What bearing have you set you set your sights on? How do you navigate the ever-changing swells and winds of our professional landscape? Are you feeling a nebulous desire for change, that your career is not going in the direction you were expecting, worry about lack of future opportunities, or even a deep dissatisfaction in your current position? You are not alone. The formation of the Committee on Advanced Training for Certified Genetic Counselors (CATCGC) was partly in response to such sentiments, expressed within a vibrant dialogue amongst members of the genetic counseling community. The CATCGC sought to understand how genetic counselors chart courses for their careers by conducting a Decision Points exercise during a pre-conference symposium (PCS) at the 2014 NSGC Annual Education Conference. Participants were asked to identify a decision point at which they were most satisfied with their careers and one at which they were least satisfied and to describe the situation, their personal goals and intentions, any actions they took, and the outcomes. Qualitative analysis in the constructivist tradition was conducted on participants' responses and facilitators' notes from the PCS to explore what personal meanings were made of the decision points; twelve themes related to Career High Points, Low Points, and how genetic counselors made career transitions were identified. Using a constructivist framework, themes are presented in the context of the authors' personal experiences, and the authors' share their reflections on these data. We wrote this article to offer you a window into your peers' experiences - the good, the bad, and the ugly - hoping to encourage and challenge you to reflect deeply, no matter where you are on your career journey.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s10897-016-9936-y | DOI Listing |
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFMol Cell Probes
January 2025
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Osteopetrosis is a group of genetically and clinically diverse inherited disorders characterized by an increase in bone density. The main known cause is an abnormality in the development or function of osteoclasts. Hence, the process of bone resorption is impaired, resulting in: 1- a reduction in bone marrow volume and, subsequently, a decrement in the hematopoietic capacity of bone marrow, which leads to anemia and compromised immunological function; 2- improper bone development, which leads to pressure on peripheral nerves, causing auditory, visual, and movement impairments; and 3- disturbance in the formation of bone microstructure that leads to susceptibility to bone fracture.
View Article and Find Full Text PDFClin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!