Alabama is working to be among the leaders in diagnosing rare diseases and Dr. David Bick of

HudsonAlpha’s Institute for Biotechnology is part of the strategy.

Bick, a clinical geneticist and a faculty investigator at HudsonAlpha, sees rare disease patients

at the Smith Family Clinic for Genomic Medicine located on the institute’s Huntsville campus.

Because of his expertise in genomic medicine and more than 20 years of clinical experience

Bick was recently appointed by Gov. Kay Ivey to the newly created Alabama Rare Disease

Council, established by the Alabama Legislature.

“There are a lot of people in Alabama with rare diseases and our purpose is to help our state’s

leaders address those needs,” Bick says of the 10-member council. “We want to improve the

healthcare of the citizens of our state and our leaders want to get expert advice in thinking

about it.”

He describes it as a diverse council with everyone from healthcare providers to researchers.

“There’s a lot of representation on the council that bring a variety of voices together in a room

if you will. The council is charged with trying to improve our understanding of how to

diagnose and make an impact on these on families dealing with rare diseases.

“If we can collect information on impact and cost and coordinate and collaborate among

different groups as a way to better inform lawmakers about what’s going on we can help

citizens to improve their care and overall health,” he added.

He says the council was established to be a voice for individuals with rare conditions, and

similar council’s are being set up around the country.

It’s also about realization of what genetics testing can provide.

“Being a geneticist, we see people with neurologic or immunologic conditions that while they

may be rare conditions, there are quite a bit (of people) out there with it. There’s a lot of

work being done in Alabama for medicine in general but one thing we tried to emphasize is

rare disease is not so rare,” he says.

For example, he says, Cystic fibrosis affects one in 2,500.

“That doesn’t sound like a very big number but we have all heard of it,” he says. “Take that

across the whole state and it all adds up.”

Another example, he says, is Spinal Muscular Atrophy, a condition that involves spinal cord

cells dying, usually in children but has been seen in adults at about one in 10,000.

“When you add up the numbers, it adds up to big numbers,” Bick says. “If one in 10 Americans

have a rare diseases, that’s about 400,000 in Alabama.”

Patients often arrive a Bick’s office after seeing multiple doctors or specialists who have gone

as far as they can with traditional testing models.

“A neurologist can say to a person who is having trouble walking that their condition has

something with the nerves in the legs,” Bick says. “It may be a peripheral neuropathy and

simple testing shows that but it may be that one of these rare conditions in which the nerves

are not working properly so we do DNA testing and look at the genes to determine the cause.”

For some, there is treatment. For other conditions, there is no treatment but there may be

clinical or pharmaceutical trials in which the patient might be interested in participating in or

following updates.

 Bick says when there are things that are not known from the testing, at least once it is known

what the condition is, the tests show if other family members are at risk for the condition and

if the condition will progress and if so, how it will progress.

 “People want to know what will happen to them, for example, if it’s nerves in the legs, could it

also impact other parts of the body? Sometimes it is yes, there are things we have to watch

out for or it may be simply the current symptoms are the only thing they will experience.

Bick says there is “tons” of research going on around rare genetic conditions for people who

have known conditions.

“We study them because we know how to develop a treatment but if we do not know what a

person has, how can we develop new treatments.”

Genetic testing is for those who have little or no family medical history. It’s also for those who

can’t get a diagnosis no matter how many tests or doctors they see.

The first step for genetic testing is to call to the clinic or get a doctor referral. A patient will

talk with a genetics counselor and if records are available from other doctors that have been

seen, they will be reviewed and costs will be discussed.

“After genome testing has been completed, if we can identify a genetic issue we will open up

lines of communication with the physician about the condition and see if we can further

identify the problem. Meanwhile, the doctor can tailor the patient’s care,” Bick says.

He says that of the 20,000 genes in the human genome, about 4,000 to 5,000 of them have

been connected to specific conditions. The remainder can be identified as doing its job or it’s

never been connected to a medical problem. Although there are hundreds of new conditions

figured out each year.

 “It gets us to lots of conditions already known and lots of others are being discovered,” Bick

says. “Once we’ve sequenced all the genes of a patient, we can go back every year or couple

of years to see if something new has turned up that would show a connection between a

specific gene and genetic condition.”