Ex­plor­ing Hu­man Genome

Be­laru­sian and Rus­sian sci­en­tists in­tend to de­velop new tech­nolo­gies to study hu­man DNA

Economy of Belarus - - FRONT PAGE - Irina KONTSAVENKO

Ge­netic tech­nol­ogy and hu­man genome re­search have ad­vanced rapidly. It is clear that genes lie at the heart of who we are and what we are, and there­fore the in­ter­est in this area will con­tinue grow­ing. The role of ge­net­ics in medicine is un­de­ni­able to­day. It is an es­tab­lished fact now that all dis­eases (in­clud­ing in­fec­tious dis­eases, colds and even in­juries) have a hered­i­tary ba­sis. Ge­net­ics makes its con­tri­bu­tion to the de­vel­op­ment of foren­sic science. By us­ing the PCR test it is now pos­si­ble to iden­tify an in­di­vid­ual from the DNA traces. Be­laru­sian and Rus­sian sci­en­tists have rich ex­pe­ri­ence in ex­plor­ing the hu­man genome. More than two years ago, when dis­cussing the ways of fur­ther de­vel­op­ment of the do­mes­tic science, they had the idea to de­velop the Be­larus-Rus­sia Union State DNA Iden­ti­fi­ca­tion Pro­gram which would help solve crimes and treat dis­eases. To­day the min­istries of the two coun­tries con­cerned are fi­nal­iz­ing the pro­gram which is ex­pected to be launched early next year. In ad­di­tion to the core aca­demic in­sti­tu­tions (Rus­sia’s Fed­eral Agency for Sci­en­tific Or­ga­ni­za­tions and Be­larus’ Na­tional Academy of Sciences), it will in­volve the in­ves­ti­ga­tion com­mit­tees of Be­larus and Rus­sia and also med­i­cal in­sti­tu­tions. Ex­perts be­lieve that ge­netic sci­en­tists and peo­ple on the ground know how to help each other and ob­tain a new promis­ing prod­uct. us­ing bi­o­log­i­cal sam­ples col­lected at a crime scene is quite ac­cu­rate to­day, some­times there are a lot of prob­lems. This means ge­netic meth­ods should be im­proved. Cer­tain progress in the area has been made by Rus­sian foren­sic sci­en­tists. This suc­cess gave rise to the joint Union State pro­gram. For in­stance, DNA tests were con­ducted to in­ves­ti­gate the ter­ror­ist at­tack in Do­mode­dovo Air­port in 2011. Two days were needed to iden­tify the sui­cide bomber, which, in turn, helped find his ac­com­plices. In this very case in­ves­ti­ga­tors were lucky as the ter­ror­ist was from the re­gion that had al­ready been stud­ied by ge­neti­cists.

The Novosi­birsk pe­dophile case is demon­stra­tive as well. For a num­ber of years the crim­i­nal mo­lested girls in dif­fer­ent dis­tricts of the city. Eye­wit­ness ac­counts pointed to a man from North­ern Cau­ca­sus but led the in­ves­ti­ga­tion nowhere. Spe­cial­ists of the Tomsk Re­search In­sti­tute of Med­i­cal Ge­net­ics (the Siberian branch of the Rus­sian Academy of Sciences) car­ried out a de­tailed DNA pro­fil­ing of the ma­niac. The find­ings re­vealed that the crim­i­nal came from the south of Siberia. These re­sults helped con­sid­er­ably nar­row the cir­cle of sus­pects, and the child mo­lester was ar­rested two weeks later.

How­ever, to make it a rou­tine, one needs to know the history of the de­vel­op­ment of a na­tion and to have plenty of DNA sam­ples. For

Genes as Ev­i­dence

se­ries of gen­er­a­tions, and be­came wide­spread in the pop­u­la­tion. Oth­ers ap­peared later, and are found only in a small part of the pop­u­la­tion. So the closer kin­ship be­tween two peo­ple is, the more sim­i­lar their geno­types are.

The hu­man DNA pro­fil­ing tech­nol­ogy has been well-tested and is ex­ten­sively used through­out the world. It is kind of a mod­ern stan­dard, with a cer­tain set of tools, reagents and tech­niques. Foren­sic sci­en­tists be­gan us­ing the DNAtest­ing method about 30 years ago. How­ever, only five years ago we came to re­al­ize, here and abroad, that ge­net­ics could be of much big­ger help to law-en­force­ment agen­cies. Although DNA pro­fil­ing

Ap­prox­i­mately 85% of hu­man qual­i­ties are pre­de­ter­mined by genes (looks, char­ac­ter, in­tel­lec­tual and phys­i­cal abil­i­ties, health). Ac­cord­ingly, the genome of each of us con­tains a wealth of in­for­ma­tion and we need to learn to ex­tract all of it for the pur­poses that ben­e­fit the so­ci­ety.

The hu­man genome con­tains 3 bil­lion nu­cleo­tides. Any two peo­ple dif­fer at about 1 in ev­ery thou­sand DNA bases, or “letters”, or three mil­lion of the three bil­lion. This is where the in­di­vid­ual qual­i­ties of an in­di­vid­ual come from. Some nu­cleo­tide sub­sti­tu­tions ap­peared in the dis­tant past, pre­served in a

in­stance, it is easy to tell a Tar­tar from a Be­laru­sian from the ge­netic point of view. Dis­tin­guish­ing a Rus­sian from a Be­laru­sian is a dif­fer­ent story as their geno­types are very sim­i­lar. The pro­gram de­vel­op­ers will search for new ge­netic mark­ers of strong eth­noter­ri­to­rial fea­tures, i.e. the parts of the DNA, the vari­abil­ity of which max­i­mally cor­re­lates with the eth­nic­ity and the place of ori­gin of a per­son. Once sci­en­tists know the char­ac­ter­is­tics of the pop­u­la­tion from all the re­gions or the ma­jor­ity of them, it will be pos­si­ble to tell even the de­gree of re­la­tion­ship be­tween a per­son and their fel­low cit­i­zens. Yet, no uni­ver­sal genome data­base has been de­vel­oped yet, nei­ther in Be­larus, nor in Rus­sia, or any­where else in the world.

“First of all, we need to come up with new meth­ods of iden­ti­fi­ca­tion, which will be more ad­vanced, pre­cise and, what is equally

Only five years ago we came to re­al­ize, here and abroad, that ge­net­ics could be of much big­ger help to law-en­force­ment agen­cies

im­por­tant, cheaper. These meth­ods will be used to cre­ate a databank of geno­types of var­i­ous pop­u­la­tions (DNA anal­y­sis for sci­en­tific stud­ies is vol­un­tary). The pop­u­la­tion in Rus­sia is more di­verse with re­gard to its eth­nic com­po­si­tion. Our coun­tries, how­ever, are closely in­ter­con­nected. The bor­der is regularly crossed by thou­sands of peo­ple, among whom there are per­sons who are on the po­lice wanted list. “Of course, these is­sues are equally im­por­tant for Be­larus. By the way, be­cause of the grow­ing mi­gra­tion flows from third coun­tries and the chang­ing pop­u­la­tion struc­ture ge­neti­cists have to learn to iden­tify dif­fer­ent eth­nic groups,” Doc­tor of Bi­ol­ogy, Pro­fes­sor, Head of the Hu­man Ge­net­ics Lab at the NASB In­sti­tute of Ge­net­ics and Cy­tol­ogy Irma Mosse said.

It is worth say­ing that cer­tain ge­netic pe­cu­liar­i­ties can be def­i­nitely linked to a small re­gion. For ex­am­ple, in­dige­nous peo­ple liv­ing in small re­mote vil­lages will have cer­tain fea­tures which will dis­tin­guish them from peo­ple liv­ing in other vil­lages. There­fore, in the fu­ture it will be pos­si­ble to iden­tify the ex­act place of birth of a crim­i­nal.

Spe­cial­ists be­lieve one can­not com­mit a crime with­out leav­ing any bi­o­log­i­cal ev­i­dence. To iden­tify a per­son it is enough to find only a few cells of his or her body. The DNA re­tains its struc­tural fea­tures for mil­len­nia, not days. The ap­pli­ca­tion of such tech­nolo­gies will re­duce the risk of ju­di­cial er­rors al­most to zero.

“Any bi­o­log­i­cal ma­te­rial, be it a hair, blood, saliva, a skin cell, sweat and grease, al­lows de­tect­ing a hu­man geno­type, i.e. de­ter­min­ing his or her gen­der, age, ap­pear­ance (physique, the color of eyes, hair, skin, etc.), med­i­cal history. Of course, this in­for­ma­tion helps nar­row down the search. Last year a DNA test helped the French po­lice catch the rob­ber of a jew­elry store who de­cided to kiss a hostage good­bye. One small kiss was enough to iden­tify a per­son. There­fore, it is very im­por­tant or even es­sen­tial to master var­i­ous meth­ods and cre­ate a ge­netic in­for­ma­tion data­base,” Irma Mosse be­lieves.

Spe­cial­ists be­lieve one can­not com­mit a crime

with­out leav­ing any bi­o­log­i­cal ev­i­dence

By the way, nowa­days Western ex­perts are de­vel­op­ing foren­sic DNA data­bases that help in­ves­ti­gate a crime in the lab. Sta­tis­tics show that the UK po­lice an­nu­ally solve about 40,000 crimes with the help of DNA tests. If the ge­netic pro­file from a crime scene matches the pro­file from the data­base, the crim­i­nal will be iden­ti­fied im­me­di­ately.

Apart from iden­ti­fi­ca­tion of crim­i­nals, the tech­nolo­gies de­vel­oped within the frame­work of the pro­gram will be used for es­tab­lish­ing the iden­tity of per­sons with mem­ory loss and vic­tims of homi­cides, dis­as­ters, and war crimes. One of the most fa­mous DNA tests was car­ried out on the re­mains of the last Rus­sian Tsar Ni­cholas II and his fam­ily.

Treat­ing Peo­ple, not Dis­eases

The sec­ond part of the Union State pro­gram called Health and Life Qual­ity is ded­i­cated to ge­netic re­search. To­day ge­netic test­ing re­ceives a lot of at­ten­tion due to its great prac­ti­cal ap­pli­ca­tion prospects in medicine. At present, the con­cept of per­son­al­ized medicine is gain­ing trac­tion around the world. Per­son­al­ized medicine means tai­lored med­i­cal treat­ment based on the per­son’s ge­netic makeup. Some­times it hap­pens that one and the same medicine works for one pa­tient but has no ef­fect on the health of another or even ex­ac­er­bates his or her con­di­tion. Spe­cial­ists ex­plain that re­spon­sive­ness to drugs de­pends on meta­bolic genes. A medicine can quickly travel through the hu­man body and pro­duce no im­prove­ment. Or even worse, it may fail to dis­solve and cause neg­a­tive ef­fects. By the way, to­day all hep­ati­tis C pa­tients are re­quired to un­dergo ge­netic test­ing. Ideally, treat­ment of many dis­eases should be pre­ceded by ge­netic typ­ing.

Other rapidly evolv­ing fields of medicine in­clude pre­dic­tive, pre­ven­tive, and par­tic­i­pa­tory medicine. These fields rep­re­sent four di­men­sions of the so-called P4 medicine. Spe­cial­ists be­lieve that proac­tive P4 medicine is the medicine of the fu­ture.

“Pre­dic­tive medicine is a clin­i­cal dis­ci­pline de­signed to pre­dict the prob­a­bil­ity of dis­eases through the use of DNA anal­y­sis. If, for ex­am­ple, one is ge­net­i­cally prone to di­a­betes, they change their nu­tri­tional be­hav­ior (re­duce car­bo­hy­drate in­take) thereby pre­vent­ing the dis­ease. In case of prone­ness to os­teo­poro­sis, peo­ple go on a milk diet with cal­cium sup­ple­ments. As for car­dio­vas­cu­lar dis­eases, the pa­tient gives up smok­ing, keeps his/her weight down, and starts do­ing phys­i­cal ex­er­cises. Pre­ven­tive medicine, in turn, re­lies on an­tic­i­pa­tory ac­tions. The lifestyle de­ter­mines whether a pre­dis­posed per­son will ac­tu­ally de­velop the dis­ease. Fi­nally, par­tic­i­pa­tory medicine em­pha­sizes the ac­tive role of the pa­tient. For ex­am­ple, we can buy a glu­cose me­ter and mea­sure the amount of glu­cose in our blood,” Irma Mosse ex­plained.

DNA tests of­fered by the In­sti­tute of Ge­net­ics and Cy­tol­ogy of the Na­tional Academy of Sciences of Be­larus have al­ready helped many Be­laru­sian women suf­fer­ing from mis­car­riages. Dur­ing preg­nancy women ex­pe­ri­ence an in­creased de­vel­op­ment of blood clots and those of them who have a ge­netic pre­dis­po­si­tion of­ten de­velop mi­cro­clots in pla­centa. This pre­vents a fe­tus from re­ceiv­ing ad­e­quate amount of oxy­gen and nu­tri­ents which leads to a missed abor­tion or mis­car­riage. When a DNA test iden­ti­fies the risk, doc­tors pre­scribe a preg­nant woman a cor­re­spond­ing treat­ment for blood thin­ning (with spe­cially cal­cu­lated dosage). By the way, to­day dur­ing the test each gene is ex­am­ined sep­a­rately which is long and ex­pen­sive. Un­der the Union State pro­gram a chip is planned to be de­vel­oped that will al­low ex­am­in­ing all the nec­es­sary genes at once.

Another as­pect of the fu­ture joint re­search pro­ject is psy­choe­mo­tional state of a per­son, in par­tic­u­lar, stress re­sis­tance. The lat­ter is very rel­e­vant for rep­re­sen­ta­tives of high-risk pro­fes­sions such as divers, res­cuers, astro­nauts, and pilots. If one of them loses con­trol over him­self it may lead to a catas­tro­phe.

It is equally im­por­tant that the pro­gram will solve the prob­lem of im­port sub­sti­tu­tion. The vast ma­jor­ity of Be­laru­sian and Rus­sian sci­en­tists have to buy costly for­eign reagents for their tests. Now the goal is to de­velop do­mes­tic reagents, in this case Rus­sian, to re­place the for­eign ones and to re­duce the cost of the ser­vices of­fered to the public. Spe­cial­ists will de­velop their own orig­i­nal reagents rather than copy the ex­ist­ing kit.

Joint ef­forts have al­ways ad­vanced the progress in reach­ing a goal. The DNA Iden­ti­fi­ca­tion Pro­gram will give Be­larus and Rus­sia cut­ting-edge tech­nolo­gies that will raise ef­fi­ciency and re­duce time of per­sonal iden­ti­fi­ca­tion pro­cesses which is cru­cial for en­sur­ing se­cu­rity of the Union State and health pro­tec­tion of its cit­i­zens.

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