Front Line Genomics has recently interviewed Dr. Michelle Krishnan, who is the Translational Medicine Leader in Rare Diseases at Roche. She focuses on rare neurodevelopmental disorders, in which she works with new therapies. In fact, she advances these therapies from early research into their clinical trials. In this interview, she is asked about her work, the challenges she faces, her motivations, her hopes, and the Festival of Genomics. She also mentions rapid and exciting developments in treatments for spinal muscular atrophy (SMA).
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a rare genetic disorder that results in muscle weakness and degeneration. There are multiple forms of SMA, which depend on severity and age of onset. It affects about one of every 10,000 people.
SMA is caused by a mutation on the SMN1 gene, which results in a loss of motor neurons. This loss then leads to the deterioration and atrophy of the muscles used for walking, crawling, sitting up, moving the head, breathing, and swallowing.
The form of SMA one has impacts the symptoms that they present. Not all forms have all of these symptoms, but they include developmental delay, breathing issues, swallowing issues, problems with standing and walking independently, an inability to climb stairs, tremors, and twitching.
A neurological exam and genetic testing are typically used to diagnose SMA. If these two tests do not result in a confirmed diagnosis, other tests include a creatine phosphate kinase blood test, a muscle biopsy, and a nerve conduction.
There is no cure for SMA, but there are options for treatment. Treatment may consist of a tracheostomy, a noninvasive respiratory support, gastrostomy, physical therapy, bracing, and surgery. The FDA has also approved Spinraza, which is the first therapy for SMA, and more recently Zolgensma, a gene therapy.
Dr. Michelle Krishnan’s Interview
Dr. Krishnan first speaks of her work at Roche, as she works with new therapies from the early research stage into the clinical trial stage. Specifically, she focuses on neurodevelopmental disorders and pediatrics. She mentions how important working in ground-breaking science is, as it allows her to make a difference in the world of people with these disorders.
She was also asked about the challenges that she faces in her work, to which she responds that the complexity of certain diseases is not yet fully understood. Models used in the development of therapies can be simplified, which may result in the failure of the therapy as a whole. She also mentions that comprehending why certain efforts failed is very important.
In terms of her motivations, Dr. Krishnan spoke of her love for children, which drew her to medicine, as it provided her with an opportunity to help them. She also feels that she is better able to help people through her work in clinical trials; she tackles the “biological root cause.”
The interview then turned towards the world of genomics. When asked about why the demand for genetic data has increased, Krishnan said that it is linked to the developments of new diagnostic and therapeutic techniques that rely on genetic data. Not only can this data help with new techniques, but it can also help to reduce the cost of some of these new developments.
Continuing with the topic of genomics, Krishnan was also asked what excited her the most in this field. She responded that RNA therapies and targeted genetic therapies are improving the lives of many, especially those with spinal muscular atrophy. She continued on to say that the number of therapies available in the next twelve months should grow, some of which will address diseases that were once considered too complicated. In the next five years she hopes to see a different approach to rare diseases, in the sense that medical professionals will stop hoping for one simple cure.
They wrapped up the interview with a question about the Festival of Genomics, in which Dr. Krishnan will be speaking. She states that it is a great opportunity for people within the medical field to come together and discuss some of the most important aspects of their work. She will talk about the work she does at Roche, specifically touching on how their innovations are being applied to trials.
Find the source article here.