Working life: Dr Tomás Carroll, scientist

7am: Our two-year-old is better than any alarm and after breakfast and some PAW Patrol, I head for the crèche and then to work in the Royal College of Surgeons in Ireland, (RCSI) Smurfit building at Beaumont Hospital.

We work on Alpha-1 antitrypsin deficiency, a genetic condition which can lead to lung, liver or skin problems.

We need Alpha-1 antitrypsin to protect our lungs and people born without this vital protein commonly present with emphysema or chronic obstructive pulmonary disease.

9am

My first tasks are to collect blood samples from reception and check emails. We analyse 200 samples a month from hospitals all over the country.

This year to date we’ve diagnosed 40 severe cases of Alpha-1 and 220 mild cases.

We run the only national screening programme for Alpha-1 in the world and are funded by the HSE.

Diagnosis is by a simple blood test and can mean early medical intervention or lifestyle changes, such as quitting smoking, which is devastating to those with Alpha-1.

10am

We have a team meeting to discuss test results, clinic appointments, feedback from our recent annual conference, and the redevelopment of our registry.

11am

I head to the lab to isolate DNA from blood samples which have shown unusual results. This could mean a new mutation so the DNA is sent to a lab in Italy for further analysis. We have already discovered two new mutations in Ireland.

12 noon

We have a research meeting with scientists from the department of medicine in RCSI. Research to improve the treatment of Alpha-1 is a big part of what we do.

1pm

Lunch with colleagues.

2pm

On Wednesday afternoons we have a weekly Alpha-1 clinic attended by 20 patients for medical assessment, follow-up care and genetic counselling.

These are people who have been diagnosed in our screening programme. We receive blood samples during clinic from family members attending with their affected relative.

Alpha-1 often affects several members of the same family. Occasionally, I visit other hospitals such as Cork University Hospital to raise awareness of Alpha-1 or I present to local COPD patient supports groups.

6pm

Home and a chance to play with our wee boy who will soon have a new sibling.

* Dr Tomás Carroll, chief scientist, Alpha-1 Foundation. For more information see www.alpha1.ie or ring 01-8093871