clinical staff – and Dr Vandana Shashi,
principal investigator for the UDN site.
Shashi, 60, speaks with a calm and
benevolent authority. She has worked at
Duke for around ten years. “I’m a clinical
geneticist and a paediatrician, so I
have seen patients who were difficult
to diagnose my entire life,” she says.
In 2011, Shashi found herself
discussing the difficulty of diagnosing
genetic diseases with a colleague, Dr
David Goldstein. At the time, just 50 per
cent of patients received a diagnosis.
The two doctors started working with
new gene-sequencing technology, and
in 2012 published work demonstrating
its efficacy in reaching a diagnosis.
Two years later, Shashi heard that
the National Institutes of Health – a
research centre affiliated with the US
Department of Health – was looking to
expand a small programme aimed at
helping the most difficult to diagnose
patients, and settting up research
centres at clinical sites across the
country. Shashi immediately applied,
and Duke was accepted in 2014, in what
was the first iteration of the UDN.
The Duke site took on its first patients
in 2015. To date, it has accepted 199
applicants and made 79 diagnoses.
As of 2019, the UDN as a whole has
received 3,601 patient applications, 1,372
of which it has been able to accept. It
has reached a diagnosis in 323 cases.
“The mission of the UDN was and
is to provide diagnostic services to
patients who have had difficulty getting
a diagnosis, and also to be able to have
the patients participate in research
activities,” Shashi explains.
In the US, a rare disease is defined
as something that affects fewer than
200,000 people, and an ultra-rare
disease as affecting fewer than
50,000. They are hard to diagnose
simply because so few patients are
available to study, and are often misdi-Below: A photograph of Hogan Teem as his parents remember him, before the unforeseable tragedy that ended the 17-year-old’s life‘TO
ALL
INTENTS
AND
PURPOSES
HOGAN
WAS
A FIT
17-YEAR-OLD ‘IN JULY, THE TREE-LINED AVENUES
of Duke University are a furnace of
mid-summer heat. It is part of the famed
“Research Triangle”, linking Duke with
North Carolina State University and the
University of North Carolina at Chapel
Hill. Duke, based in Durham, boasts a
formidable campus, with more than 100
buildings, 1,600 medical students, 2,40012511-19-FTUndiagnosedDiseases.indd 135 28/08/2019 03:59