Research offers hope for patients affected by rare, hereditary metabolic disease

New research offers potential benefits for those affected by the hereditary metabolic disease methylmalonic aciduria. By combining the results of multiple molecular analyses, scientists can better diagnose this rare and…

Duke scientists join team involved in the first use of fetal therapy for Pompe disease

Experts at Duke Health were among a multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy – a first in the world. The…

COVID-19 pandemic increased deaths and disease caused by tuberculosis

Approximately 10 million people fall ill with tuberculosis (TB) each year. Even though TB is preventable and curable, over 1.5 million people die from it every year. The bacteria, Mycobacterium tuberculosis…

Rutgers physicians take newer approach in successfully treating a mysterious disease

The prognosis for the sick child, who hadn’t responded to standard treatment, was dire. But a team of Rutgers physicians believed there might be hope despite the conventional wisdom against…

Infancy acid suppression and antibiotic use are associated with celiac disease

Celiac disease (CD) is an immune-mediated enteropathy that arises due to permanent gluten sensitivity in genetically susceptible individuals. Between 1975 and 2000, CD prevalence increased fivefold in the United States. …

Researchers identify a previously unknown mitochondrial disease in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children’s Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported. Diseases that…

Routine newborn screening for sickle cell disease urgently needed to save lives in Africa

More than 300,000 babies globally are born every year with sickle cell, a hereditary condition which causes red blood cells to become sickle-shaped. These unusually shaped cells do not live…

Vitamin B2 pills in pregnancy may prevent neonatal metabolic disease

Neonatal MADD is characterized by lactic acidosis and hypoglycaemia that limits an infant’s ability to metabolise fat, carbohydrates, and proteins, and is passed on by mothers with riboflavin transporter deficiency…

What pelvic inflammatory disease feels like and signs you could have it

Why had I never heard of this ‘very common’ condition? (Credit: Getty Images) It was like my entire abdomen was on fire – not an ‘oh, that stings’ type of…

Air pollution exposure during infancy impacts a child’s gut bacteria, may increase disease risk

Exposure to air pollution in the first six months of life impacts a child’s inner world of gut bacteria, or microbiome, in ways that could increase risk of allergies, obesity…