L'Italo-Americano

L'Italo-Americano THURSDAY, MAY 19, 2022 www.italoamericano.org 4 BARBARA MINAFRA NEWS & FEATURES TOP STORIES PEOPLE EVENTS F i l l i n g i n f o r m a - t i o n a n d sequencing gaps to finally record t h e h u m a n genome in full. Prestigious journal Science aptly called such an extraordinary step forward in research - which will enable us to understand the whole functional spec- trum of our genetic patrimo- ny, opening up an immense new field of investigation – "Filling the Gaps." Thanks to this discovery, incredible a d v a n c e s c a n n o w b e achieved in fields such as that of personal genomics, or in the diagnosis of illness- es considered, up to today, impossible to recognize. It'll open the doors to the per- sonalization of medicine and medications, but also to a b e t t e r a n d f u l l e r u n d e r - standing of people's evolu- tionary and genetic history. A n i n c r e d i b l e r e s u l t , achieved by the Telomere to Telomere (T2T) associ- a t i o n , l e d b y r e s e a r c h e r s from Maryland's National Human Genome Research Institute – which is also the project's main financer – from the University of Cali- fornia Santa Cruz and from the University of Washing- ton in Seattle, where profes- sor Mario Ventura, who w a s j o i n e d b y a n I t a l i a n team from the Università di Studi di Bari, works. Since the first working draft of a human genome sequence was assembled in 2001, the scale of which was not by chance compared to the moon landing, genomics research has led to enor- mous advances in the under- standing of human biology. Nevertheless, crucial areas, accounting for some 8% of t h e h u m a n g e n o m e , h a d remained hidden from sci- entists due to the limitations o f D N A s e q u e n c i n g t e c h - nologies. " T h e s e p a r t s t h a t w e haven't been able to study for 20-plus years are impor- tant to our understanding of how the genome works, of genetic diseases, of human diversity and evolution," Karen Miga assistant pro- f e s s o r o f b i o - m o l e c u l a r e n g i n e e r i n g a t U C S a n t a Cruz said. Also, UW Medicine scien- tists were among the lead- ing contributors to the pub- l i c a t i o n o f t h e f i r s t complete, gapless sequence of the three billion bases (or ' l e t t e r s ' ) o f a h u m a n genome. The lab of Evan Eichler, p r o f e s s o r o f g e n o m e s c i - ences at the University of Washington in Seattle, was one of the major contribu- tors to the main paper "The complete sequence of the human genome." Eichler was part of the o r i g i n a l H u m a n G e n o m e Project but when the con- clusion of the first human genome sequence project was declared, after 20 years, p a r t s w e r e m i s s i n g . " W e were missing pieces of the puzzle. 95% of it was solved, but getting that last 5% was s o i m p o r t a n t b e c a u s e I believe - Eichler said - so m u c h o f w h a t w e d o n ' t understand about disease, o r w e d o n ' t u n d e r s t a n d about evolution, is dispro- portionately represented in that 5% of the genome we didn't sequence first off." The complete portrait of the human genome offers complete sequences of all 23 human chromosomes, end- t o - e n d . " F i n i s h i n g t h e sequence was like putting o n a n e w p a i r o f g l a s s e s w h e n e v e r y t h i n g l o o k e d b l u r r y , " A d a m P h i l l i p p y , one of T2T's leaders and a s e n i o r r e s e a r c h e r a t NHGRI, National Human Genome Research Institute, said. N o w w e h a v e t h e f i r s t c o m p r e h e n s i v e v i e w o f highly identical, large repeat regions, called segmental duplications, and their vari- ation in human genomes. These areas of the genome are critical to u n d e r s t a n d i n g h u m a n evolution and genetic diver- sity, as well as resistance or susceptibility to many dis- eases. Of the 20,000 genes i n t h e h u m a n g e n o m e , about 950 originate in seg- mental duplications. These segmental duplica- tions were among the last r e g i o n s o f t h e h u m a n genome assembly to be fully s e q u e n c e d , d u e t o t h e i r complexity. In this context, the con- t r i b u t i o n o f I t a l i a n researchers, all specialized i n t h e s t u d y o f c h r o m o - somes and segment duplica- tions was fundamental. "We are experts in this field and we brought our expertise to the research group: a per- fect match because in the US, they read the book, but we put the pages in the right order." Mario Ventura, 47, teach- es in the biology depart - ment at the Università di Bari Aldo Moro and in the genome science department at the University of Wash- ington, as an affiliate pro- fessor. He explains to us how genome research has an absolute value, and how it will change the "future of biology." Having the full and error- f r e e s e q u e n c i n g o f t h e human genome is key if we w a n t t o u n d e r s t a n d t h e e n t i r e e x t e n t o f g e n o m i c v a r i a b i l i t y , t h a t i s , h o w h u m a n D N A i s d i f f e r e n t from one person to another, and to identify with preci- sion all the mutations that c a u s e g e n e t i c i l l n e s s e s , including those which, until a h a n d f u l o f w e e k s a g o , w e r e i n t h e a r e a s o f o u r genome with an incomplete sequencing. U p t o n o w , V e n t u r a explains, "Human genome was like a book with many pages missing. It was full of holes. Now, it's finally com- plete. It's fully written and we can read it because all of its pages are in the right Continued to page 6 Professor Ventura's team (Photo courtesy of Mario Ventura) Italy and US together discover the secrets of the human genome

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