Presentazione:

BIOLOGIST AND GENETIST
SC Servizio di Medicina di Laboratorio - Genetica Medica e Neurogenetica
(italian version)

 

I obtained a degree in Biological Sciences and a specialization in Medical Genetics at the University of Milan. Thereafter, I gained many years of experience in the areas of cytogenetics, cell culture, lymphocyte immortalization, and DNA and RNA analysis.

 

Research activity

I coordinated molecular genetics activities in research projects including the study of genes involved in several inherited neurodegenerative diseases, as motor neuron disease (ALS-SMA), spastic paraparesis (HSP), inherited ataxias, metabolic diseases, epilepsy and epileptic encephalopathies.

I collaborate in national and international study groups for Amyotrophic Lateral Sclerosis molecular genetics (SLAGEN Consortium, FALS Sequencing, ALS GWAS) and Epilepsy (EPI-25 Consortium, EPIGENPED).

I have also taken part as Principal Investigator or principal collaborator in research projects funded by the Ministry of Health (Grants GR-2016-02363337 and RF-2019-12370491) for the analysis of genetic mutations in genes implicated in childhood forms of epileptic encephalopathy.

I am also part of a clinical case discussing  group composed by geneticists, child neuropsychiatrists, and neurologists  focused on patients with epileptic encephalopathy.

 

Topics of interest

• Epileptic encephalopaties 
• Amiotrophic Lateral Sclerosis  (ALS)
• Molecular Genetics

 

 

Contacts

+39 02.2394.4575

email: barbara.castellotti@istituto-besta.it