospital. In addition, a variety of interdisciplinary clinical services are provided at Childrens including cardiovascular genetics, skeletal dysplasia, neurofibromatosis, craniofacial genetics, gender disorders, neurogenetics and biochemical genetics as well as others. A very large regional genetics service sponsored by state Departments of Health are provided to multiple outreach clinical sites in both Alaska and Washington.

Our research holds the promise for both continued development of improved molecular diagnostic tools and successful treatment of inherited diseases. Research in the Division is highly patient-driven. It often begins with a physician identifying a particular patients problems and subsequently taking that problem into a laboratory setting for further analysis. The Division has a strong research focus with established research programs in medical genetics information systems, neurogenetic disorders, fetal alcohol syndrome, neuromuscular diseases, human teratology, population genetics/evolution and gene therapy.

The Division offers comprehensive training for medical students, residents, and postdoctoral fellows in any of the areas of our clinical and research programs relevant to medical genetics. Medical Genetics Training Website

Margaret L.P. Adam, MD Associate Professor mpa5@u.washington.edu

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