Andrea William's son Jonathan was just 10 days old when the doctors delivered the news that would change his life, and hers.
Jonathan, they told her, had sickle cell disease, an inherited red blood cell disorder that can cause extreme pain and other serious complications. But along with the diagnosis, they gave her some hope: a cure could come in his lifetime, they said.
Thirteen years after Jonathan's birth, there is no widely effective cure.
Bone marrow transplants have cured some, but it's a small minority. For most, there is just one FDA-approved treatment, a drug called hydroxyurea. Yet Ms. Williams, who founded and is the director of the Mount Washington-based Children's Sickle Cell Foundation, is still hopeful.
A new commitment by UPMC to sickle cell research and treatment, she said, "looks very promising."
Last week, UPMC announced that it recruited three national leaders in the disease, part of a push to achieve advances in a disease that affects about 100,000 Americans.
"It is pretty unprecedented to have this many people focused on sickle cell come together in one place, so it is very exciting," said Mark Gladwin, director of the University of Pittsburgh's Heart, Lung, Blood and Vascular Medicine Institute.
The three new researchers -- Solomon Ofori-Acquah from Emory University in Atlanta and Gregory Kato from the National Heart, Lung and Blood Institute at the National Institutes of Health are both already here, and Laura DeCastro will come to Pittsburgh from Duke University in January -- will help UPMC in "creating a critical mass" to make progress in the disease, Dr. Gladwin said.
The new hires, together with existing researchers and doctors at UPMC, represent an "impressive scope of experience," Dr. Kato said, that extends "from bench to bedside."
"This is a real moment of renaissance for sickle cell research, and it's an opportunity for UPMC to try to take the lead in national sickle cell research," he said.
The announcement about the new hires comes about a year after UPMC partnered with the Ryan Clark Cure League. The organization, founded by the Steelers safety who carries the sickle cell trait himself and whose sister-in-law died from complications caused by the disease, seeks to raise awareness of the disorder and to raise money for research and clinical care.
Sickle cell disease causes normally round red blood cells to become hard, sticky and sickle-shaped, which can block the flow of blood throughout the body, causing pain and various severe complications. For people with the disease, the median age of death is 42 for men and 48 for women.
It is most common among people with ancestors from sub-Saharan Africa, Spanish-speaking regions in the Western Hemisphere, Saudi Arabia, India and Mediterranean countries. One out of every 500 African-Americans carry the trait, and in the Pittsburgh region, about 300 families are affected by the disease, said Ms. Williams.
Mr. Ofori-Acquah, originally from Ghana, where the disease is far more prevalent than in the United States, will develop partnerships between UPMC and research sites in Africa. That will increase the number of patients enrolled in clinical trials, which can speed up the development of potential treatments. Much of Mr. Ofori-Acquah's research is focused on acute chest syndrome, a complication of sickle cell disease, with the goal of developing a treatment to manage the lung ailment.
Dr. Kato, who previously worked with Dr. Gladwin at NIH, has focused his research on identifying biomarkers that can help doctors detect what complications sickle cell carriers are likely to develop, which can allow for more personalized medical care, and in Pittsburgh, he is now director of the UPMC Sickle Cell Disease Research Center of Excellence.
Dr. DeCastro, according to the UPMC news release, has focused her research on developing treatments for sickle cell disease and exploring its impact on end-organ damage. She's also developed and coordinated clinical care for adult sickle cell patients, and at UPMC will help direct the adult sickle cell clinical programs.
With the new hires, added to UPMC's existing programs, "we're going to be able to do bigger things," Dr. Gladwin said.
As for Ms. Williams, her son's sickle cell disease meant frequent hospitalizations when he was younger. Now, she said, he is taking hydroxyurea, and he is "living well with sickle cell." She said she thinks UPMC's increased focus on sickle cell will mean "we're going to see great things happen."
"As a parent, it means the world to me to have a number of researchers working on this," she said.
Kaitlynn Riely: firstname.lastname@example.org or 412-263-1707.