Identifying the condition: Katherine Timothy


Katherine Timothy has over 35 years of dedicated service in the fields of cardiology and human molecular genetics. Her commitment to scientific and medical research is proven by her significant contributions to further knowledge and understanding, specifically regarding the long QT syndrome and Timothy Syndrome as well as other arrhythmia causing disorders. 

Timothy Syndrome was named in her honor for recognising and describing the multisystem dysfunction discovered to associate with this complex disorder.

Katherine is one of the original pioneers of LQT genetics, having developed the first remarkably large LQT family pedigree for genetic linkage studies in 1989.

Katherine’s expertise in genealogy and family pedigree expansion brought her to the attention of Dr. G. Michael Vincent and Dr. Mark Keating and into the field of cardiac medicine and human molecular genetics.

She studied and became proficient in reading and evaluating thousands of ECGs, stress tests and holtor monitor recordings, assigning clinical phenotypes and entering patients into designated genetic studies primarily for LQTS studies.

Among the many hundreds of LQT families which were referred to and characterised by Katherine, there was a very small subset of infants who had extremely prolonged QT intervals, which always presented at birth with syndactyly or conjoined fingers and toes.

The DNA of these children was collected and entered into every possible genetic study for almost 20 years. In 2004, the discovery was finally made and the findings published.

Each child shared an identical genetic change in the L-type Calcium Channel gene, CACNA1C. This condition came to be known as Timothy Syndrome.

The CACNA1C gene was known to expresses in almost all tissues of the body, so it now became Katherine’s responsibility to evaluate each living child to verify the multisystem problems.

As the years have passed and genetic testing has become more available, diagnosing children with multisystem health concerns is now often identified to associate with additional CACNA1C genetic changes. These new genetically diagnosed children are now classified as having an atypical form of the Timothy Syndrome disorder.  

Over the last 15 years of continued genetic testing, Katherine has personally communicated with the parents of most of these children, and continues to include them in her ongoing studies.

She continues to work with other medical and scientific investigators to better understand the condition and to improve the treatment and care for all children diagnosed with Timothy Syndrome.

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