It’s a boy! Now where’s that genetic testing kit? 

In a big step forward for early diagnostic use, US company Sema4 has begun offering a newborn genetic screening kit that analyses 166 genes for 193 disorders and 38 common pediatric diseases. Sema4 is a “health information company founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease.” To coincide with Rare Disease Day (28 February, 2018) we […]

Could Crohn’s disease treatment become more precise?

Crohn’s disease is an inflammatory condition that affects the gastrointestinal tract and can cause symptoms including abdominal pain, diarrhoea, bleeding, joint pain, mouth sores, fatigue and weight loss. The cause is unknown but bacteria and the immune system are implicated and there is often a family connection. Factors such as genetics, stress, viruses or smoking are also linked. The disease is more prevalent […]