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Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

  • A project led by Dr. Pedro Rodriguez connects patients in Africa with genetic testing and medical support for rare diseases, as many suffer undiagnosed.
  • In Senegal, routine newborn screening is not practiced, which leads to untreated conditions like glutaric acidemia type I, as noted by local families.
  • Rodriguez's study has enrolled almost 1,300 participants to help combat rare diseases in West Africa, with plans for ongoing genetic testing.
  • Efforts to enhance genetic testing and collect data are crucial for rare disease research, policy, and drug development, emphasized by Lauren Moore.
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Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

DAKAR, Senegal (AP) — Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. “Mariama will always be here,” she said, stepping away from the grave and onto a path that winds through rows of monuments outlined with white tile, stone and sand. At home, Lam and her husband Pathé smiled over an old video clip of their daughter beaming as she celebrated her 13th birthday with cake and …

·Albuquerque, United States
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El Universal Chile broke the news in on Saturday, April 26, 2025.
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