Baby With Rare Disease Gets Personalized Gene Therapy
NIH NEWS IN HEALTH
NIH News in Health · Source article
Health Capsule
Scientists have found ways to fix faulty genes for some common genetic disorders. These include sickle cell disease, various blood disorders, and a severe skin condition. But treating rarer genetic conditions has been more challenging. A new NIH-funded study used a personalized gene-editing approach in a baby born with a rare, often deadly disorder.
The baby had a disease called CPS1 deficiency. People with this disease don’t have the enzyme that removes harmful ammonia from the body. About half of babies with CPS1 deficiency die as infants. The research team had spent years creating personalized therapies for people with similar disorders. So they were ready when the newborn showed symptoms of CPS1 deficiency.
The team quickly crafted an experimental gene therapy. The baby received two treatments around the time he was six months old. A few weeks later, he needed less medication to keep ammonia levels in check. And his diet could include more protein. Protein intake can lead to ammonia buildup in kids with untreated CPS1 deficiency.
No serious side effects were seen. But follow-up will be needed to be sure the therapy remains safe and effective. With further study, this type of personalized gene therapy could help to treat a variety of disorders.
“Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible,” says Dr. Rebecca Ahrens-Nicklas of the Children’s Hospital of Philadelphia, who helped lead this study.
Further reading and research references
- Carbamoyl Phosphate Synthetase 1 Deficiency Disease
- About Inborn Errors of Metabolism
- What Is Genome Editing?
- Patient-specific in vivo gene editing to treat a rare genetic disease.
Illustrative archival photograph: National Cancer Institute / Unsplash, used under the Unsplash License. The people or equipment shown are not identified as participants in the research or interviews described here.
Medicines
View more
NIH News in Health · Source article Health Capsule Some medications affect your brain and nervous system. Side effects can include an increased risk of confusion, falls, and hospitalization. This risk is higher for people with dementia—a brain disorder that causes memory loss and difficulty thinking clearly. A new study showed that many people with dementia are taking medicines that may not be safe for them. Researchers studied medical records of about 4,800 people aged 65 and older. They looked at how many people took at least one medicine that can affect the brain and nervous system for at least 28 days. The medicines included certain drugs that treat depression, anxiety or panic attacks, and sleeping problems. They also looked at some drugs that cause drowsiness. The researchers wanted to understand who was taking these drugs and why. In people with dementia, 25% took at least one of these medicines. Only 17% of people without dementia took one of these medications. The findings show that many older adults may be taking medications that might not be safe for them. Many did not have a medical reason to use them. Lowering the use of these medications could lead to better, safer care. But prescriptions that affect the brain and nervous system may sometimes be needed. “It is important for older patients and their caregivers to work closely with their physicians to ensure that these medications are appropriate to their cases,” says Dr. Annie Yang of Yale University. Source: NIH News in Health. Originally published April 2026. Republished by Graymedy on 11 October 2026. This is a sourced NIH article, not a Graymedy interview or original study. Read the original article and its research references. NIH News in Health permits republication of its articles and illustrations with acknowledgement. Research findings retain their original study context. Further reading and research references Dealing With Dementia: When Thinking and Behavior Decline What Is Dementia? Symptoms, Types, and Diagnosis Dementias Alzheimer’s Disease & Related Dementias Forgetfulness: Knowing When to Ask for Help Understanding Alzheimer's Disease NIH's Alzheimer's Disease Research Centers Prescribing patterns of potentially inappropriate CNS-active medications in older adults Illustrative archival photograph: National Cancer Institute / Unsplash, used under the Unsplash License. The people or equipment shown are not identified as participants in the research or interviews described here.
Fewer Newborns Receiving Protective Vitamin Shot
Coping With Chemo
Probing Aspirin’s Benefits
NIH News in Health · Source article Health Capsule Scientists have found ways to fix faulty genes for some common genetic disorders. These include sickle cell disease, various blood disorders, and a severe skin condition. But treating rarer genetic conditions has been more challenging. A new NIH-funded study used a personalized gene-editing approach in a baby born with a rare, often deadly disorder. The baby had a disease called CPS1 deficiency. People with this disease don’t have the enzyme that removes harmful ammonia from the body. About half of babies with CPS1 deficiency die as infants. The research team had spent years creating personalized therapies for people with similar disorders. So they were ready when the newborn showed symptoms of CPS1 deficiency. The team quickly crafted an experimental gene therapy. The baby received two treatments around the time he was six months old. A few weeks later, he needed less medication to keep ammonia levels in check. And his diet could include more protein. Protein intake can lead to ammonia buildup in kids with untreated CPS1 deficiency. No serious side effects were seen. But follow-up will be needed to be sure the therapy remains safe and effective. With further study, this type of personalized gene therapy could help to treat a variety of disorders. “Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible,” says Dr. Rebecca Ahrens-Nicklas of the Children’s Hospital of Philadelphia, who helped lead this study. Source: NIH News in Health. Originally published July 2025. Republished by Graymedy on 11 October 2026. This is a sourced NIH article, not a Graymedy interview or original study. Read the original article and its research references. NIH News in Health permits republication of its articles and illustrations with acknowledgement. Research findings retain their original study context. Further reading and research references Carbamoyl Phosphate Synthetase 1 Deficiency Disease About Inborn Errors of Metabolism What Is Genome Editing? Patient-specific in vivo gene editing to treat a rare genetic disease. Illustrative archival photograph: National Cancer Institute / Unsplash, used under the Unsplash License. The people or equipment shown are not identified as participants in the research or interviews described here.
Treatment May Help Youth Quit Vaping
