Dr. Marina Faerman,  Ph.D. The Kameah Fellow Tel: 972-2-6757608; Fax: 972-2-6757451 Email marinaf@pob.huji.ac.il   Personal: Born 1953. Moscow, Russia; Ph. D. 1986, Moscow State Univ.; Lect. 1994; Sen. Lect. 1998, Laboratory of Biological Anthropology and Ancient DNA.

Research Interests:

Bioanthropology of past and present populations in the Middle East with the main emphasis on population origins and disease patterns.

Ancient DNA (aDNA) analysis is a novel research tool with many applications in fields ranging from genetics through emerging diseases to forensic medicine. aDNA techniques provide a unique opportunity to retrieve genetic information about past populations unavailable by any other approach. We combine traditional anthropological methodology with that of modern molecular genetics and corroborative evidence from other fields such as epidemiology, histology, archaeology and history.
 

Research Projects:

1. History of Human Health and Disease
History of disease is an integral part of human history. Information on diseases, spectrum and incidence, in past human populations can be obtained from ancient medical manuscripts, literature and art, and directly from archaeological remains, both of humans and animals. Physical anthropologists have developed numerous techniques for diagnosing diseases in human remains and their possible causes. Among these are degenerative changes related to aging, pathological lesions resulted from infectious and genetic diseases, traumas and etc. Until recently, descriptions of individual specimens with pathological lesions have been of major emphasis in paleopathology. No attempt has been made to relate the evidence of disease to human adaptation. The methods employed for the study of paleopathology have changed from simple morphological observations to the use of X-rays, CT-scans and search of bacterial DNA. Recently ancient DNA methodologies have been applied to identify the genetic mechanisms and pathogens associated with specific skeletal lesions in prehistoric specimens and to name the agents that were responsible for numerous reported epidemics in human history. It has allowed the researchers to evaluate existing hypotheses on an early onset of these conditions in human evolution. A completely different view may be drawn now that permits a better understanding of the interaction between human populations and the environment.

Genetic diseases
Differential diagnosis of anemias in dry skeletal remains is difficult using traditional anthropological methodology. Analysis of ß-globin sequences recovered from bone specimens with pathological lesions suggestive of anemia provides direct proof of the genetic mechanism causing the disease. This approach was successfully applied to identify a ß-thalassemia mutation in an archaeological specimen with porotic hyperostosis, a condition traditionally attributed to severe anemia.

Filon, D., Faerman, M., Smith, P., Oppenheim, A. 1995. Sequence analysis reveals a beta-thalassemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel. Nature Genetics 9: 365-368 [pdf]

In another study of a recent bone sample, which represented a documented case of sickle cell anemia, ß-globin gene sequences obtained from the specimen revealed homozygosity for the sickle cell mutation, proving the authenticity of the retrieved DNA. Further investigation of mitochondrial and Y chromosome DNA polymorphic markers indicated that this sample came from a male of maternal West African (possibly Yoruban) and paternal Bantu lineages. The medical record, which became available after the DNA analyses had been completed, revealed that it belonged to a Jamaican black male. These findings are consistent with this individual being a descendent of Africans brought to Jamaica during the trans-Atlantic slave trade. This study exemplifies how a "reverse population genetics" approach can be applied to reconstruct a genetic profile from a bone specimen of an unknown individual.

Faerman, M., Nebel, A., Filon, D., Thomas, M.G., Bradman, N., Ragsdale B., Schultz, M., Oppenheim, A. 2000. From a dry bone to a genetic portrait: A case study of sickle cell anemia. American Journal of Physical Anthropology 111 (2): 153-163. [pdf]


Infectious diseases
In ancient Europe, tuberculosis was one of the most widely prevalent infectious diseases. Incidence of bone pathology in skeletal remains from medieval Lithuania suggests that 18-25% of the population suffered from the disease. We have detected the presence of Mycobacterium tuberculosis in skeletal remains from Lithuania, dated to the 15th to 17th centuries by amplifying a part of a repetitive insertion element-like sequence (IS 6110). DNA of the bacillus has been identified both in pathological and normal tissues (bones and even teeth) of the same individuals, proving hematogenous spread of bacilli. Moreover, presence of M. tuberculosis DNA has been demonstrated also in skeletal remains of individuals without specific lesions. The results indicate that a much higher percentage of individuals were infected than previously thought. Our findings open the possibility of examining the actual prevalence of tuberculosis in ancient populations from collections in which individuals are represented by single bones or teeth.

Faerman, M., Jankauskas, R., Gorski, A., Bercovier, H. & Greenblatt, C.L. 1997. Prevalence of human tuberculosis in Medieval population of Lithuania based on ancient DNA analysis. Ancient Biomolecules 1 : 205-214. [pdf]
Faerman, M., Jankauskas, R. 2000. Palaeopathological and molecular evidence of human bone tuberculosis in Iron Age Lithuania. Anthropologischen Anzeiger 58 (3): 57-62. [pdf]
 

2. Genetic discrepancy and continuity in past and present human populations
Y-chromosomal DNA variation in modern populations is being increasingly used to reconstruct their origins and past movements. Y chromosome haplotypes comprising both binary and microsatellite polymorphisms have proved to be especially powerful tools for the investigation of population substructure and, of relationships between groups that have become obscured through considerable admixture. Our recent studies have demonstrated that the Y chromosome pool of Jews is part of the genetic landscape of the region and, in particular, that Jews are closely related to populations living in the north of the Fertile Crescent. Direct analysis of DNA preserved in well-dated archaeological remains provides an independent approach to such studies. We analyzed the Y Alu polymorphic (YAP) element in DNA recovered from 11 bone specimens dated to the Neolithic period and considered to represent the indigenous population. Our findings indicate that the YAP alleles found in modern Israeli populations were already present in the region in the Neolithic Period.

Nebel, A., Filon, D., Weiss, D., Weale, M., Faerman, M., Oppenheim, A., Thomas, MG. 2000. High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews. Human Genetics 107: 630-641. [pdf]
Nebel, A., Filon, D., Hohoff, C., Faerman, M., Brinkmann, B., Oppenheim, A. 2001. Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392. European Journal of Human Genetics 9:22-26. [pdf]
Nebel, A., Filon, D., Brinkman, B., Majumder, P., Faerman, M., Oppenheim, A. 2001. The Y chromosome pool of Jews as part of the genetic landscape of the Middle East. American Journal of Human Genetics 69(5):1095-112. [pdf]
Nebel A, Landau-Tasseron E, Filon D, Oppenheim A, Faerman M. 2002. Genetic evidence for the expansion of Arabian tribes into the Southern Levant and North Africa. American Journal of Human Genetics 70(6):1594-6. [pdf]
Nebel, A., Filon, D., Faerman, M., Soodyall, H., Oppenhei, A. 2004. Y chromosome evidence for a founder effect in Ashkenazi Jews. European Journal of Human Genetics (in press).


3. Forensic and archaeological applications
In the past the funerary treatment accorded to infants and young children, frequently differed from that accorded to older members of the society. Parental status, birth order, or the specific cause of death (natural causes, infanticide, sacrifice) are some of the possible reasons cited for such differences. However written sources suggest that at least in later periods, gender played an important role in determining the fate of infants. Until recently there were no reliable methodology for determining the sex of infant remains in archaeological contexts, and so no possibility of directly evaluating the extent of gender differences in determining their fate or type of burial. We have demonstrated that reliable sex identification can be carried out of even fragmentary remains by means of ancient DNA (aDNA) analysis. Population structure, male and female status in past societies, and gender differences in burial practices can be studied with high accuracy. We have recently applied this method to clarify the social basis of infanticide in Late Roman - Early Byzantine Ashkelon.

Faerman, M., Filon, D., Kahila, G., Greenblatt, C., Smith, P., Oppenheim, A. 1995. Sex identification of archaeological human remains based on amplification of the X and Y amelogenin alleles. Gene 167:327-332. [pdf]
Faerman M., Kahila G., Smith P., Greenblatt C., Stager L., Filon D., Oppenheim A. 1997. DNA analysis reveals the sex of infanticide victims. Nature 385: 212-213. [pdf]
Faerman, M., Kahila Bar-Gal, G., Filon, D., Greenblatt, C.L., Stager, L., Oppenheim, A. & Smith, P. 1998. Determining the sex of infanticide victims from the Late Roman era through ancient DNA analysis. Journal of Archaeological Science 25: 861-865. [pdf]
Mays, S. & Faerman, M. 2001. Sex identification in some putative infanticide victims from Roman Britain using ancient DNA. Journal of Archaeological Science. 28: 555-559. [pdf]

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