Publications by authors named "Donald W Hadley"

Article Synopsis
  • Genomic testing is becoming more complex, especially with polygenic risk factors, making it harder for families and health care providers to understand and communicate information about genetic risks, particularly for conditions like Parkinson's disease.
  • This study focuses on a multi-generational family with specific genetic variants linked to Parkinson's, examining their experiences and challenges in dealing with the risks associated with these variants.
  • The findings highlight issues related to risk perception, the recall of genetic information, and family communication, pointing to the need for more research to better support families and genetic counselors facing similar challenges.
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Genetic risk is particularly salient for families and testing for genetic conditions is necessarily a family-level process. Thus, risk for genetic disease represents a collective stressor shared by family members. According to communal coping theory, families may adapt to such risk vis-a-vis interpersonal exchange of support resources.

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Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don't participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset.

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Background: Li-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous association with pancreatic neuroendocrine tumors (PNETs). Here we present the first case of PNET associated with Li-Fraumeni syndrome.

Case Presentation: This is a 43-year-old female who underwent laparoscopic distal pancreatectomy at age 39 for a well-differentiated grade 2 cystic PNET.

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Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages.

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To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) as a 5-year initiative, from 2016 to 2020. In its first 3 years, 71 professionals from 34 countries received training.

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The provision of information and support to families experiencing holoprosencephaly (HPE) in a loved one is unequivocally challenging, even for the most experienced clinicians. It deserves the balance of pertinent information coupled with medical guidance that forms the basis for shared decision-making; all of which is ideally contained within a supportive environment. It requires a willingness to carefully listen to the specific concerns of the parents and family allowing them to revisit challenging issues as much as needed to encourage existing road blocks to be resolved.

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Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.

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Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

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Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluate families with inherited HPE.

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PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older.

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Introduction: The advances in genomic technology of large populations make the potential for genomic screening of military cohorts and recruits feasible, affording the potential to identify at-risk individuals before occurrence of potentially life-threatening events. Exploring sudden cardiac death, known to cause significant morbidity and mortality in young military service members, we focused on the most common gene associated with long QT syndrome (LQTS), KCNQ1.

Materials And Methods: Using the publicly available database Exome Aggregation Consortium as a surrogate for a military population, variants in KCNQ1 were filtered on the basis of population prevalence, classification as a disease mutation in the Human Gene Mutation database, and classification as pathogenic or likely pathogenic in the ClinVar database.

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Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.

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Objective: To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls.

Study Design: Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. Participants completed validated assessments of executive functioning (Behavior Rating Inventory of Executive Function [BRIEF]) and adaptive behavior skills (Adaptive Behavior Assessment System, Second Edition [ABAS-II]).

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Background: VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies.

Methods: We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis.

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Objective: Genetic testing for hereditary cancer susceptibility syndromes is a family-centered process. Nonetheless, little research has explored how the family context affects psychological responses to genetic testing. We examine how personal test results and the test results of immediate and extended family members shape responses to genetic testing.

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Background: Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly.

Objective: To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-of-function mutations.

Methods: Through the National Institutes of Health and collaborating centres, ∼400 individuals with HPE spectrum disorders, endocrine disorders or craniofacial anomalies were screened for GLI2 mutations.

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Background: Congenital heart disease (CHD) is estimated to affect between 3 and 5% of all newborns. Extra-cardiac malformations are observed in 7 to 50% of patients with CHD. One relatively well-known association that can occur in the context of CHD is VACTERL.

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This study explored the role of religious (RWB) and existential well-being (EWB) on psychosocial factors, support network characteristics, and screening practices in families with Lynch syndrome, also referred to as hereditary nonpolyposis colon cancer (HNPCC). Participants were individuals with Lynch syndrome associated cancers and their first-degree relatives at risk of inheriting an identified deleterious mutation. Analyses considered both family RWB and EWB norms and individual deviations from that norm.

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Background: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences.

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Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context.

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Holoprosencephaly (HPE) is the most common disorder of the developing forebrain in humans, and is characterized by failed or incomplete cleavage of the cerebral hemispheres and deep brain structures. HPE includes wide phenotypic variability, with a continuum of both brain and craniofacial anomalies. While "classic" eye findings, including the spectrum of midline anomalies ranging from cyclopia to hypotelorism, as well as chorioretinal coloboma and microphthalmia, have been frequently described in patients with HPE, other subtle eye anomalies may also occur.

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