Doctor Profile: Inga Hofmann-Zhang, M.D.

 

Inga Hofmann-Zhang, MD, PhD, is a real threat against children’s cancer. She is a hematologist, oncologist and researcher working at Boston Children’s Hospital, the Dana-Farber Cancer Institute, and Harvard Medical School.

One of her biggest achievements is the development of a national multi-center patient registry for childhood Myelodysplastic Syndrome (MDS) and Bone Marrow Failure Disorders (BMF). She has also worked as part of a team to isolate the first gene related to these rare disorders and hopes to find more with her continuing research.

We had the opportunity to sit down and talk with Dr. Hofmann-Zhang about her work, she gives us a fascinating look at rare childhood diseases .

Tell us a little bit about what you do?

My niche is in pediatric oncology, specifically BMF. BMF is a pre-leukemic condition that can lead into leukemia and is often very difficult to treat. The only curative treatment is a transplant. I’m the local expert for this disease group and for MDS another rare bone disorder.

What percentage of your patients have a genetic component to their disease?

It’s probably very large, although the exact percentage is unknown. For years I have been thinking that most of our pediatric patients that get MDS probably have a genetic component, an inherited predisposition that puts them at risk for getting these disorders. Only one gene has been found over the last couple of years that show there is a familial connection. My research focuses actively on finding other genes that might fall into this category and help us treat these disorders.

What I’m doing now is using the registry for MDS and BMF to collect clinical data and research samples. Genetic discovery is one main focus, can we find other genes that explain why patients get this in the first place?

We had an index family that was very puzzling to our staff, they were siblings and through analysis we found a number of candidate genes. We analyzed the whole registry of 225 patients and found about 15% of the patients have the same genetic mutation.   That knowledge is quite important. It can have an impact on care for the patient and their families. If one individual has the gene we might consider evaluating the rest of the family, as well.

Any new discoveries with bone marrow transplants?

Bone marrow transplants have come a long way in terms of the type of conditions we transplant as well as our outcomes. It’s a very harsh and toxic treatment with a lot of potential side effects and definitely a chance of dying from the actual procedure.

We have gotten a lot better at making transplants more effective and to decrease toxicities and side effects for many conditions. As for conditions we treat, traditionally it was done for malignant conditions, relapsed leukemia or sometimes for solid tumors. Now there are conditions we’ve started to do transplants for that aren’t malignant such as adrenoleukodystrophy and immunodeficiency syndromes.

How is your success rate?

It’s hard to put a number to it, with MDS the overall cure rate is 50 percent, plus or minus but it depends on the stage and grade of the disease. A lot of our patients we catch early and with bone marrow transplants they have a very high rate of cure rate as high as 80 percent to 90 percent.

Do you ever have problems finding donors?

For almost everyone we find some source of stem cells. There’s up to 15 million people in the registries now that we can draw from. For almost all patients we find a donor, it’s not always a perfect one but an acceptable one in most patients. An alternative source could be umbilical cord blood. Some people have a hard time if they have an HLA type that is very rare.

As an M.D. or D.O. we welcome comments below or inside Sermo as part of a community discussion. Have you ever worked with a rare disease specialist on a patient case?

If you’d like to learn more about Dr. Hofmann-Zhang you can view a video of her here.