Techniques for the Identification of Genes Involved in Psychiatric Disorders

2005 ◽  
Vol 39 (7) ◽  
pp. 542-549 ◽  
Author(s):  
Ian P. Blair ◽  
Philip B. Mitchell ◽  
Peter R. Schofield

Objective: Most psychiatric disorders are complex genetic traits involving both genetic and environmental risk factors. This paper aims to review the gene identification strategies being applied bymolecular geneticists in their efforts to elucidate the genetic and molecular basis of psychiatric disorders. Future strategies will also be canvassed. Method: The psychiatric genetic literature was reviewed to identify current strategies applied to gene identification, with examples provided where available. The future strategies and applications that will arise from genome projects, including the International Haplotype Mapping Project, are also discussed. Results: Many advances in the techniques of gene discovery, and the increasing resources available, are rapidly being adopted by researchers and applied to the complex problem of identifying susceptibility genes for mental illnesses. Perhaps the single most important advance to date is the Human Genome Project and all that has stemmed from the vast quantity of information that this endeavour has provided. With these technological advances and the massive increase of publicly available genetic resources, several genes have recently been implicated in the susceptibility to psychiatric illnesses including schizophrenia and depression. After many years of fruitless endeavours, these recent reports indicate that the labours of researchers in psychiatric genetics are beginning to show exciting results. Conclusions: Identification of these susceptibility genes holds great promise, with the unravelling of the molecular and biochemical basis of some conditions now being a more realistic and tangible goal. The increasing number of genes being identified augers well for the future treatment of psychiatric disorders. The genes identified, and the pathways of genes and proteins that they implicate, will provide potential novel targets for new therapeutic drugs. Psychiatric genetics appears to be poised for significant advances in our knowledge and understanding of the molecular genetic basis of mental illness.

CNS Spectrums ◽  
2002 ◽  
Vol 7 (3) ◽  
pp. 215-226 ◽  
Author(s):  
Alexander B. Niculescu ◽  
John R. Kelsoe

ABSTRACTPsychiatric genetics, while promising to unravel the mechanisms of psychiatric disorders, has proven to be a challenging field. Psychiatric disorders, like other common genetic traits, are complex and heterogeneous. Psychiatric genetics has also suffered from a lack of quantifiable, biology-based phenotypes. However, the field is currently at an opportune moment. The work of various investigators is on the verge of paying rich dividends. Efforts at positional cloning are being greatly accelerated by the fruits of the Human Genome Project. New tools of functional genomics, such as expression profiling and proteomics, are being applied to animal models. These two methods can complement each other in an approach we have termed convergent functional genomics. Lastly, improvements in the measurement of biologically distinct endophenotypes—or phenomics—will lead to a better understanding of the mapping of genes to phenotypes in both animal and human systems.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Muhammad Javed Iqbal ◽  
Zeeshan Javed ◽  
Haleema Sadia ◽  
Ijaz A. Qureshi ◽  
Asma Irshad ◽  
...  

AbstractArtificial intelligence (AI) is the use of mathematical algorithms to mimic human cognitive abilities and to address difficult healthcare challenges including complex biological abnormalities like cancer. The exponential growth of AI in the last decade is evidenced to be the potential platform for optimal decision-making by super-intelligence, where the human mind is limited to process huge data in a narrow time range. Cancer is a complex and multifaced disorder with thousands of genetic and epigenetic variations. AI-based algorithms hold great promise to pave the way to identify these genetic mutations and aberrant protein interactions at a very early stage. Modern biomedical research is also focused to bring AI technology to the clinics safely and ethically. AI-based assistance to pathologists and physicians could be the great leap forward towards prediction for disease risk, diagnosis, prognosis, and treatments. Clinical applications of AI and Machine Learning (ML) in cancer diagnosis and treatment are the future of medical guidance towards faster mapping of a new treatment for every individual. By using AI base system approach, researchers can collaborate in real-time and share knowledge digitally to potentially heal millions. In this review, we focused to present game-changing technology of the future in clinics, by connecting biology with Artificial Intelligence and explain how AI-based assistance help oncologist for precise treatment.


2019 ◽  
Vol 15 ◽  
pp. 01006
Author(s):  
K. Margaryan ◽  
E. Maul ◽  
Z. Muradyan ◽  
A. Hovhannisyan ◽  
G. Melyan ◽  
...  

Crop wild relatives provide a useful source of genetic variation and represent a large pool of genetic diversity for new allelic variation required in breeding programs. Armenia is an important center of origin both for cultivated Vitis vinifera ssp. sativa and wild Vitis vinifera ssp. sylvestris. Owing to recent prospection in Armenian woods and river floodplains many forms of wild grapevine were discovered and inventoried, which is an important prerequisite to unlock their breeding potential in the future. The fact that some genotypes of V. sylvestris can withstand the diseases is likely to be due to a more efficient basal immunity. The overall goal of the proposed research was to characterize the diversity of V. sylvestris from Armenia with respect to its capacity for stilbene biosynthesis, which might be exploited as genetic resource for resistance breeding. The realized research stimulates the recovery, characterization and preservation of wild grape germplasm, presently at risk of extinction. The recovery and characterization of wild genotypes will be the base of selection of genetic traits important in breeding programs for the generation of biotic and changing climate tolerant grapevine varieties and rootstocks, both necessary for the future of viticulture in Armenia and in Europe.


1993 ◽  
Vol 72 (2) ◽  
pp. 559-564 ◽  
Author(s):  
Robert A. Steer ◽  
Geetha Kumar ◽  
Aaron T. Beck

To study hopelessness in adolescent inpatients, we administered the Beck Hopelessness Scale to 108 inpatients between 12 and 17 years old who were diagnosed with mixed psychiatric disorders. Moderate to severe pessimism about the future was described by 42.6%. A principal components analysis of the correlations among the scale's 20 items was conducted, and three components reflecting rejection of the possibility of a hopeful future, acceptance of the inevitability of a hopeless future, and resignation to the futility of changing the future were identified. These dimensions were comparable to those previously reported for adults, and the usefulness of the scale for evaluating hopelessness in adolescent inpatients was discussed.


2020 ◽  
Vol 11 (3sup1) ◽  
pp. 137-145
Author(s):  
Petronela Nechita ◽  
◽  
Liliana Luca ◽  
Alina-Ioana Voinea ◽  
Codrina Moraru ◽  
...  

The involuntary commitment of psychiatric patients has been done for almost a decade under the Law 487/2002, the law of mental health and protection for people with psychiatric disorders. Frequent involuntary psychiatric hospitalizations have led to stigma attitudes and discriminatory acts towards patients with mental disorders. The coercive medical measures are applied in the psychiatric institutions of the mental health protection agencies. Coercion gives rise to serious ethical debates in the psychiatric assistance. The individual who was hospitalized in a psychiatric hospital anticipates social rejection becoming defensive, withdraws socially, experiences a complex internal conflict. The goal for this study is to illustrate aspects linked to coercive measures, mechanical restraint at involuntary admission of patients with mental illnesses in the psychiatric medical assistance. Material and method: This study is a retrospective one, and the data was taken from the charts with involuntary admissions during the period of October 2002 to July 2012. The studied lot was comprised of 202 patients admitted involuntarily in a psychiatric hospital according to the Law 487/2002, the law of mental health and protection for people with psychiatric disorders. Results: Of the 25.7% patients admitted involuntarily, that required coercive measures during admission, 58% were contained for symptoms like self-harm. The mechanical contention measures were especially necessary in the acute cases with symptoms as self-harm and/or harm of others, but also in situations with hallucinatory-delirium symptoms. The ratio of male sex subjects was significantly higher in the subject lot that needed coercive measures during hospitalization, of those admitted involuntarily (86.5% vs. 72%) (p = 0.036). Conclusions: Involuntary admission and mandatory treatment remains in psychiatry a medical, legal and ethical problem. The required measures can lead mainly to clinical benefits, implying a paternal attitude from the psychiatry specialists by defying the patients’ autonomy. Treatment compliance is directly proportional to the overall level of functioning and inversely proportional to the level of self-stigmatization.


Author(s):  
Tara Laughlin

Current systems of education, both K12 and postsecondary, are leaving learners unprepared for the future of work. Standardized, compliance-oriented approaches to teaching and learning are inequitable and are not responsive enough to meet individual learner needs. A learner-centered educational paradigm has emerged which seeks to disrupt traditional models of education by centering the individual needs of learners in all learning experiences. At the same time, the alternative educational model of micro-credentialing holds great promise to improve workforce readiness. While the fields of learner-centered education and micro-credentials are simultaneously gaining traction, their possible intersections have yet to be fully explored. Micro-credentials have the potential to ready learners for the future of work while providing a deeply relevant, learner-centered experience. This chapter lays out a vision for exactly what this might look like and why it matters for learners.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Maria Mercedes Pineyro ◽  
Patrica Agüero ◽  
Florencia Irazusta ◽  
Claudia Brun ◽  
Paula Duarte ◽  
...  

Abstract Background: Pituitary tumors (PT) can present with neuropsychiatric symptoms. It has been associated with hormonal changes, as well as extension of the tumor to the diencephalon. Psychopathology has been reported in up to 83% in Cushing Disease (CD) and 35% in acromegaly (ACR). Psychiatric disorders (depression, anxiety and psychosis) have been reported up to 77% in CD and 63% in ACR. We present a rare case of a patient presenting with acute psychosis and a PT apoplexy. Case: A 27 year-old Caucasian female with a PMH of primary hypothyroidism presented with a 15-day history of delusions. She had delusional ideas on the subject of harm and prejudice, persecutory and mystical-religious. The mechanism was mainly intuitive and interpretive with false acknowledgments. She also had sleep disturbance, death ideation and subacute alteration of consciousness. There was no history of substance abuse or psychiatric disorders. She did not report headaches, visual disturbances, symptoms of hormone hypersecretion or hypopituitarism. She had regular menses on BCP. She had no family history of mental illnesses. Physical exam revealed reluctance, latency in responses and bradypsychia. She did not have acromegalic or cushingoid features. She was diagnosed with acute psychosis with atypical features so a brain CT was performed, which showed a sellar mass. Pituitary MRI revealed a sellar mass measuring 15x12x13 mm, with suprasellar extension, optic chiasm compression, hyperintense on T1- and hypointense on T2-weighted imaging compatible with subacute hemorrhage. She was treated with neuroleptics and benzodiazepines. Lab work revealed high prolactin (PRL) (114ng/dl), and normal 8 AM cortisol, FT4, LH, FSH and IGF-1 levels. Repeated PRL was 31,6 ng/dl after changing psychiatric treatment to aripiprazole. Her psychiatric symptoms improved. We postulate a diagnosis of PT apoplexy that presented with acute psychosis. In relation to the nature of the PT we postulate a non functioning pituitary adenoma (NFA) or a partial resolution of a prolactinoma after apoplexy. A follow up MRI is pending. Discussion: Infrequently, psychiatric symptoms may be the primary manifestation of brain tumors. Patients with PT have been reported to have altered quality of life, reduced coping strategies, increased prevalence of psychopathological alterations and maladaptive personality disorders. In addition, they can present with psychotic symptoms, mostly reported with hormone excess (GH and cortisol). Psychiatric symptoms such as anxiety and neurosis have been reported in NFA and prolactinomas. However, it is not clear a higher prevalence of psychiatric illnesses in these tumors. To our knowledge this is the first case of a pituitary tumor apoplexy presenting with acute psychosis. Conclusion: Psychiatric symptoms can be the first manifestation of PT, so atypical presentations should warrant further workup with brain imaging.


2001 ◽  
Vol 7 (5) ◽  
pp. 343-349 ◽  
Author(s):  
Dinesh Bhugra ◽  
Oyedeji Ayonrinde

The association of life events with the onset of various psychiatric disorders is well-known. The body of evidence has highlighted the impact of negative or positive life events on the genesis of common mental disorders, especially depression. These findings have been replicated across different cultures, although the impact of different life events varies between cultures. In addition, the roles of chronic difficulties (defined in Life events and psychiatric disorders, below) and resulting ongoing chronic stress have been shown to contribute to vulnerability to certain mental illnesses. However, data on the impact of life events, especially those perceived as racial, on members of minority ethnic groups are rather sparse. The questions that need to be addressed concern the perception of life events as racial, the role of pervasive and perceived institutional and individual racism, and chronic difficulties.


2020 ◽  
Vol 9 (8) ◽  
pp. 2375 ◽  
Author(s):  
Napoleon Waszkiewicz

Psychiatric disorders, also called mental illnesses or mental disorders, constitute a wide group of disorders including major depression disorder (MDD), bipolar disorder (BD), schizophrenia (SCZ) and other psychoses, anxiety disorders (ANX), substance-related disorders (SRD), dementia, developmental disorders e [...]


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