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Cilia and the ciliopathies: An introductionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 29, 2009 Category: Genetics & Stem Cells Authors: Helga V. Toriello, Melissa A. Parisi Tags: Introduction Source Type: journals

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligandsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable. Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Victor L. Ruiz-Perez, Judith A. Goodship Tags: Articles Source Type: journals

Clinical and molecular features of Joubert syndrome and related disordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum o...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Melissa A. Parisi Tags: Articles Source Type: journals

The molecular basis of oral-facial-digital syndrome, type 1Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Oral-facial-digital syndrome type 1 (OFDI; OFD1; OMIM 311200) is a rare developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. OFD1 is characterized by malformation of the oral cavity, face, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This disorder is due to mutations in the OFD1 gene that encodes a centrosomal protein localized at the basal bodies at the origin of primary cilia. Characterization of in vitro and in vivo models demonstrated that, similarly to what described for other ciliary proteins, Ofd1 i...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Marina Macca, Brunella Franco Tags: Articles Source Type: journals

Disorders of left-right asymmetry: Heterotaxy and situs inversusEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cilia function is critical to the development of proper organ laterality. Primary ciliary dyskinesia (PCD) causes randomization of situs. Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal organs that results in congenital anomalies. Animal models and developmental biological approaches have defined pathways required during embryogenesis for proper left-right pattern formation. New candidates for genetic causes of human laterality disorders have emerged from recent studies on the assembly, transport, and signaling functions of cilia at the node as well as identification of cilia within ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Mardi J. Sutherland, Stephanie M. Ware Tags: Articles Source Type: journals

Liver and kidney disease in ciliopathiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the term "ciliopathies." While ADPKD and ARPKD are the most common ciliopathies associated with both liver and kidney disease, variable degrees of renal and/or hepatic involvement occur in many other ciliopathies, including Joubert, Bardet-Biedl, Meckel-Gruber, and oral-facial-digital syndr...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Meral Gunay-Aygun Tags: Articles Source Type: journals

Making sense of cilia in disease: The human ciliopathiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility: driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma, and oviducts. For over a century, non-motile cilia have been observed on the surface of most vertebrate cells but until recently their function has eluded us. Gathering evidence now points to critical roles for the mono-cilium in sensing the extracellular environment, and perturbation of ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Kate Baker, Philip L. Beales Tags: Articles Source Type: journals

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Motile cilia have long been known to play a role in processes such as cell locomotion and fluid movement whereas the functions of primary cilia have remained obscure until recent years. To date, ciliary dysfunction has been shown to be causally linked to a number of clinical manifestations that characterize the group of human disorders known as ciliopathies. This classification reflects a common or shared cellular basis and implies that it is possible to associate a series of different human conditions with ciliary dysfunction, which allows gaining insight into the cellular defect in disorders of unknown etiology solely ba...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Magdalena Cardenas-Rodriguez, Jose L. Badano Tags: Articles Source Type: journals

Quality in clinical geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article briefly reviews some of these challenges while introducing the articles in this issue of Seminars. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 20, 2009 Category: Genetics & Stem Cells Authors: Marc S. Williams Source Type: journals

Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics settingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Patient satisfaction is an important component of assessing quality of care. The purpose of this study is to develop a concise patient satisfaction tool specifically for use in the clinical genetics setting. An international survey identified two domains, "Respect Given" and "Patient Questions Answered" as being important components of satisfaction in the genetic encounter. A working group of professionals assembled a 14-question pilot questionnaire that was subsequently tested in 13 clinical sites. Nearly 400 responses were used to validate the tool and ultimately construct a 7-item questionnaire. The 7-item questionnaire...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Barbara Zellerino, Sharon A. Milligan, Ron Brooks, Debra L. Freedenberg, Dave S. Collingridge, Marc S. Williams Source Type: journals

Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics settingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objectives were to evaluate the pattern of referrals to the All Wales Medical Genetics Service (AWMGS) North Wales Genetics team based in three separate hospitals, define the capacity of the team and implement change to improve equity, timeliness and efficiency of care delivery to patients. The methodology required collating the monthly referral rates retrospectively for each center over a 2.5-year period and plotting on statistical process control charts. Process mapping of the referral process in each center was undertaken, differences documented and a common pathway implemented. "Did not attend" and "time to first a...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Emma McCann, Elizabeth A. Baines, Jonathon R. Gray, Annie M. Procter Source Type: journals

Evidence-based medicine and practice guidelines: Application to geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article reviews the challenges that are faced by geneticists who are charged with the development of practice guidelines. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Helga V. Toriello, Paula Goldenberg Source Type: journals

Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disabilityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article describes the current status of this effort. The methodology is based on our own modifications of the Institute of Healthcare Improvement "Breakthrough Series" and the Northern New England Cystic Fibrosis Consortium. Because of similarities across practices and the availability of existing published practice parameters, the clinical genetics evaluation of the child with developmental delay or intellectual disability was chosen as the topic to be studied. The aim was to improve the rate of etiological diagnosis of those with developmental delays referred to each genetics center by improving the processes of car...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: John B. Moeschler, R. Stephen Amato, Thomas Brewster, Leah Burke, Mary Beth Dinulos, Rosemarie Smith, Wendy Smith, Patrick Miller Source Type: journals

Health-related quality of life measures in genetic disorders: An outcome variable for consideration in clinical trialsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The field of medical genetics is rapidly advancing, and therapeutic options to treat genetic syndromes are becoming increasingly available. An understanding of the pathophysiology of various genetic disorders has provided researchers the opportunity to propose and test pharmacologic agents in preclinical murine models with hopes of translation to human trials. The development of clinical trials can be costly and time consuming, particularly for rare conditions. Pilot feasibility studies should be performed when designing clinical trials for genetic disorders. The development and selection of appropriate outcome measures ar...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: David A. Stevenson, John C. Carey Source Type: journals

Peering into the chasm: Improving the quality of clinical genetic servicesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Jonathon R. Gray, Donald M. Berwick Source Type: journals

Identification and prioritization of quality indicators in clinical genetics: An international surveyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The range and demand for clinical genetic services will continue to grow, and now is an ideal time to assess current service quality. Based on the previous work of quality professional organizations such as the Institute of Medicine (IOM) and The Joint Commission on the Accreditation of Healthcare Organizations (JCAHO) which is now known as The Joint Commission (TJC), an independent group of genetic and healthcare quality professionals (InheritQual) drafted and defined a list of potential quality indicators for clinical genetics. Perspectives on the appropriateness and the practicality of each indicator were surveyed and a...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Barbara C. Zellerino, Sharon A. Milligan, Jonathon R. Gray, Marc S. Williams, Ron Brooks Source Type: journals

Outcomes of genetics services: Creating an inclusive definition and outcomes menu for public health and clinical genetics servicesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article describes two assessment tools - "Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Kerry Silvey, Jacquie Stock, Lianne E. Hasegawa, Sylvia Mann Au Source Type: journals

Quality assurance in medical and public health genetics services: A systematic reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - July 19, 2009 Category: Genetics & Stem Cells Authors: Ann F. Chou, Ann I. Norris, Lori Williamson, Katrina Garcia, Justin Baysinger, John J. Mulvihill Source Type: journals

Health care supervision for twin pairsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Twins are at increased risk for congenital anomalies and have particular health care needs, but twin management guidelines do not exist. This review attempts to integrate the latest research findings and evidence-based medicine on twins into basic clinical recommendations for general pediatricians. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 24, 2009 Category: Genetics & Stem Cells Authors: Joy Samanich Tags: Articles Source Type: journals

Two miracles, one year laterEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 18, 2009 Category: Genetics & Stem Cells Authors: Robert Marion Source Type: journals

Clinical significance of chimerismEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Twins have been previously classified as either monozygotic or dizygotic. In recent years, fascinating, non-traditional mechanisms of twinning have been uncovered. We define chimerism versus mosaicism, touch on chimerism in the animal world, and explain timing of chimerism in humans. In addition, we discuss when to suspect chimerism in patients, and how to proceed with diagnostic evaluation and confirmation. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Dianne Abuelo Source Type: journals

MFM/geneticist view on prenatal management of twinsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Twin pregnancies are associated with an increase in both fetal and maternal morbidity and mortality. Health care supervision is complex, increasingly requiring care from maternal-fetal medicine specialists. This review discusses optimal twin prenatal management, which includes recognizing increased twin pregnancy risks specific to twin-types; counseling families regarding fetal complications, ranging from prematurity to cerebral palsy; screening for aneuploidy and open neural tube defects; specific twin guidelines for diagnostic testing, including chorionic villus sampling and amniocentesis; and monitoring for maternal com...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Barbara M. O'Brien Source Type: journals

Twinning on the brain: The effect on neurodevelopmental outcomesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Twinning is currently considered a complex multifactorial trait. Few studies have explored how the unique genetic and environmental influences that create twinning affect phenotypes and outcomes. Previous data has shown that twins account for a significant proportion of preterm and low-birth-weight infants, who are at risk for long-term neurodevelopmental disabilities such as cerebral palsy and cognitive impairment. More recently, it has been postulated that even without these co-morbidities, twinning in and of itself may incur a neurodevelopmental disadvantage even among term newborns. The purpose of this review is to rep...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Thuy Mai Luu, Betty Vohr Source Type: journals

Not really identical: Epigenetic differences in monozygotic twins and implications for twin studies in psychiatryEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Classical twin studies in the field of psychiatry generally fall into one of two categories: (1) those designed to identify environmental risk factors causing discordance in monozygotic (MZ) twins and (2) those geared towards identifying genetic risk factors. However, neither environment nor differences in DNA sequence can fully account for phenotypic discordance among MZ twins. The field of epigenetics - DNA modifications that can affect gene expression - offers new models to understand discordance in MZ twins. In the past, MZ twins were regarded as genetically-identical controls for differing environmental conditions. In...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: F. Nipa Haque, Irving I. Gottesman, Albert H.C. Wong Source Type: journals

Epidemic of plurality and contributions of assisted reproductive technology thereinEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A commentary on contributions of ART to the pandemic of multiple gestations is presented and mechanistic aspects therein are explored. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Monica Kapoor, Lubna Pal Source Type: journals

The genetics of twinning: From splitting eggs to breaking paradigmsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Over the last decades, there has been a twin boom in terms of live births. Meanwhile, new insights into the genetics of twinning have changed major paradigms. The first major paradigm is that monozygotic (MZ) twins are identical. The second is that twins are either MZ or dizygotic (DZ). The third is that MZ twins happen by chance alone. We have discovered striking epigenetic and other differences between seemingly alike individuals; the presence of fascinating intermediate twin forms; and the potential for familial MZ twinning and even a twinning gene. As this article discusses, the aforementioned paradigm shifts have infl...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 10, 2009 Category: Genetics & Stem Cells Authors: Natasha Shur Source Type: journals

Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: A reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Monozygotic twins (MZ) are rarely absolutely "identical." This review discusses the types of genetic/epigenetic and prenatal environmental post-zygotic mechanisms that cause discordance within such twin pairs. Some of these mechanisms - ranging from heterokaryotypia to skewed X-chromosome inactivation - may cause extreme discordance, but these extremes are merely the more emphatic examples of discordance that, to some degree, underlies the majority of MZ twin pairs. Because of the entrenched misconception that MZ twins are necessarily identical, many MZ twin pairs are mistakenly designated as dizygotic (DZ). Clinical benef...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 10, 2009 Category: Genetics & Stem Cells Authors: Geoffrey Machin Source Type: journals

Familial monozygotic twinning: A report of seven pedigreesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Seven families contained 19 MZ twin pairs (2.7 pairs/family), diagnosed by low-stringency variable number tandem repeats in DNA from placental tissue or blood. Chorion status was known in 10 pairs, 6 dichorionic, 4 monochorionic. Sex ratio was equal. Autosomal dominant inheritance is apparent. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 10, 2009 Category: Genetics & Stem Cells Authors: Geoffrey Machin Source Type: journals

Religious and spiritual issues in medical geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article provides an overview of a special issue on the religious and spiritual concerns that arise in the provision of genetic services. It introduces some of the challenges in defining religion and spirituality and provides contexts and summaries for the empirical and normative research that appears in the issue. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 25, 2009 Category: Genetics & Stem Cells Authors: Joseph B. Fanning, Ellen Wright Clayton Tags: Introduction Source Type: journals

Moving up the slippery slope: Mandated genetic screening on CyprusEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Many social scientists and bioethicists have argued that genetic screening is a new form of eugenics. Examination of the development of the quasi-mandated screening program for [beta]-thalassemia in the Republic of Cyprus (1970-1984) demonstrates that there is nothing eugenic about modern genetic screening practices. The Cypriot screening program involves mandated premarital carrier screening, voluntary prenatal diagnosis (originally through fetoscopy, now through CVS), and voluntary termination of afflicted pregnancies - all at public expense. In the Republic of Cyprus, the mandating agency for genetic screening is the es...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Ruth Schwartz Cowan Tags: Articles Source Type: journals

The patient as person in an increasingly gene-centric universe: How healthcare professionals should think about genomics and evolutionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In the past, the primary threat to the patient as person was a medical utilitarianism that would sacrifice the individual for the collective, that would coercively (ab)use a person for the sake of an in-group's health or happiness. Today, the threat is not only from vainglorious social groups but also from valorized genes and genomes. An over-valuation of genes risks making persons seem epiphenomenal. A central thesis of this article is that religious healthcare professionals have unique resources to combat this. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Timothy P. Jackson Tags: Articles Source Type: journals

Are enhancement technologies "unnatural"? Musings on recent Christian conversationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Although distinctions between therapy and enhancement are difficult to draw with precision, especially in marginal cases, recent Christian discussions of enhancement technologies accept the general plausibility of distinctions drawn between therapeutic interventions and enhancement technologies by appealing to general understandings of nature and human nature. However, such appeals continue to be plagued by conceptual imprecision on several matters, including the status of nature as a source of moral insight, the scope of human responsibility in light of God's purposes, and the effects of sin and finitude on human freedom....
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Andrew Lustig Tags: Articles Source Type: journals

Christianity, health, and geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Health is an intrinsic value that Christians should respect, but it is not the highest value. Christians should be willing to jeopardize their own health for the health of others, and should repudiate any idea that genetic problems are the result of sin. Rather, sin leads us to make genetic problems harder to live with than they should be. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: David H. Smith Tags: Articles Source Type: journals

Making sense of genetic uncertainty: The role of religion and spiritualityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article argues that to the extent that religious and spiritual beliefs can help people cope with genetic uncertainty, a limited spiritual assessment may be appropriate in genetic counseling. The article opens by establishing why genetic information is inherently uncertain and why this uncertainty can be medically, morally, and spiritually problematic. This is followed by a review of the range of factors that can contribute to risk assessments, including a few heuristics commonly used in responses to uncertainty. The next two sections summarize recent research on the diverse roles of religious and spiritual beliefs in ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Mary T. White Tags: Articles Source Type: journals

The personal is political, the professional is not: Conscientious objection to obtaining/providing/acting on genetic informationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conscientious objection (CO) to genetic testing raises serious questions about what it means to be a health-care professional (HCP). Most of the discussion about CO has focused on the logic of moral arguments for and against aspects of CO and has ignored the social context in which CO occurs. Invoking CO to deny services to patients violates both the professional's duty to respect the patient's autonomy and also the community standards that determine legitimate treatment options. The HCP exercising the right of CO may make it impossible for the patient to exercise constitutionally guaranteed rights to self-determination ar...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Joel Frader, Charles L. Bosk Tags: Articles Source Type: journals

Religious traditions and prenatal genetic counselingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Members of organized religious groups may look to their faith traditions for guidance regarding the moral implications of prenatal diagnosis and intervention. Many denominations have doctrinal statements relevant to these deliberations. In this article, common spiritual issues arising in the genetic counseling encounter are described. Representative doctrinal positions, derived from the responses of 31 U.S. religious denominations to a survey relating to prenatal genetic counseling, are given. Because the long-term adjustment of patients may be dependent in part on their ability to reconcile their actions with their faith ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Rebecca Rae Anderson Tags: Articles Source Type: journals

God and genes in the caring professions: Clinician and clergy perceptions of religion and geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study investigates clinicians' and clergy's perceptions of and experiences with religion and genetics in their clinical and pastoral interactions. This is an exploratory qualitative study designed to elicit care providers' descriptions of experiences with religion and genetics in clinical or pastoral interactions. Thirteen focus groups were conducted with members of the caring professions: physicians, nurses, and genetics counselors (clinicians), ministers and chaplains (clergy). Preliminary analysis of qualitative data is presented here. Preliminary analysis highlights four positions in professional perceptions of th...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Virginia L. Bartlett, Rolanda L. Johnson Tags: Articles Source Type: journals

The role and impact of personal faith and religion among genetic service providersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at re...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Gail Geller, Ellyn Micco, Rachel J. Silver, Ken Kolodner, Barbara A. Bernhardt Tags: Articles Source Type: journals

A religious framework as a lens for understanding the intersection of genetics, health, and diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The primary goal of this study was to determine the extent to which religious frameworks inform lay public understandings of genes and disease. Contrary to existing research, there were minimal differences between racial groups. We did, however, observe two patterns in that data that are worthy of discussion. First, because participants were from the south, the finding that participants from both racial groups ascribe to a religious belief system to make sense of their lived experiences is not surprising. Rather, it appears to be reflective of the religious culture that is an integral part of the south and our identity as ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Tina M. Harris, Bethany Keeley, Samantha Barrientos, Marita Gronnvoll, Jamie Landau, Christopher R. Groscurth, Lijiang Shen, Youyou Cheng, J. David Cisneros Tags: Articles Source Type: journals

Religiosity, spirituality, and psychological distress in African-Americans at risk for having a hereditary cancer predisposing gene mutationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objectives of our study were: (1) describe the prevalence of RS and depressive symptoms and (2) explore how RS relates to psychological distress in a cohort of individuals with a [ge]25% prior probability of a genetic predisposition to cancer. Participants (n = 99) were drawn from an African-American, Louisiana-based kindred with a mutation at the BRCA1 locus. This analysis reports findings from a survey assessing RS and the use of three types of religious coping styles: collaborative, self-directing, and deferring. Clinically significant depressive symptoms were relatively high (27%); with females (33%) more likely th...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Anita Y. Kinney, James E. Coxworth, Sara E. Simonson, Joseph B. Fanning Tags: Articles Source Type: journals

Religion, spirituality, and genetics: Mapping the terrain for research purposesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic diseases often raise issues of profound importance for human self-understanding, such as one's identity, the family or community to which one belongs, and one's future or destiny. These deeper questions have commonly been seen as the purview of religion and spirituality. This essay explores how religion and spirituality are understood in the current US context and defined in the scholarly literature over the past 100 years. It is argued that a pragmatic, functional approach to religion and spirituality is important to understanding how patients respond to genetic diagnoses and participate in genetic therapies. A pr...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 23, 2009 Category: Genetics & Stem Cells Authors: Larry R. Churchill Tags: Articles Source Type: journals

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4) chromosome mapping of the distinctive clinical signs, in an effort to identify pathogenic genes. Clinically, we consider that minimal diagnostic criteria for WHS, defining a "core" phenotype, are typical facial appearance, ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 17, 2008 Category: Genetics & Stem Cells Authors: Marcella Zollino, Marina Murdolo, Giuseppe Marangi, Vanna Pecile, Cinzia Galasso, Laura Mazzanti, Giovanni Neri Source Type: journals

Wolf-Hirschhorn syndrome and the 4p-related syndromesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Agatino Battaglia, John C. Carey Source Type: journals

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Within recent years, numerous individuals have been identified with terminal 4p microdeletions distal to the currently described critical regions for the Wolf-Hirschhorn syndrome (WHS). Some of these individuals do not display features consistent with WHS whereas others have a clinical phenotype with some overlap to the WHS phenotype. In this review we discuss the genetic and clinical presentation of these cases in an attempt to understand the consequence of monosomy of the genes distal to the proposed critical regions and identify the distal boundary for pathogenic genes involved in components of the WHS phenotype. © 200...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Sarah T. South, Femke Hannes, Gene S. Fisch, Joris Robert Vermeesch, Marcella Zollino Source Type: journals

A short history of the initial discovery of the Wolf-Hirschhorn syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Deletion of the short arm of chromosome 4 (4p-) was first described in 1961 [Hirschhorn and Cooper, 1961], and the second case of 4p- was published in 1965 [Hirschhorn et al., 1965]. This short history describes the original case and the sequence of events leading to the publications. © 2008 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Kurt Hirschhorn Source Type: journals

Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 casesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
As a subset of genetic abnormalities, subtelomeric deletions have been found in 7-10% of individuals with mental retardation (MR). One subtelomeric deletion, Wolf-Hirschhorn syndrome (WHS), causes mild to severe MR, but the cognitive-behavioral features of individuals with WHS have not been studied systematically. To that end, we administered a comprehensive cognitive-behavioral battery to 12 children with WHS, ages 4-17 years, who also had some expressive language. Using the Stanford-Binet (4th Edition), we found cognitive deficits ranged from mild to severe, with mean IQ = 44.1. Interviewing parents with the Vineland Ada...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Gene S. Fisch, Agatino Battaglia, Barbara Parrini, Janey Youngblom, Richard Simensen Source Type: journals

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervisionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Wolf-Hirschhorn syndrome (WHS) is a well-known multiple congenital anomalies/mental retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency is estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3), and is considered a contiguous gene syndrome. No single gene deletions or intragenic mutations have been shown to confer the full WHS phenotype. Since the disorder was brought to the attention of geneticists, many additional cases have been published. Only in 199...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Agatino Battaglia, Tiziana Filippi, John C. Carey Source Type: journals

Mouse models of Wolf-Hirschhorn syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Subtelomeric deletion syndromes represent a significant cause of mental retardation and craniofacial disease. However, for most of these syndromes the pathogenic genes have yet to be identified. Currently there is every indication that identification of these genes will be a slow process if we continue to rely strictly upon clinical data. An alternative approach is the use of mouse models to complement the patient studies. Wolf-Hirschhorn syndrome (WHS), caused by deletions in 4p16.3, is the first recognized subtelomeric deletion syndrome. As with other syndromes of this class, WHS has not yet been subjected to an intensiv...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 16, 2008 Category: Genetics & Stem Cells Authors: Ruth Simon, Andrew D. Bergemann Source Type: journals

Genetics of anxiety disorders: Complexities and opportunitiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 16, 2008 Category: Stem Cells Authors: Jordan W. Smoller, Stephen V. Faraone Source Type: journals

The genetic basis of panic and phobic anxiety disordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Panic disorder and phobic anxiety disorders are common disorders that are often chronic and disabling. Genetic epidemiologic studies have documented that these disorders are familial and moderately heritable. Linkage studies have implicated several chromosomal regions that may harbor susceptibility genes; however, candidate gene association studies have not established a role for any specific loci to date. Increasing evidence from family and genetic studies suggests that genes underlying these disorders overlap and transcend diagnostic boundaries. Heritable forms of anxious temperament, anxiety-related personality traits a...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 15, 2008 Category: Stem Cells Authors: Jordan W. Smoller, Erica Gardner-Schuster, Jennifer Covino Source Type: journals