Stories of Hope: Stories from Palestine integrates clinical research, genomic investigation, community engagement, and education to support Palestinian families affected by rare and undiagnosed conditions. Through this program, patients are connected to advanced genomic analysis, global expertise, and research pathways that aim to improve diagnostic outcomes and access to care.
Community‑focused research
The programme adopts a community-informed research approach, recognising that genetic conditions are shaped by social context, family structure, inheritance patterns, and healthcare access. Integrating these factors with genomic analysis helps ensure that research findings are clinically meaningful and relevant for patients, families, and healthcare providers.
Patient and family engagement
Patient engagement is a central component of the programme. Families are connected with international support networks, including the global community for Alström syndrome. In 2021, the programme presented the first clinical and genetic findings on Alström syndrome in Palestine at the Alström Global Meeting, contributing to international awareness and highlighting the need for improved diagnostic pathways. The programme is also developing a curated database of variants in the ALMS1 gene identified in Palestinian families to support local diagnostics and contribute to global knowledge.
Publications
- Fasham, J., Huebner, A.K., Liebmann, L., Khalaf-Nazzal, R., Maroofian, R., Kryeziu, N., Wortmann, S.B., Leslie, J.S., Ubeyratna, N., Mancini, G.M.S., van Slegtenhorst, M., Wilke, M., Haack, T.B., Shamseldin, H.E., Gleeson, J.G., Almuhaizea, M., Dweikat, I., Abu-Libdeh, B., Daana, M., Zaki, M.S., Wakeling, M.N., McGavin, L., Turnpenny, P.D., Alkuraya, F.S., Houlden, H., Schlattmann, P., Kaila, K., Crosby, A.H., Baple, E.L., Hübner, C.A., 2023. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain J. Neurol. 146, 4547–4561. https://doi.org/10.1093/brain/awad235
- Khalaf-Nazzal, R., Dweikat, I., Ubeyratna, N., Fasham, J., Alawneh, M., Leslie, J., Maree, M., Gunning, A., Zayed, D.Z., Voutsina, N., McGavin, L., Sawafta, R., Owens, M., Baker, W., Turnpenny, P., Al-Hijawi, F., Baple, E.L., Crosby, A.H., Rawlins, L.E., 2024. TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. J. Med. Genet. A. 194, e63579. https://doi.org/10.1002/ajmg.a.63579
- Khalaf-Nazzal, R., Fasham, J., Inskeep, K.A., Blizzard, L.E., Leslie, J.S., Wakeling, M.N., Ubeyratna, N., Mitani, T., Griffith, J.L., Baker, W., Al-Hijawi, F., Keough, K.C., Gezdirici, A., Pena, L., Spaeth, C.G., Turnpenny, P.D., Walsh, J.R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D.T., Pehlivan, D., Akdemir, Z.C., Posey, J.E., Lupski, J.R., Dobyns, W.B., Stottmann, R.W., Crosby, A.H., Baple, E.L., 2022. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am. J. Hum. Genet. 109, 2068–2079. https://doi.org/10.1016/j.ajhg.2022.09.012
- Khalaf-Nazzal, R., Fasham, J., Ubeyratna, N., Evans, D.J., Leslie, J.S., Warner, T.T., Al-Hijawi, F., Alshaer, S., Baker, W., Turnpenny, P.D., Baple, E.L., Crosby, A.H., 2021. Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia. Brain Sci. 11, 614. https://doi.org/10.3390/brainsci11050614
- Lin, S., Fasham, J., Al-Hijawi, F., Qutob, N., Gunning, A., Leslie, J.S., McGavin, L., Ubeyratna, N., Baker, W., Zeid, R., Turnpenny, P.D., Crosby, A.H., Baple, E.L., Khalaf-Nazzal, R., 2021. Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency. Eur. J. Hum. Genet. EJHG 29, 1570–1576. https://doi.org/10.1038/s41431-021-00887-w
