Q&A with Dr. Tamim H. Shaikh

Tamim H. Shaikh, PhD

Tamim H. Shaikh, PhD

In recognition of April as Autism Awareness Month, the Global Down Syndrome Foundation held a Q&A with Dr. Tamim H. Shaikh, Associate Professor of Pediatrics at the University of Colorado Anschutz Medical Campus. Dr. Shaikh has received one of the inaugural Crnic Grand Challenge Grants to study the genetic modifiers of autism spectrum disorders in patients with Down syndrome.

1. What is the correlation between Down syndrome and autism?

A majority of individuals with Down syndrome have mild to moderate cognitive impairment or intellectual disability. But a significant number of children with Down syndrome have a more severe form of cognitive impairment with behavioral and developmental issues that are diagnosed as autism spectrum disorders (ASD). The incidence of ASD in individuals with Down syndrome is estimated to be as high as 10 percent, which is substantially higher than the general population.

2. Please describe the nature of your research.

We are interested in discovering the genetic factors which increase the risk of ASD in Down syndrome. We know that all individuals with DS have an extra copy of chromosome 21. But, the question that remains is whether there are additional genetic differences that are found only in individuals who have both Down syndrome and ASD and not in individuals with Down syndrome who do not have ASD. In order to accomplish this, we will analyze the genomes of children with only Down syndrome and those with Down syndrome and ASD using cutting-edge genome analysis tools.

3. How could your research end up benefiting people with Down syndrome?

Some phenotypes are consistently present in all individuals with Down syndrome, while some like ASD are not always present in all individuals with Down syndrome. If we are able to identify genetic factors that are unique to the individuals that have Down syndrome and ASD, this may help us develop therapeutic interventions to help alleviate social and behavioral impairments associated with ASD in individuals with Down syndrome.

4. How could your research end up benefiting people with autism?

It is possible that genetic factors that influence the risk of ASD in individuals with Down syndrome may be the same or similar to the genetic factors that influence the risk of ASD in the general population. Thus, the genetic factors identified in our study can be quickly tested in a larger population of individuals with ASD. Furthermore, our findings may also shed light on the types of genes and gene families that are important for proper brain development, providing potential candidate genes that can be tested in individuals with autism in the general population.

5. How important is the Crnic Supergroup in helping your research and promoting collaboration?

The Crnic Supergroup was a great idea! Its formation has been instrumental in promoting collaboration and exchange of ideas among a diverse group of researchers with different expertise. This has led to some very interesting discussions and innovative solutions toward improving the outcomes of individual research projects. My own research has benefited immensely by my interactions with members of the Supergroup. The different perspectives and expertise of Supergroup members have made me aware of new ways to think about my research and have often brought my attention to better methodologies and approaches that has improved the efficiency of my work. I think that many of the ideas and innovations resulting from our discussions have the potential to help the larger research community, whether they are studying Down syndrome or other conditions.

6. How important is the Crnic Institute funding for advancing research on the CU campus?

The Linda Crnic Institute has become an extremely important source of funding for research on the CU campus. This funding has succeeded in attracting a group of highly motivated and innovative scientists on the CU campus to explore how they can apply their expertise and experience to the of study Down syndrome. The seed funds provided by the Crnic Institute grants are critical to the development of research projects studying various aspects of Down syndrome, which remains one of the most underfunded areas of research. These pilot projects are important in generating preliminary data, which in the near future will allow researchers at CU to attract funding from the National Institutes of Health and other funding agencies.

7. Please tell us a little about yourself.

I grew up in Mumbai, India, where I received my undergraduate degree from Mumbai (Bombay) University, before coming to the U.S. for graduate studies. I got my doctoral degree in Molecular Genetics at the Louisiana State University Medical Center in New Orleans, and did my postdoctoral training in Human Genetics at the Children’s Hospital of Philadelphia (CHOP). Before coming to University of Colorado, I was an Assistant Professor at the University of Pennsylvania School of Medicine and CHOP. I am currently an Associate Professor in the Department of Pediatrics at the Anschutz Medical Campus of the University of Colorado. I have been studying the genetic basis of multiple birth defects for almost 20 years. One of my major research interests is studying conditions associated with chromosomal imbalances in which there is either loss (deletion), gain (duplication) or rearrangement (translocation, inversion) of genetic material. Most often, children with these types of genomic rearrangements will have multiple symptoms with intellectual disability, developmental delay, autism spectrum disorders and other behavioral symptoms being the most common findings along with many other highly variable phenotypes. We are interested in determining the genetic factors that contribute to the variability in symptoms observed in individuals with the same apparent genetic/genomic defect.

8. Is there anything else you’d like to add?

Down syndrome has many similarities to the conditions I study, as it is also characterized by having some consistent phenotypes but also many variable ones. Thanks to the funding from the Linda Crnic Institute, I am able to bring my expertise in studying genomic variation to the question of why many individuals with Down syndrome are at a higher risk of having autism spectrum disorders. This work would not have been possible without the support of the Crnic Institute.

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