Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.

Black Ghosts of the Diasporic Memory in Jesmyn Ward’s Sing, Unburied, Sing

This article reads Jesmyn Ward’s Sing, Unburied, Sing (2017) as a novel that follows an African American family facing the ghosts of their past and present to resurrect buried stories that are unrelentingly interlocked with the legacy of slavery and the draconian racist practices of Jim Crow. I posit that the novel participates in the re-examination of the trope of the ghost as a healing asset that needs to be accommodated within the retrieval of memory work. Thus, the enactment of this African diasporic memory facilitates the encounter with their ghosts so that the family can start their healing processes and be provided with the tools and examples of how to keep on coming to terms together with and against the legacy of slavery and the present racist practices.

Technology Is out There for the Betterment of Us: African American Family Caregivers and COVID-19

Unpaid family caregivers are mostly responsible for bearing the costs associated with caring for older adults with dementia. Importantly, the ongoing COVID-19 pandemic has created unforeseen challenges for many family caregivers. Specifically, the restrictions put in place to limit the spread of the coronavirus may be exacerbating the challenges faced by these caregivers as they try to navigate the system. Further, studies have shown that family caregivers who are members of a racial or ethnic minority group such as African-Americans or Hispanics face unique challenges when caring for their loved ones. Additional challenges may include socioeconomic disadvantages, health disparities, and language barriers that make it more difficult to access healthcare and social services. In this study, we examined the perspectives of African-American family caregivers of older adults on the feasibility of utilizing technology as a coping strategy (including for research participation) during the ongoing COVID-19 pandemic. The research question was: What are the perspectives of African-American family caregivers of people with dementia on the feasibility, opportunities, and challenges of technology as a means to engage family caregivers during a pandemic? In-depth one-on-one interviews were conducted with 12 African-American/black family caregivers. Thematic analysis of the qualitative data yielded the following three themes: (1) Acceptance that technology will play a greater role in the world going forward, and family caregivers need to adapt; (2) Opportunities to avoid social isolation while maintaining links with critical community resources; and (3) Challenges due to possible loss of privacy and lack of physical interactions

Reduced care burden and improved quality of life in African American family caregivers: Positive impact of personalized assistive technology

BACKGROUND: African Americans living with dementia are considered less likely to seek formal institutionalized elder care and more likely to be managed in the home by family-member caregivers. Assistive technologies (the use of smart visual devices like tablets and phones) can be used effectively to guide memory-impaired individuals with a sequence of pictures showing steps to complete activities of daily living, e.g., bathing, toileting, dressing. Assistive technology so far has not been generally embraced in African American communities. OBJECTIVES: Determine, if African American family caregivers, given the opportunity, would embrace the use of assistive technology and if they would perceive its use beneficial. METHODS: We assessed a group of eight family caregivers’ overall care-burden scores, and their user-satisfaction scores after using assistive technology for three months. RESULTS: We found significant reduction in caregiver burden, positive changes in behavior and emotion scores, and high ratings on user satisfaction. CONCLUSIONS: The findings reported here comprise the first systematic study of the use of assistive technology by caregivers in an underserved population. They set the stage for exploring meaningful strategies and variables that will better engage underserved populations to take advantage of assistive technologies available in healthcare.

Abstract P588: A Rare RNF213 Variant is Associated With Moyamoya Disease in an African American Family

Objective: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. Methods: A young girl with MMD (proband), her father and paternal half-brother underwent cerebrovascular imaging with MRI and MRA. Cerebral angiography was also performed on the girl and her father. Genetic analysis of the MMD susceptibility gene RNF213 was conducted on all three relatives, while ACTA2 gene was analysed in the proband only. Results: The proband presented with pseudobulbar affect and chorea, then subsequently had a right hemispheric ischaemic stroke and rapid, ultimately fatal clinical decline. Detailed family history raised suspicion for familial MMD and investigation of her relatives. Her father had a small haemorrhagic thalamic stroke without residual neurologic deficits; a clinically silent ischaemic infarct was incidentally discovered on neuroimaging. He remains clinically stable despite slowly progressive disease on imaging. Her brother is neurologically intact and has normal cerebrovascular imaging to date. They are all heterozygous for the rare Arg4131Cys variant in RNF213. They are the first Black people and only the 3rd, 4th and 5th people in the world known to harbour this variant. MMD was confirmed in the girl and her father with cerebral angiogram. Conclusions: This study illuminates the clinical and genetic complexity of familial MMD. It underscores the importance of genetic testing and surveillance cerebrovascular imaging even in asymptomatic relatives of probands with MMD. Although the clinical significance of Arg4131Cys remains unclear, modest variant-disease segregation in this family is consistent with a growing body of evidence supporting its probable pathogenicity. Furthermore, our study illustrates its wide phenotypic spectrum, from asymptomatic carrier to late presenting, mild disease to fulminant, rapidly fatal childhood disease. To our knowledge, this is also the first report of heritable MMD in a Black family. We demonstrate the value of considering diseases more predominant in one specific ancestry when evaluating patients from other ethnic backgrounds. Finally, we highlight the importance of racially and ethnically diverse participants in biomedical research.

Biblical Echoes and Communal Home in Jesmyn Ward's Salvage the Bones

Jesmyn Ward’s second novel, Salvage the Bones (2011), offers a literary account of an African American family in dire poverty struggling to weather the horrors of Hurricane Katrina on the outskirts of Bois Sauvage, Mississippi. This article focuses on the novel’s ‘ideology of form’, which is premised on biblical models of narration —grounded on a literary transposition of The Book of Deuteronomy— that serves to portray the victimization of African Americans in mythical tones to evoke the country’s failed covenant between God and his chosen people. It also brings into focus the affective bonds of unity and communal healing relying on the idiosyncratic tenet of home understood as national space— following Winthrop’s foundational ideology. As I will argue, the novel contends that the revamped concept of communal home and familial bonds —echoing Winthrop’s emblem of national belonging— recasts the trope of biblical refuge as a potential tenet to foster selfassertion and to rethink the limits of belonging and acceptance.