Megan Garlapow, PhD

Megan Garlapow, PhD, is the principal and owner of The Line Medical Communications, LLC, where she brings extensive experience in medical communications across diverse therapeutic areas. Dr Garlapow earned her BA in biology from the University of Chicago and her PhD in genetics from North Carolina State University. With a strong background in biomedical science and genetics, Dr Garlapow has held key roles in medical education and clinical genetics and genomics, where she honed her skills in developing strategic proposals, securing funding, delivering high-quality educational content, and composing engaging medical journalism pieces.

All articles by Megan Garlapow, PhD

Findings improve understanding of POLG disease variability and testing

POLG-related disease shows wide symptom variation similar to thymidine kinase 2 deficiency (TK2d), often with elevated blood biomarkers.
Researchers examine screening for TK2 genetic variants

A newly developed lab assay for TK2d struggled to consistently detect the harmful effects of known disease-causing TK2 gene variants.
Study highlights behavioral challenges in mitochondrial disorders

Neurobehavioral symptoms are common and significantly affect daily life in mitochondrial disorders, including TK2d.
Study finds sildenafil improves outcomes in severe mitochondrial disease

Sildenafil improved symptoms and reduced metabolic crises in six patients with Leigh syndrome, a mitochondrial disease related to TK2d.
Experimental drug PX578 boosts mitochondrial DNA in rare disorders

Experimental drug PX578 increased mitochondrial DNA in early laboratory studies of mitochondrial DNA depletion syndromes such as TK2d.
Public genome testing expands diagnoses for mitochondrial disease

Public genome sequencing identified a diagnosis in 20% of patients with suspected mitochondrial disease, including TK2d.
Deoxynucleoside therapy improves function in adults with TK2d

Long-term deoxynucleoside therapy improved walking ability, strength and breathing in adults with thymidine kinase 2 deficiency (TK2d).
Study estimates TK2d may affect more families than thought

Researchers estimate TK2d may affect between 0.34 and 2.82 per million pregnancies worldwide, depending on how gene variants are counted.
Study shows muscle biopsy still guides mitochondrial diagnosis

Muscle biopsy remains a valuable diagnostic tool when genetic testing does not provide clear or complete answers, including in TK2d.
Study links shorter telomeres to mitochondrial DNA depletion disorders

Patients with mitochondrial DNA depletion disorders such as TK2d had significantly shorter telomeres, especially in granulocytes.