A pill to prevent Alzheimer’s disease might someday be a reality
Articles / Genetics / Alzheimer's disease

A pill to prevent Alzheimer’s disease might someday be a reality

Taking a pill that prevents the accumulation of toxic molecules in the brain might someday help prevent or delay Alzheimer’s disease, according to scientists at Baylor College of Medicine, Texas Children’s Hospital and Johns Hopkins University School of Medicine. The scientists took a three-pronged approach to help subdue early events that occur in the brain long before … Continue reading

Improving the view on the genetic causes of retinitis pigmentosa
Articles / Genetics / Retinitis pigmentosa

Improving the view on the genetic causes of retinitis pigmentosa

Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects nearly 1 in 4,000 people. More than 1 million are visually impaired around the world due to this untreatable disease. A number of … Continue reading

“Freeze-frame” synthetic proteins capture DNA events leading to cancer
Articles / Cancer / Genetics

“Freeze-frame” synthetic proteins capture DNA events leading to cancer

Cancer scientists have focused on identifying signature genetic changes present in cancerous cells and understanding how these changes lead to cancer. Although this approach has delivered important advances, at Baylor College of Medicine Dr. Susan Rosenberg and colleagues wanted to get closer look at how these changes happen. “In my lab we study how the … Continue reading

How breast cancer can become resistant to hormone therapy
Articles / Breast cancer resistance

How breast cancer can become resistant to hormone therapy

Despite the overall success of hormone therapy, breast cancer tumors in patients with metastatic disease often fail to respond. One new mechanism that can explain resistance to hormone therapy in breast cancer involves two significant changes in the cells – overexpression of the FOXA1 gene and increased production of IL-8. A cluster of breast cancer … Continue reading

Image of the Month: Neuron-muscle synapses in the fruit fly
Articles / Genetics / Neuroscience

Image of the Month: Neuron-muscle synapses in the fruit fly

Certain human gene variants of ATAD3A can cause rare neurological syndromes characterized by global developmental delay, low muscular tone and visual, neurological and heart problems. The association between gene variants of ATAD3A and the neurological conditons was established using a combination of patients’ whole-exome sequencing studies led by Dr. Tamar Harel and Dr. James R. Lupski, … Continue reading

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs
Articles / Human genetics

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs

Scientists have linked gene PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic causes of this condition and opens the possibility for families carrying the disease genes to have children unaffected by the disease via prenatal or pre-implantation … Continue reading

Mouse Gata2 gene can affect female fertility and uterine susceptibility to cancer
Articles / Fertility / Genetics

Mouse Gata2 gene can affect female fertility and uterine susceptibility to cancer

Determining the cause of infertility can be a complex matter. Infertility may be the result of a problem in one or several of the multiple steps involved in the process that leads to pregnancy. In the United States, according to the Centers for Disease Control and Prevention, as many as 7.5 million women 15 to … Continue reading