StemCell Therapy

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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Genetic Medicine | Department of Pediatrics | University ...

The Section of Genetic Medicine was created in May 2005 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 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 has a reputation for leading-edge research. In FY 14 the Section was awarded a large grant from the National Cancer Institute to build an Open Genomics Data Commons (OGDC)under the direction of Dr. Robert Grossman and is also home to the NIH funded Silvio O. Conte Center, led by Andrey Rzhetsky, PhD, where computational data-mining has been applied to understand the causes of neuropsychiatric disorders. We invite you to explore our website for more information about the Section.

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

This article is about genetic tests for disease and ancestry or biological relationships. For use in forensics, see DNA profiling.

Genetic testing, also known as DNA testing, allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry or biological relationship between people. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins.[1] The variety of genetic tests has expanded throughout the years. In the past, the main genetic tests searched for abnormal chromosome numbers and mutations that lead to rare, inherited disorders. Today, tests involve analyzing multiple genes to determine the risk of developing certain more common diseases such as heart disease and cancer.[2] The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.[3][4]

Because genetic mutations can directly affect the structure of the proteins they code for, testing for specific genetic diseases can also be accomplished by looking at those proteins or their metabolites, or looking at stained or fluorescent chromosomes under a microscope.[5]

This article focuses on genetic testing for medical purposes. DNA sequencing, which actually produces a sequences of As, Cs, Gs, and Ts, is used in molecular biology, evolutionary biology, metagenomics, epidemiology, ecology, and microbiome research.

Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes."[6] It can provide information about a person's genes and chromosomes throughout life. Available types of testing include:

Non-diagnostic testing includes:

Many diseases have a genetic component with tests already available.

over-absorption of iron; accumulation of iron in vital organs (heart, liver, pancreas); organ damage; heart disease; cancer; liver disease; arthritis; diabetes; infertility; impotence[15]

Obstructive lung disease in adults; liver cirrhosis during childhood; when a newborn or infant has jaundice that lasts for an extended period of time (more than a week or two), an enlarged spleen, ascites (fluid accumulation in the abdominal cavity), pruritus (itching), and other signs of liver injury; persons under 40 years of age that develops wheezing, a chronic cough or bronchitis, is short of breath after exertion and/or shows other signs of emphysema (especially when the patient is not a smoker, has not been exposed to known lung irritants, and when the lung damage appears to be located low in the lungs); when you have a close relative with alpha-1 antitrypsin deficiency; when a patient has a decreased level of A1AT.

Elevation of both serum cholesterol and triglycerides; accelerated atherosclerosis, coronary heart disease; cutaneous xanthomas; peripheral vascular disease; diabetes mellitus, obesity or hypothyroidism

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Genetic testing - Wikipedia, the free encyclopedia

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being used studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Reviewed by: Larissa Hirsch, MD Date reviewed: April 2014 Originally reviewed by: Louis E. Bartoshesky, MD, MPH

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Genetics and Genetic Testing - KidsHealth

GENETIC TESTING TIME TOOLA Resource from the American College of Preventive Medicine

CLINICAL REFERENCEThe following Clinical Reference Document provides the evidence to support the Genetic Testing Time Tool. The following bookmarks are available to move around the Clinical Reference Document. You may also download a printable version for future reference.

Human genomics, the study of structure, function, and interactions of all genes in the human genome, promises to improve the diagnosis, treatment, and prevention of disease. The proliferation of genetic tests has been greatly accelerated by the Human Genome Project over the last decade. [1]

Meanwhile, practicing physicians and health professionals need to be trained in the principles, applications, and the limitations of genomics and genomic medicine. [2]

Over 1,500 genetic tests are now available clinically, with nearly 300 more available on a research basis only. The number of genetic tests is predicted to increase by 25% annually. [3] There is a boom in the development of genetic tests using the scanning technology from the Genome Project, but questions remain regarding the validity and usefulness of these newer tests.

Genotype: The genetic constitution of the individual; the characterization of the genes. [6]

Phenotype: The observable properties of an individual that are the product of interactions between the genotype and the environment. [6] Nucleotides: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. [6]

Oligonucleotide: A relatively short single-stranded nucleic-acid chain usually consisting of 2 to 20 nucleotides that is synthesized to match a region where a mutation is known to occur, and then used as a probe. [6]

Single nucleotide polymorphism (SNP): A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. [6]

Penetrance: The probability of developing the disease in those who have the mutation. [6]

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Genetic Testing Clinical Reference For Clinicians ...

Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially "floppy." Though this can and often does improve over time, most children with DS typically reach developmental milestones like sitting up, crawling, and walking later than other kids.

At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching.

Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace which is why it's important not to compare a child with DS against typically developing siblings or even other children with the condition.

Kids with DS have a wide range of abilities, and there's no way to tell at birth what they will be capable of as they grow up.

While some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect.

Kids with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. All infants with Down syndrome should be evaluated by a pediatric cardiologist.

Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts.

Regular evaluations by an otolaryngologist (ear, nose, and throat doctor), audiologist, and an ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills.

Other medical conditions that may occur more frequently in kids with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Upper neck abnormalities are sometimes found and should be evaluated by a doctor (these can be detected by cervical spine X-rays). Fortunately, many of these conditions are treatable.

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Kids Health - Down Syndrome

CARLSBAD, Calif., June 19, 2012 /PRNewswire/ -- Life Technologies Corporation (LIFE) today announced it has partnered with The Hospital for Sick Children (SickKids) to advance pediatric genomic research on the Ion Proton Sequencer. Under the agreement, the semiconductor-based platform will be the primary instrument on which multiple clinical research samples will be mapped daily on four sequencers in the hospital's newly launched Centre for Genetic Medicine.

SickKids and Life Technologies will collaborate on developing sequencing workflows and protocols for the Ion Proton System that are tailored for studies of interest to researchers in the Centre. The first collaborative project will focus on sequencing clinical research samples to better understand the genetics behind autism, with a long-term goal to sequence up to 10,000 genomes per year to study various diseases in children.

"The perfect storm of unparalleled advances in genome sequencing technology and information science, and a captivated hospital striving for new ways to move forward in medical treatment, bring us to this important day," says the new Centre's Co-Director, Dr. Stephen Scherer, who also leads The Centre for Applied Genomics at SickKids and the University of Toronto's McLaughlin Centre. "We are very excited to work with Life Technologies to enhance our sequencing capabilities, such that 'genomic surveillance' may soon become the first line of investigation in all clinical research studies ongoing at our institution."

"Since the first published draft sequence of the human genome, our knowledge in genetics has exponentially increased," says Dr. Ronald Cohn, Co-Director of the SickKids Centre for Genetic Medicine. "With the help of this new technology, we will be able to further deepen our understanding of the genetic basis of human disease and translate this directly into daily clinical practice. We have finally reached a point, where individualized medicine is not just a theoretical concept, but will become an integral part of clinical care and management."

The Ion Proton Sequencer is designed to sequence an entire human genome in a day for $1,000. Unlike traditional next generation systems, it relies on semiconductor chips to map human exomes and genomes, making it much faster and less expensive to analyze DNA at unprecedented throughput levels and generate accurate sequencing data.

The Ion Proton Systemis based on the same proven technology as its predecessor, the Ion Personal Genome Machine (PGM), which is designed for sequencing small genomes or sets of genes. Combined with Life Technologies' AmpliSeq targeted sequencing technology, researchers can sequence panels of genes associated with disease on the PGM or exomes and genomes on the Ion Proton Sequencer in just a few hours.

"SickKids has a rich history of being at the forefront of pediatric medicine and we are pleased that its leaders have chosen the Ion Proton Sequencer as the Centre's primary technology to push the boundaries of genomics," said Mark Stevenson, President and Chief Operating Officer of Life Technologies. "Ion semiconductor technology's speed, simplicity and scalability are democratizing sequencing, and it will now be applied in disease research to benefit children."

The above mentioned technology is for research use only and not intended for human diagnostic or therapeutic use.

About Life Technologies Life Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor StatementThis press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

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The Hospital for Sick Children in Toronto Adopts Life Technologies' Ion Proton™ Sequencer to Launch New Centre for ...

CARLSBAD, Calif., May 31, 2012 /PRNewswire/ --Life Technologies Corporation (LIFE) today announced the 5500xl W Genetic Analyzer has radically simplified the next generation sequencing workflow, as well as significantly improved the economics of sequencing.The 5500xl W combines unique, rapid in-situ template preparation with the industry leading accuracy and pay-per-lane sequencing already well associated with the 5500 Series Genetic Analyzers.Now with the Wildfire upgrade, 5500 Series Genetic Analyzers are transformed into the most affordable, flexible and accurate optical-based system in the next generation sequencing marketplace.

This simple and rapid on-instrument "Wildfire" template preparation technology completely eliminates all tedious and time consuming steps associated with the previous sample preparation methodology. The Wildfire based template preparation takes only two hours and reduces the price of 5500xl sequencing by 50% - delivering the lowest price per read for any next generation sequencer. The 5500xl W upgrade is available to any existing 5500 or 5500xl Genetic Analyzer customer.

The 5500xl W Genetic Analyzer is now capable of delivering the highest number of tags of any next generation sequencer for RNA sequencing experiments. The combination of inexpensive Wildfire template preparation and, pay-per-lane functionality, also enables low price human exome sequencing.

Customers can directly experience the high quality of 5500xl W data by submitting libraries to the Life Technologies Sequencing Center, (LTSC). Researchers interested in using this service should contact SeqCenter@lifetech.com.The LTSC will perform exome or transcriptome sequencing at affordable promotional pricing. For more detailed information regarding the 5500xl W technology, including pricing, please visit http://www.lifetechnologies.com/5500xlW

Customers Experiencing the Benefits of the 5500xl WThe first 5500xl W Genetic Analyzer has now been installed and is operational in Dr. Edwin Cuppen's laboratory within the Medical Genetics Department of the University Medical Center in Utrecht, The Netherlands. The Cuppen lab works in partnership with the Hubrecht Institute and has a strong reputation for combining experimental methods, including next generation sequencing technology and animal model studies.The lab uses special bioinformatics approaches to identify functional elements in genomes and understand the effects of genetic variation under normal and disease conditions.Dr. Edwin Cuppen will be using the 5500xl W Genetic Analyzer tofocus on large scale whole genome structural variation studies.

Dr. Cuppen said "We are very excited to have 5500xl W Genetic Analyzer installed in our laboratory. The simplified workflow and dramatically increased throughput will have an enormous impact on our ongoing and future experiments. Based on our collaboration with Life Technologies, this technology will enable us to perform next generation sequencing with the best accuracy and fast and simple in-situ template preparation. We will use data from the 5500xl W Genetic Analyzer in our high throughput human structural variation study using mate-pair sequencing. This will enable us to survey dozens of genomes at high resolution and sensitivity in just a single lane."

"We are extremely grateful to Dr. Cuppen for his commitment to the 5500 platform with Wildfire technology," said Mark Gardner, vice president and general manager, 5500 business at Life Technologies. "Customers can now place orders for the Wildfire upgrade in every region, and we anticipate that many of our 5500 customers will choose to upgrade in order to take advantage of this revolutionary advancement in the system's workflow, price, and throughput.By combining pay-per-lane flexibility with Wildfire, 5500 customers will achieve the industry's lowest price per read and highest base-calling accuracy with a simple, low cost upgrade."

For research use only. Not for use in diagnostic procedures.

About Life TechnologiesLife Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor Statement This press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

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Wildfire Upgrade Shaves a Day From the Workflow, Cuts Price of Next Generation Sequencing by 50%, and Maintains ...

ASTANA, Kazakhstan, May 24, 2012 /PRNewswire/ --Sir Richard Roberts, the eminent British biologist and Nobel Prize laureate, said today European opposition to genetically modified organisms is political rather than scientific in nature.

He also said "personal medicine" based on human genome research holds large-scale promise to improve the health of the world's people on an individualized basis.

Roberts, who won the Nobel in 1993 for his shared discovery of split genes, made his remarks at the Astana Economic Forum, a global conference of scientists, academics, multinational executives and government leaders.

"On a political level, governments must embrace genetically modified organisms (GMOs) and not give way to European prophets of doom, who oppose the use of GMOs for purely political reasons," said Roberts. "It is important to note there is a complete absence of evidence that GMOs can cause any harm. Indeed to any well-informed scientist, traditionally bred plants seem much more likely to be harmful than GMOs."

Roberts predicted growing knowledge of the human genome will yield better medical treatments and diagnostics. "It is just as important that we learn more about the bacteria that colonize our bodies since they are an essential part of what it means to be human," he said.

He also predicated synthetic biology will enable scientists to build novel microorganisms from "scratch."

"Most exciting is the promise of stem cells where the challenge is to understand how they drive their differentiation into all of the other cell types in our bodies," Roberts said. "While I do not advocate prolonging life indefinitely, I am very much in favor of ensuring that as we age, the quality of our life does not diminish."

The annual Astana Economic Forum this year has drawn thousands of participants from more than 80 nations to this rapidly growing Central Asian nation. There has been much focus at the current sessions on the Greek financial crisis and turbulence in the Euro currency, in addition to the broader economic, scientific and international trade issues that are a traditional mainstay at Astana.

Deal making is a big part of both the official and the unofficial agenda at Astana. Multinationals represented include Chevron, Toyota, Nestle, Microsoft, BASF, Total, General Electric.

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Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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