Genetic Counseling Program – University of South Carolina …

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 …

Genetic Medicine Clinic

We offer unparalleled clinical treatment, counseling, risk assessment and access to comprehensive genetic testing. Our goal is to improve the life of our patients by directing their care through the use of genetic information and modern technology. As the largest Online Genetics Service in the World we are a single resource for the care, management and testing for those with genetic disease.

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Genetic Medicine Clinic

Genome Medicine

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.

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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

Errors in RNA-Seq quantification affect genes of relevance to human disease

Robert C and Watson M

Genome Biology 2015, 16:177

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

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Genome Medicine

NIH Clinical Center: Graduate Medical Education (GME …

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.

NOTE: PDF documents require the free Adobe Reader.

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NIH Clinical Center: Graduate Medical Education (GME …

Genetics | Genetics | Stanford Medicine

An underlying theme in our Department is that genetics is not merely a set of tools but a coherent and fruitful way of thinking about biology and medicine. To this end, we emphasize a spectrum of approaches based on molecules, organisms, populations, and genomes. We provide training through laboratory rotations, dissertation research, seminar series, didactic and interactive coursework, and an annual three-day retreat of nearly 200 students, faculty, postdoctoral fellows, and research staff. The mission of the Department includes education and teaching as well as research; graduates from our program pursue careers in many different venues including research in academic or industrial settings, health care, health policy, and education. We are especially committed to increasing diversity within the program, and to the training of individuals from traditionally underrepresented minority groups to apply.

#1 Graduate School in Genetics/Genomics/Bioinformatics byU.S. News

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Genetics | Genetics | Stanford Medicine

Genetics and Genetic Testing – KidsHealth

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 – Wikipedia, the free encyclopedia

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

Journal of Medical Genetics – BMJ Journals

Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications.

The journal has been adopted as the official journal of the Canadian College of Medical Geneticists.

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Journal of Medical Genetics – BMJ Journals

University of Miami – The Dr. John T. Macdonald Foundation …

Our mission is to become a world renowned Center of Excellence in the areas of human genetics, genomic research and clinical genomic medicine. Using clinically advanced technology, state-of-the-art equipment and highly trained professionals, we aim to uncover the genetic contributions to disease, apply our findings to better patient care, and educate the geneticists and genomicists of tomorrow.

Established through the generous support of the Dr. John T. Macdonald Foundation, we are committed to the identification of genes and gene networks that cause diseases. We are in an extraordinary period of growth, especially since the completion of the Human Genome Project in 2003. Our recognition spans far beyond traditional single-gene disorders such as sickle cell anemia and cystic fibrosis, and now encompasses knowledge associated with complex conditions such as autism, Alzheimers disease and Parkinson disease.

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University of Miami – The Dr. John T. Macdonald Foundation …

Home | HMS Department of Genetics

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

Department of Genetics – Stanford University School of …

Altman Lab

The Helix Group at Stanford is directed by Russ Altman.

The Ashley lab is focused on the application of genomics to medicine.

Attardi Lab

The overarching goal of our research is to better define the mechanisms by which the p53 protein promotes different responses in different settings.

Baker Lab

Cellular differentiation is governed by dynamic changes occurring in the genome.

Barna Lab

We study how the genome is translated into morphology through a ribosome code and single cell imaging of tissue patterning.

Bhatt Lab

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Department of Genetics – Stanford University School of …

Medical Genetics at University of Washington

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

ESPERITE (ESP) validates SERENITY, the breast and ovarian cancer risk screening test that sequences the entire BRCA1 …

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ESPERITE (ESP) validates SERENITY, the breast and ovarian cancer risk screening test that sequences the entire BRCA1 …

NorthShore University HealthSystem Launches Comprehensive Center for Personalized Medicine, Ushering in New Era in …

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NorthShore University HealthSystem Launches Comprehensive Center for Personalized Medicine, Ushering in New Era in …

Genelex Enables Genetic Risk Analysis and Precision Medicine in EHRs and Population Health Software with New APIs

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Genelex Enables Genetic Risk Analysis and Precision Medicine in EHRs and Population Health Software with New APIs

Aetna, Cigna balk as Angelina effect spurs genetic cancer testing

Medical researchers call it the “Angelina Effect,” the surge in demand for genetic testing attributable to movie star Angelina Jolie’s public crusade for more aggressive detection of hereditary breast and ovarian cancer.

But there’s a catch: Major insurance companies including Aetna, Anthem and Cigna are declining to pay for the latest generation of tests, known as multi-gene panel tests, Reuters has learned. The insurers say that the tests are unproven and may lead patients to seek out medical care they don’t need.

That’s a dangerous miscalculation, a range of doctors, genetic counselors, academics and diagnostics companies said. While they acknowledge that multi-gene tests produce data that may not be useful from a diagnostic standpoint, they say that by refusing or delaying coverage, insurance companies are endangering patients who could be undergoing screenings or changing their diets if they knew about the possible risks.

The tests have come a long way since Jolie, 39, went public in 2013, revealing that she underwent a double mastectomy after a genetic test found she carried mutations in the BRCA1 and BRCA2 genes, indicating a high risk of breast and ovarian cancer. She disclosed last month that she had her ovaries and fallopian tubes removed.

The new panel tests, which can cost between $2,000 to $4,900, analyze 20 or more genes at once. That allows healthcare professionals to establish possible DNA links to other cancer-related conditions such as Lynch syndrome and Li-Fraumeni Syndrome earlier. Humans have about 23,000 genes.

Susan Kutner, a surgeon at a Kaiser Permanente hospital in San Jose, California, who serves on a U.S. Centers for Disease Control and Prevention advisory committee on young women and breast cancer, said more women with a family history of cancer should be able get these tests.

“If we have members who are not being tested in a timely manner, we know that their risk of cancer in the long run costs us and them a lot more,” Kutner said.

Kaiser, which insures its own members, covers panel tests for patients with family histories of cancer.

That’s not so at three of the four largest managed care companies. Aetna Inc, Anthem Inc and Cigna Corp state in their policies that in most cases they don’t cover multi-gene panel tests. The fourth, UnitedHealth Group, covers the tests if patients meet certain criteria.

All insurers cover screenings for BRCA1 and BRCA2 and for certain other genes for women who have family histories of cancer. Indeed, such coverage is mandated by the Affordable Care Act, known as Obamacare.

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Aetna, Cigna balk as Angelina effect spurs genetic cancer testing

Likely genetic source of muscle weakness found in six previously undiagnosed children

Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child’s rare type of severe muscle weakness.

The child was one of six cases in which TGen sequenced — or decoded — the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child’s symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine.

“In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing — often over many years — without a successful diagnosis, until they enrolled in our study,” said Dr. Lisa Baumbach-Reardon, an Associate Professor of TGen’s Integrated Cancer Genomics Division and the study’s senior author.

This is a prime example of the type of “personalized medicine” TGen uses to zero in on diagnoses for patients, and to help their physicians find the best possible treatments.

“Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing,” said Dr. Baumbach-Reardon. “This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test.”

In one of the six cases, TGen researchers found a unique disease-causing variant, or mutation, in the CACNA1S gene for a child with severe muscle weakness in addition to ophthalmoplegia, or the inability to move his eyes. Properly functioning CACNA1S is essential for muscle movement. More specifically, CACNA1S senses electrical signals from the brain and enables muscles to contract.

“To our knowledge, this is the first reported case of severe congenital myopathy with ophthalmoplegia resulting from pathogenic variants in CACNA1S,” said Dr. Jesse Hunter, a TGen Senior Post-Doctoral Fellow, and the study’s lead author.

Learning the specific genetic cause of symptoms is a key step in finding new therapeutic drugs that could treat the patient’s disease.

In another closely related case, TGen’s genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy. When the brain sends an electrical signal, CACNA1S opens the RYR1 calcium channel flooding muscles with calcium and causing them to contract. When either partner of this duo doesn’t function correctly, devastating muscle weakness results.

Five of the six cases involved patients under the care of Dr. Saunder Bernes, a neurologist at Barrow Neurological Institute at Phoenix Children’s Hospital. Dr. Bernes referred all five cases to TGen for genetic sequencing in an effort to find the causes of the children’s muscle weakness.

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Likely genetic source of muscle weakness found in six previously undiagnosed children

TGen finds likely genetic source of muscle weakness in 6 previously undiagnosed children

Simple genetic test by TGen reveals likely causes of disease, after other extensive testing failed; 1 child’s case produces discovery

PHOENIX, Ariz. — April 9, 2015 — Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child’s rare type of severe muscle weakness.

The child was one of six cases in which TGen sequenced — or decoded — the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child’s symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine.

“In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing — often over many years — without a successful diagnosis, until they enrolled in our study,” said Dr. Lisa Baumbach-Reardon, an Associate Professor of TGen’s Integrated Cancer Genomics Division and the study’s senior author.

This is a prime example of the type of “personalized medicine” TGen uses to zero in on diagnoses for patients, and to help their physicians find the best possible treatments.

“Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing,” said Dr. Baumbach-Reardon. “This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test.”

In one of the six cases, TGen researchers found a unique disease-causing variant, or mutation, in the CACNA1S gene for a child with severe muscle weakness in addition to ophthalmoplegia, or the inability to move his eyes. Properly functioning CACNA1S is essential for muscle movement. More specifically, CACNA1S senses electrical signals from the brain and enables muscles to contract.

“To our knowledge, this is the first reported case of severe congenital myopathy with ophthalmoplegia resulting from pathogenic variants in CACNA1S,” said Dr. Jesse Hunter, a TGen Senior Post-Doctoral Fellow, and the study’s lead author.

Learning the specific genetic cause of symptoms is a key step in finding new therapeutic drugs that could treat the patient’s disease.

In another closely related case, TGen’s genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy. When the brain sends an electrical signal, CACNA1S opens the RYR1 calcium channel flooding muscles with calcium and causing them to contract. When either partner of this duo doesn’t function correctly, devastating muscle weakness results.

Originally posted here:

TGen finds likely genetic source of muscle weakness in 6 previously undiagnosed children

TGen scientists discover the likely cause of rare type of muscle weakness in six children

Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child’s rare type of severe muscle weakness.

The child was one of six cases in which TGen sequenced — or decoded — the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child’s symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine.

“In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing — often over many years — without a successful diagnosis, until they enrolled in our study,” said Dr. Lisa Baumbach-Reardon, an Associate Professor of TGen’s Integrated Cancer Genomics Division and the study’s senior author.

This is a prime example of the type of “personalized medicine” TGen uses to zero in on diagnoses for patients, and to help their physicians find the best possible treatments.

“Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing,” said Dr. Baumbach-Reardon. “This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test.”

In one of the six cases, TGen researchers found a unique disease-causing variant, or mutation, in the CACNA1S gene for a child with severe muscle weakness in addition to ophthalmoplegia, or the inability to move his eyes. Properly functioning CACNA1S is essential for muscle movement. More specifically, CACNA1S senses electrical signals from the brain and enables muscles to contract.

“To our knowledge, this is the first reported case of severe congenital myopathy with ophthalmoplegia resulting from pathogenic variants in CACNA1S,” said Dr. Jesse Hunter, a TGen Senior Post-Doctoral Fellow, and the study’s lead author.

Learning the specific genetic cause of symptoms is a key step in finding new therapeutic drugs that could treat the patient’s disease.

In another closely related case, TGen’s genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy. When the brain sends an electrical signal, CACNA1S opens the RYR1 calcium channel flooding muscles with calcium and causing them to contract. When either partner of this duo doesn’t function correctly, devastating muscle weakness results.

Five of the six cases involved patients under the care of Dr. Saunder Bernes, a neurologist at Barrow Neurological Institute at Phoenix Children’s Hospital. Dr. Bernes referred all five cases to TGen for genetic sequencing in an effort to find the causes of the children’s muscle weakness.

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TGen scientists discover the likely cause of rare type of muscle weakness in six children