Mother and son

Professor Ingrid Scheffer and her son Eddie Cliff are passionate about encouraging other clinicians to engage in research to enrich their own lives as well as those of their patients …

INGRID Scheffer is a proud mother and she has two good reasons to be.

Her youngest son, Tristan, is at the start of his academic life, studying first-year science at the University of Melbourne. Her eldest, Edward, is a final-year medical student at Monash University, and he has just completed his Bachelor of Medical Science (Hons) after a year at Oxford University in the UK.

Professor Ingrid Scheffer, AO, of course, is quite a role model for her sons.

She is a paediatric neurologist, specialising in the diagnosis and treatment of epilepsy. She is a professor at the University of Melbourne, and the Florey Institute of Neuroscience and Mental Health. She is also a founding fellow of the Australian Academy of Health and Medical Sciences and is currently its vice-president.

Professor Scheffer, and her close collaborator Professor Sam Berkovic, AC, won the 2014 Prime Minister’s Prize for Science for their work on deciphering the genetics of epilepsy. It is one of many awards in Professor Scheffer’s trophy cabinet and her resume includes numerous appearances in the media.

One of the most notable was her part in a documentary called Jabbed: Love, Fear and Vaccines — available from SBS On Demand — in which she relates her role in the clearing of the whooping cough vaccine as a cause of epileptic seizures.

“The vaccine story came about through our work on the very severe epilepsies of infancy and childhood,” Professor Scheffer tells the MJA.

“Probably the best known of those is called Dravet syndrome – and I run a Dravet clinic. Through our studies of Dravet syndrome, Sam Berkovic and I made the observation that there were very similar patients who had what was called ‘vaccine encephalopathy’.

“That is where it was thought that if you had a vaccine — usually the whooping cough, or pertussis, vaccination — that was thought to cause this very nasty brain disease where you start developing severe seizures and development fell off and you might regress and end with intellectual disability.

“This was a well-accepted entity, this so-called vaccine encephalopathy, and the vaccine companies in the UK had made large payouts because of what the vaccine had allegedly done to these babies’ brains.

“We recognised that some of these older patients with this vaccine encephalopathy actually looked like Dravet syndrome, so we tested them for the gene that’s commonly associated with Dravet syndrome. More than 80% of patients with Dravet syndrome have got a mutation of a gene called SCM1A that encodes a sodium channel, or a little sodium gateway into the cell.

“We looked at these patients with vaccine encephalopathy where their seizures had started within 48 hours of vaccination and we found that, yes, they had the gene mutation.

“This told us that they were destined to have Dravet syndrome and the vaccine at the very most triggered the first seizure. If they hadn’t had the vaccine at that time, the next illness or fever would have triggered the same scenario.”

It’s a neat example of how Professor Scheffer’s work as a clinician meshed with her role as a research scientist. That double-barreled career path is one she, and her son, want to encourage other medical students and clinicians to pursue.

“For me it was a case of growing up around Mum and seeing that she had such an exciting life,” Eddie Cliff tells the MJA.

“Certainly as a kid I got to see all the exciting bits and didn’t really realise how hard she worked until more recently. I’ve also been lucky in that when I was coming up through high school and university has been when Mum’s career has really taken off.

“To see that has been really exciting for me and to see the mixture of the clinical side of things … with the challenging research stuff … from all of that I’ve learned from watching, seeing just how hard she works, but also how rewarding a lot of it is.”

The role of a clinician-scientist is one both mother and son are passionate about, and with good reason.

“I think there’s a huge difference between being a straight clinician and a clinician-scientist,” Professor Scheffer says.

“It’s because you think very differently, and you take your thinking to another level. One of the beauties about clinical research … is that my patients teach me every day. They come along and they do something differently, and I go, ‘wow, that’s important — I wonder what that’s telling me’.

“And then I’m very privileged because I work with a huge group of fabulous scientists, really world-leading scientists … and we just throw these new observations around and ask how can we interrogate this further? How can we ask a question that will drill down on the biology? And then hopefully [that will] lead to a change in understanding that might lead to a new therapy that will help us with our patients.

“That element of translation is really exciting.”

Eddie’s research interest to date has been focused on diabetes, although he is quick to point out that he is “still a baby”.

One of the bonuses of being his mother’s son is that he has met some leading lights in medical science at an early stage in his career. One of those was Professor Dame Frances Ashcroft, whom he met while at an international conference in Paris with Professor Scheffer in 2012, and who went on to be his supervisor during his year at Oxford.

“[At the conference] she talked about … a very rare form of diabetes that has a genetic cause and only occurs in the neonate,” he says.

“It’s different to both type 1 and type 2 diabetes … [in which] you’re not sensitive to changes in your blood sugar. So your blood sugar goes up and you don’t release any insulin. You can still produce insulin, unlike someone with type 1 diabetes — in this case you can produce insulin but you don’t do it because the pathway’s not activated.

“So by studying this cohort of patients, scientists have not only been able to change the therapy for this group of patients … but there were lots of overlaps and interesting things that we can learn from studying this small population that come back to type 1 and type 2 diabetes.

“For me it was really cool to see the other end of that experience in the lab.”

Although he’s not sure diabetes will be his focus for the rest of his working life, there is one thing he knows for sure.

“What appeals to me is that mixture of working with patients every day, making their lives better on an immediate basis, but also having those moments of going ‘maybe this is this’ or asking those questions.

“I had enough of a taste of that last year to confirm that that’s something I definitely want to do.”

Professor Scheffer pointed out that teamwork is crucial to successful research in this day and age.

“A lot of clinical researchers don’t realise that you have to be a clinician first in order to be a clinician researcher and we bring different skills to the table,” she says.

“The other really critical issue is teamwork — you have to work in teams these days to make big dents into science. That makes it fun but it also means you have to find the right people to collaborate with.

“I have collaborators all over the world and that makes it very enriching.”

Last month, through the Australian Academy of Health and Medical Sciences, Eddie and Professor Scheffer organized and co-chaired a Victorian Clinical Science Symposium called “Life as a clinician scientist: The best of both worlds” at the Melbourne Convention and Exhibition Centre, with the intent of introducing medical students and young doctors to the possibilities of incorporating research into their clinical lives.

Luminaries such as Professor Ian Frazer, Associate Professor Kate Drummond, Professor Euan Wallace and others conducted sessions discussing the benefits of the dual role as well as the skills needed to be a successful clinician-scientist.

“The symposium was a fantastic success — the speakers were great, we had around 300 attendees from various career stages and the enthusiasm in the room was palpable,” Eddie says.

“The feedback from the event has been great too; many people said it has made them consider a career as a clinician-scientist seriously for the first time or that it has convinced them that it’s a path they are keen to take.”