内容摘要：In this image provided by Salvamont Maramures, a Romanian mountain rescue service, Peach the cat sits in a carrier at the Animal Med vet clinic after being rescued along with its owner, 28 year-old Vladislav Duda from Ukraine, three days ago from a deep mountain ravine in Baia Mare, Romania, Monday, Dec. 9, 2024. (Salvamont Maramures via AP)

In this image provided by Salvamont Maramures, a Romanian mountain rescue service, Peach the cat sits in a carrier at the Animal Med vet clinic after being rescued along with its owner, 28 year-old Vladislav Duda from Ukraine, three days ago from a deep mountain ravine in Baia Mare, Romania, Monday, Dec. 9, 2024. (Salvamont Maramures via AP)

, most of them caused by a misstep hidden within their genes. Some conditions can be caught early and treated—but in parts of Africa where population data and resources are scarce, many people go undiagnosed. Rodriguez is trying to change that by connecting patients with genetic testing and medical support, while gathering key data from those patients and their families.“Most rare disease data has been collected from people of European ancestry, so we have very little knowledge about what’s happening in other parts of the world, mainly in Africa,” Rodriguez said.

Ndeye Lam looks at photos of her deceased daughter Mariama who died at age 13 of a rare genetic disease, in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)Ndeye Lam looks at photos of her deceased daughter Mariama who died at age 13 of a rare genetic disease, in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)His research is funded by organizations including the La Caixa Foundation in Spain and the National Ataxia Foundation in the United States. And he has consulted with scientists in China, France, Boston, and elsewhere around the world, documenting rare diseases and novel disease-causing gene variants.

That research is creating a library of genetic data for scientists and clinicians. Patients in Senegal are benefiting, too, with a path to diagnosis.Fatoumata Sané holds her daughter Aissata, 8, who suffers from a rare genetic disease, at their home in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

Fatoumata Sané holds her daughter Aissata, 8, who suffers from a rare genetic disease, at their home in Dakar, Senegal, Saturday, Jan. 11, 2025. (AP Photo/Annika Hammerschlag)

In Guediawaye, Fatoumata Binta Sané’s daughter Aissata has glutaric acidemia type I, an inherited disorder in which the body can’t process certain proteins properly. Her arms and legs are tightly drawn up toward her chest. She can’t walk or reach for things, speak, sit on her own or hold her head up. Sané cradles Aissata in her arms constantly, and the 8-year-old smiles at the sound of her mother’s voice.The Associated Press examined draft and final budget proposals and spoke to more than a dozen current and former federal employees to determine the scope of the cuts to programs tracking basic facts about Americans’ health.

Among those terminated at the Centers for Disease Control and Prevention were experts tracking abortions, pregnancies, job-related injuries, lead poisonings, sexual violence and youth smoking, the AP found.“If you don’t have staff, the program is gone,” said Patrick Breysse, who used to oversee the CDC’s environmental health programs.

Federal officials have not given a public accounting of specific surveillance programs that are being eliminated.Instead, a U.S. Department of Health and Human Services spokeswoman pointed the AP to a Trump administration budget proposal released Friday. It lacked specifics, but proposes to cut the CDC’s core budget by more than half and vows to focus CDC surveillance only on emerging and infectious diseases.