Duchenne Muscular Dystrophy Genetic Diagnosis

7 April 2022

Thursday 7th April 2022 16:00-17:15 Paris Time

by: Alessandra Ferlini, Rita Selvatici, Francesca Gualandi and Carl Fratter

Dystrophin (DMD) gene pathogenic variations cause dystrophinopathies, a spectrum of diseases mostly involving muscle, heart and brain. The webinar will offer an overview about DMD etiopathogensis, genetics, clinical pictures, diagnostic approaches, digital technologies applied to genetic counselling and will illustrate the new genetic guidelines.

Prof Alessandra Ferlini (MD) is specialized in Medical Genetics (University of Ferrara) and Neurology (University of Bologna), and PhD in genetics (Imperial College, London). She is associate professor in medical genetics, director of the Medical Genetics Unit at the University of Ferrara (Italy), honorary visiting professor at University College of London, member of neuromuscular disease research and care networks, as TREAT-NMD Alliance, European NeuroMuscular Centre. She coordinated EU research grants on rare diseases (FINGER, BIO-NMD) and was/is full partner in other EU grants, as NMD-CHIP, SIGN, Neuromics. She is PI in innovative trials for muscular dystrophy and involved in gene discovery by omics researches. Her researches are also focused on novel nanodelivery systems for molecular therapies. She is head of the Medical Genetics Unit in Ferrara and lead the all diagnostics tasks (molecular cytogenetics, counselling), providing molecular diagnosis for more than 120 different phenotypes, including 80 genes responsible for neuromuscular diseases. She is also involved in national and local Ethical Committees.


Dr Rita Selvatici is specialized in Medical Genetics (University of Ferrara) and Clinical Lecturer of the University of Ferrara.

Name: Rita Selvatici, Place of birth: Ferrara.
Education: – 1984 University of Ferrara: graduated in Biological Science – 1991 University La Sapienza Rome: PhD in Medical Genetics – 1993 Fellowship AnnaVilla Rusconi Foundation – 1994 University La Sapienza Rome: Post graduate fellow in Medical Genetics – 1995 University of Ferrara: Specialization in Medical Genetics – 1996 to date University of Ferrara Researcher – 1996 to date University of Ferrara lecturer of Medical Genetics – 2000 to date lecturer of Medical Genetics in the Medical Genetics Specialization School – 2009 to date Assistance activity with the University Hospital of Ferrara for the diagnosis of hereditary genetic diseases.
Skills: Cell Biology, Cell Signaling, Molecular Biology, Protein Kinases, Signal Transduction, Primary Cell Culture, Cell Migration, Protein Phosphorylation, Proteins Genetics, SDS-PAGE, Western Blot Analysis, Immunoblotting, Immunoprecipitation, Molecular Cloning, RNA, Northern Blot, DNA, PCR, Multiplex Ligation-dependent Probe Amplification (MLPA), cell expression profiling by analysis on Microarrays and Real Time PCR, Sanger sequencing, Next Generation Sequencing techniques: Whole Exome, Whole Genome, Targeted sequencing and data interpretation.


Dr. Francesca Gualandi (MD, PhD), is specialized in Medical Genetics and PhD in Biotechnology. She is a Senior Consultant Geneticist, working at the Unit of Medical genetics at the University-Hospital S’Anna – Ferrara – Italy, vice-director of the Unit with role in connecting clinical and laboratory activities. She is responsible for genetic counselling service, both pre and postnatally and directly involved in Neurogenetic and Cardiogenetic clinics. She is also responsible for Telegenetics activity offering remote genetic counselling to patients affected by or with a family history of genetic disease. Dr. Gualandi is also directly involved in molecular diagnostic activity for NGS data clinical interpretation and reporting. She is author of more than 120 publications indexed in pubmed.

Carl Fratter (FRCPath) is a Consultant Clinical Scientist working in the genomic diagnosis of rare and inherited disease within the UK National Health Service in Oxford. This includes particular experience in mitochondrial disorders and dystrophinopathies. Carl collaborates closely with clinical and research colleagues in order to translate new research findings into diagnostic practice and to provide an optimal multidisciplinary service for patient care. This work has led to co-authorship on over 40 peer reviewed publications in the scientific literature. His professional roles include Chair of Molecular Genetics Specialist Advisory Group of Genomics Quality Assessment (GenQA), Member of ClinGen gene & variant curation expert panels for mitochondrial disease, and Examiner for the Royal College of Pathologists. Carl is also an Associate Lecturer at Oxford Brookes University. Carl has been a Registered Clinical Scientist since 2004 and was awarded Fellowship of the Royal College of Pathologists in 2008. Before that he obtained Masters degrees at the University of Oxford and the University of Birmingham.

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission

“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern