Tribute to Marina Frontali, 1941-2021

Marina Frontali has recently passed away. This news caught all of us, colleagues and friends, off guard. She would soon turn 80 years old and yet her mind was sharp and no signs of weariness or resignation were in her actions. She was intellectually still very active. Her involvement in the redaction of projects, teaching, writing of scientific papers, counseling and, last but not least, the support of activities for the association of patients.

I met Marina, at that time she was Prof. Frontali for me, who commanded respect (sometimes fear!) in the far 80s, when we started the collaboration between her Institute at the CNR and the Neurological Institute at our Hospital. This has led to the opening of a monthly outpatient clinic dedicated to patients and families with Huntington’s disease (HD). With the young psychologist Gioia Jacopini (Marina’s psychological alter ego) we conducted the clinic in a pioneering setting of multidisciplinary approach, aimed at bringing relief to patients, in a problem-oriented vision. I will be in debt forever for the knowledge that Marina shared in those years.

Marina was born in 1941 in Padua, graduated in Medicine in 1968. For 12 years she was Junior Researcher at the Psychology Institute of the CNR (National Research Council), Section of Comparative Psychology, but her professional life changed dramatically around the end of the seventies. She was fascinated by psychology and human behavior, and, after 10 years spent studying rodents’ behavior, she decided to shift towards a clinical setting.  The support of Luciano Terrenato, her husband and Professor of Population Genetics, was crucial in her decision to attend a genetic clinic, where she realized how relevant is the synergistic approach of genetics and psychology to support people with genetic diseases. At that time, the work of Peter Harper delineating the complexity of HD and genetic counseling for individuals at risk began to appear in the medical literature. Marina moved to Cardiff to follow at his side the epidemiological research on HD which aimed at monitoring the frequency of the disease over time to assess whether the genetic counseling program for individuals at risk had any influence on HD frequency. Marina was inspired by his research and returned to Rome keen at using this approach in the Lazio region. It is difficult to even think how hard that task was: to establish an epidemiological research on HD, a disease that was unknown to the most, neglected, and little diagnosed point by point. It was necessary to go through the archives of Hospitals in Rome to find medical records of patients diagnosed with HD, track down the family members via the last name, and contact them to set an appointment. Most families were scattered throughout the region and meetings were needed for genetic counseling and blood draw. The research was not funded, but Marina’s enthusiasm and motivation were contagious and led to involve precious, generous, enthusiastic and motivated human resources: Gioia Jacopini from the CNR Institute of Experimental Psychology, a bunch of brave and generous residents in Genetics, and the social worker Carolina Casciani. Marina described the experience of home and families visiting, often in remote villages of the countryside as “a burdensome undertaking but also for everyone an intense enriching experience, both from the professional and human point of view”. Meanwhile, the identification of the chromosomal region in which the huntingtin gene is located was refined, thereby allowing for the first time the presymptomatic and prenatal test based on linkage study. In 1982 she become genetist and moved to the Institute of Experimental Medicine (National Research Council) which became later the Institute of Neurobiology and Molecular Medicine where she served as Associated Director until retirement. Afterwards, she continued to collaborate with the Neurological and Genetic Institutes of Tor Vergata University in Rome and with the Sant’Andrea Hospital where she performed teaching and tutoring activity to residents.  Moreover, she carried out her genetic counseling service at the headquarters of the HD Families Advocacy Association AICH Rome Onlus.

Many genetists considered her a point of reference in the field, by attending her laboratory or lessons, or by following her wise advice that influenced several scientists, clinicians, and research group leaders.

In her career she authored 110 scientific papers and had several international collaborations: she led several international projects with Jim Gusella and Peter Harper for HD gene mapping and ethical and social aspects of molecular genetic prediction of late onset diseases.  Marina was linked by great esteem and friendship to Anita Harding, with whom she collaborated in projects on SCA mapping.

In addition to her research on genetic diseases from the point of view of a genetist, she focused on developing a counseling model for hereditary conditions that was comprehensive of psychological and ethical implications, with regard to the test offered to non-symptomatic individuals at genetic risk. Member of the ‘Committee for the study of Bioethics’ of the Italian National Research Council (CNR), together with Professor Stefano Rodotà, an Authority in the field of Privacy, she drafted the guidelines against the improper use of genetic data.

 

Marina was an active member of the EHDN since the very beginning and was the co-leader of the Working Group on Genetic Testing and Counselling from 2007 that lead to produce the the predictive testing guidelines.

Marina and I were Co-Principal Investigators in the Registry at Rome study site since 2004 to 2011 (at that time, the site included Gemelli Hospila, CNR, in collaboration with AICH-Roma Onlus, where the neurologists Silvia Romano and Edy Spadaro, were based). In 2012 our site splitted in two, and Marina was involved as Co-investigator at S. Andrea Hospital, where the PI was Giovanni Ristori.  She was a member of the Working Group on Ethics for Enroll-HD in 2011, and an active member of EHDN Scientific and Bioethical Committee from 2014 to 2019.
Her sense of humor and the ability to face reality in a lighthearted way went hand in hand with seriousness and conscientiousness at work as well as in private life. And she was so tough! A worrier who did not accept that any unforeseen events could interfere in her planning and her service. A few years ago, she was invited to give a lecture at our University Hospital, and different from her well-known punctuality, it was noon and she was over 30 minutes late. When she finally arrived, amid the murmur of disapproval among the audience, she said softly in the ear of a colleague: “This morning I had cataract surgery on my left eye: I just couldn’t drive because I didn’t see a damn thing since 20 min ago!”.

Marina and Luciano were a solid couple in life and work. In recent years, a neurological disease has made Luciano’s life difficult, but their strong union has allowed them to continue together to pursue their interests and passions, and to be loving grandparents for their beloved nephews. In November 2020 Luciano fell ill with Covid, which swept him away in a few weeks. Marina did not allow him to finish his days alone in a hospital room and, on December 4th, he died at home, with his hands in hers. On December 16th Marina was hospitalized for respiratory failure, and died on January 12th, leaving her sibs Nicola and Francesca sad and astonished. Francesca was struck by the tone of respect and deference of her colleagues of the Intensive Department who gave her the daily medical news. The doctor who called her to announce that Marina passed away was crying.

Marina hated the pathetic and dull strings, and I want to keep in my memory her face with a cheerful smile, almost mocking even when facing her own death, a smile from who knows that will not be forgotten.

We will miss you.

With deep friendship and love,

Anna                                                                                      Rome, January 27th, 2021

Anna Rita Bentivoglio, Neurologist

Institute of Neurology, Università Cattolica del Sacro Cuore,

Movement Disorder Unit, Fondazione Policlinico Universitario Agostino Gemelli, Roma

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