by Leslie B. Raschka M.D., Associate Professor (retired), Department of Psychiatry, University of Toronto
Purpose: To assess the role of paternal age in the origin of genetic illness in future generations.
Data Sources: All reference data originated in English language international scientific literature and findings of original research conducted by myself.
Study Selection: Original articles published between 1938 and 1998 were selected according to the stated purpose. One article was written by myself.
Data Extraction: The present paper deals with 4 subtopics: andrology, genetics, pathology, and psychiatry.
Results: Nine articles reporting on 1399 patients described the deterioration of the quality of semen related to ageing. Five articles reported an increased mutation rate in the male germ cells as compared to the female germ cell. Twenty-four articles reported on 1230 patients and related studies described paternal age effect on increased mutation rate causing genetic illness. Eight articles reporting on 10,347 patients described increased prevalence of mental illness as related to older paternal age.
Conclusions: The age of the father is an important determinant of the health of future generations. Children conceived by fathers older than 36 years of age are at increased risk for genetic illness due to recent mutation in the male germ cell.
3 The genetic illness of a child could originate in a mutation related to the age of the father or to a mutation in the spermatogenesis caused by ageing in previous generations. The ageing process in the male is an important, probably the most important, cause of genetic illness in human populations.
4 Demographic changes taking place in the 20th Century have directed attention to all possible determinants of the health of future generations. The relationship between maternal age and Down Syndrome is a currently recognized scientific fact. The study of the reproductive efficiency of the male is also relevant to the health of future generations. Most children are born healthy regardless of paternal age; however, the age of the father is a determinant of ill health for a significant minority in future generations.
5 Andrology
Ageing in the male is expressed in a progressive decline both in the quality and quantity of the sperm (1). Changes include a decrease in motility (2), decreased vitality and an increased percentage of malformed sperm (3, 4, 5, 6, 7). The deterioration associated with ageing can be noticed first in men between the ages of 35 to 40 years (8, 9).
6 Genetics
The mutation rate is higher in the male than in the female germ cell (10, 11, 12, 13, 14). While the ageing male germ cell is especially sensitive to mutation (15) there is a significant difference in mutation, rates among different genes. There is evidence that mutation frequencies for a number of different genes causing illness increase with advancing paternal age. The rate of increase differs among different genes (16); not all genes are subject to the paternal age effect. Almost all new mutations were reported to occur in the male germ cell; however, paternal age effect is not equally pronounced in all mutations (12). It is operant in recent germline mutations. Inherited illnesses such as hemophilia A have their origins in mutations in earlier generations where, for example, increased maternal grandparental age was found and new germline mutation related to increased paternal age transmitted to future generations can result in hereditary illness. In the development of illness, more than one gene can be involved. The phenotypic expression can be influenced by modifying genes. The importance of mutations for the health of future generations was born out by the Bulletin of the World Health Organization 1986 (17), which states that about 1% of children will be born with a serious genetic disease and another 1% will develop a serious genetic illness later in life.
7 Pathology
The relationship between increased paternal age and pathological conditions of known genetic origin was reported for achondroplasia in nineteen publications (15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34); for Apert Syndrome in sixteen publications (15, 19, 20, 22, 23, 24, 25, 26, 27, 28, 30, 31, 32, 33, 34, 35); on Marfan Syndrome in thirteen publications (15, 20, 21, 22, 23, 25, 26, 27, 30, 31, 32, 33, 34); on osteogenesis imperfecta in five publications (16, 19, 24, 25, 29); on basal cell naevus syndrome in three publications (22, 26, 32); in Waardenburg Syndrome in five publications (22, 26, 31, 32, 33); on Crouzon Syndrome in seven publications (22, 26, 28, 31, 32, 33, 35); on oculo-denta; digital syndrome in four publications (22, 26, 31, 32); on thanatophoric dysplasia in three publications (28, 29, 35); on Pfeiffer Syndrome in three publications (28, 32, 35); on tuberous sclerosis in three publications (31, 33, 36); on multiple endocrine neoplasm in three publications (32, 34, 37); on myositis ossificans in nine publications (15, 19, 21, 22, 24, 30, 31, 32, 33); and on Treacher Collins disease, four publications (22, 26, 31, 33). All of these illnesses are transmitted in an autosomal dominant fashion. Increased risk for X-linked conditions associated with increased maternal grand-parental age is known to exist regarding classical hemophilia and was reported in nine publications (15, 17, 23, 25, 26 31, 32, 34, 38). This is also true for Lesch-Nyhan syndrome, reported in five publications (10, 17, 27, 31, 38). The mutation is transmitted to the child through carrier mothers.
8 Psychiatry
Mutations occurring in the course of gametogenesis in the male and the association of psychosis was described in one article (39). Older maternal and paternal age in schizophrenia was reported in four articles (39, 40, 41, 42). My own study involving 574 patients has shown that the increased age of the father is a causative factor in a sub-group of the schizophrenic population (43). Two other articles, reporting on 662 and 8000 patients respectively, confirmed my conclusions, as well as indicating that increased maternal age was secondary to increased paternal age (41, 42). Three articles reporting on 1081 patients described increased paternal age in Alzheimer’s disease (44, 45, 46).
9 Discussion
All genetic illnesses have their origin in a distant or recent mutation. Paternal age is an important determinant of mutation frequency in new germ cell mutation, causing both autosomal dominant and X-linked recessive illnesses. The role of other mutagenic factors is not the subject of this study. The results of my own research are supported by other information which indicates that the leading cause of genetic illness present in human populations is the ageing process in the male. Conceiving children by men younger than 35 years of age would prevent many genetic illnesses in future generations.
10 Bibliography
Johnson L, Nguyen H B, Petty C S, et al. Quantification of Human Spermatogenesis: Germ Cell Degeneration during Spermatocytogenesis and Meiosis in Testes from Younger and Older Adult Men. Biol Reprod 1987; 37: 739. Nieschlag E, Lammers U, Freischem C W, et al. Reproductive Functions in Young Fathers and Grandfathers. J Clin Endocrinol Metab 1982; 55: 676. Holstein A F. Spermatid Differentiation In Man During Senescence. In. : Andre J, ed. Proceedings of the Fourth International Symposium on Spermatology; 1982 June; The Hague. Martinus Nijhoff, 1983: 15-18. Homonnai Z T, Fainman N, David M P, et al. Semen Quality and Sex Hormone Pattern of 39 Middle Aged Men. Andrologia 1982; 14(2): 164. Bacetti B, Renieri T, Selmi M G, et al. Sperm Structure and Function in 70 Year Old Humans. In: Andre J, ed. Proceedings of the Fourth International Symposium on Spermatology; 1982 June; The Hague. Martinus Nijhoff, 1983: 19-23. Spira A, Ducot B. Variations physiologiques du spermatogramme. Ann Biol Clin (Paris) 1985; 43: 55. Sternbach H. Age-Associated Testosterone Decline in Men: Clinical Issues for Psychiatry. Am J Psychiatry 1998; 155: 1310.
11
Bishop M W H. Aging and Reproduction in the Male. J Reprod Fert 1970; (Suppl. 12): 65. Schwartz D, Mayaux MJ, Spira A, et al. Semen characteristics as a function of age in 833 fertile men. Fertil Steril, 1983; 39: 530. Vogel F. Editorial. A probable sex difference in some mutation rates. Am J Hum Genet, 1977; 29: 312. Haldene J B S. The Mutation Rate of the Gene for Haemophilia and it’s Segregation Ratios in Males and Females. Ann Hum Genet 1947; 13: 261. Vogel F, Motulsky AG. Human Genetics, Problems and Approaches. Berlin: Heidelberg: New York: Springer Verlag, 1979; 282. Crow J F, Denniston C. Mutation in Human Populations. In: Harris H, Hirschhorn K, eds. Advances in Human Genetics. New York: London: Plenum Press, 1985; 14: 59-123. Shimmin L C, Chang B H, Li W. Male-driven evolution of DNA sequences. Nature 1993; 362: 745. Vogel F, Rathenberg R. Spontanious Mutation in Man. In: Harris H, Hirschhorn K, eds. Advances in Human Genetics. New York: London: Plenum Press, 1975; 5: 223-318. 12
Evans HJ. Mutation as a cause of genetic disease. Phil Trans R Soc Lond 1988; 319: 325. Berg K, Bochkov N P, Coutelle C, et al. Bull WHO 1986; 64(2): 205. Penrose L S. Parental Age and Mutation. The Lancet 1955; 2: 312. Modell B, Kuliev A. Changing paternal age distribution and the human mutation rate in Europe. Hum Genet 1990; 86:198. Murdoch J L, Walker B A, Hall J G, et al. Achondroplasia-a genetic and statistical survey. Ann Hum Genet 1970; 33: 227. Rogers J G, Danks D M. Birth defects and the father. Med J Austr 1983; 2: 3. Karp L E. Older Fathers and Genetic Mutations. Am J Med Genet 1980; 7: 405. Tunte W. Human Mutations and Paternal Age. Hum Genet 1972; 16: 77. Modell B, Kuliev A. Impact of public health on human genetics. Clin Genet 1989; 36: 286.
13
Carothers A D, McAllion S J, Paterson C R. Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. J Med Genet 1986; 23: 227. Jones K L, Smith D W, Sedgwick Harvey M A, et al. Older paternal age and fresh gene mutation: Data on additional disorders. J Ped 1975; 86: 84. Hook EB. Paternal Age and Effects on Chromosomal and Specific Locus Mutations and on Other Genetic Outcomes in Offspring. In: Mastroianni L Jr, Paulsen C A, eds. Aging, Reproduction and the Climacteric. New York and London: Plenum Press, 1986: 117-145. Wilkin D J, Szabo J K, Cameron R, et. al. Mutations in Fibroblast Growth -Factor Receptor 3 in Sporadic Cases of Achendroplansia Occur Exclusively on the Paternally Derived Chromosome. Am J Hum Genet 1998; 63: 711. Orioli J M, Castilla E E, Scarano G, et. al. Effect of Paternal Age in Achondroplasia, Thanatophoric Dysplasia and Osteogenesis Imperfecta. Am J Med Genet 1995; 59: 209. Erickson D, Cohen M M Jr., A Study of parental age effects on the occurrance of fresh mutations for the Apert syndrome. Ann Hum Genet 1974; 38: 89.
14
Bordson B L, Leonardo VS. The appropriate upper age limit for semen donors: a review of the genetic effects of paternal age. Fertil Steril 1991; 56: 397. Sankaranarayanan K. Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective. Mutat Res 1998; 411: 129. Friedman J M. Genetic Disease in the Offspring of Older Fathers. Obstet Gynecol 1981; 57: 745. Carlson K M, Bracamontes J, Jackson C E, et al. Parent-of-Origin Effects in Multiple Endocrine Neoplasia Type 2B. Am J Hum Genet 1994; 55: 1076. Moloney D M, Slaney S F, Oldridge M, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48. Osborne J P, Fryer A, Webb D. Epidemiology of Tuberous Sclerosis. Ann NY Acad Sci 1991; 615: 125. Schuffenecker I, Ginet N, Goldgan D, et al. Prevalence and Parental Origin of De Novo RET Mutations in Multiple Endocrine Neoplasia Type 2A and Familial Medullary Thyroid Carcinoma. Am J Hum Genet 1997; 60: 233.
15
Crow J F. How Much Do We Know About Spontaneous Human Mutation Rates? Environ Mol Mutagen 1993; 21: 122. Crow T J. Editorial. Mutation and psychosis: A suggested explanation of seasonality of birth. Psychol Med 1987; 17: 821. Gordon A. The Incidence of Psychotic Disorders in Individuals Whose Parents Married at an Advanced Age. Med Records 1938; 148: 109. Kinnell H G. Parental Age in Schizophrenia. Br J Psychiatry 1983; 142: 204. Hare E H, Moran PAP. Raised Parental Age in Psychiatric Patients: Evidence for the Constitutional Hypothesis. Br J Psychiatry 1979; 134: 169. Raschka L B. Parental Age and Schizophrenia. Magyar Andrologia-Hungarian Andrology 1998/2; III: 47. Bertram L, Busch R, Spiegl M, et al. Paternal age is a risk factor for Alzheimer disease in the absence of a major gene.
I think the very early 30s are a fine age for fathering children for many men who do not have problems caused by a number of generations of older fathers and older maternal grandfathers. By 35 all kinds of genetic problems show up on a population level. The late 40s are when it really starts showing up in offspring . A mother with an older father can carry the genes for fragile X, hemophilia, Duchenne’s, retinoblastoma, retinitis pigmentosa and on and on.
A main funder of autism research had seven biological children and the last one a daughter is “autistic”. He is a famous hedge fund director and mathematician. His daughter was born when he was about 47 or 48 I believe, and Seung-hui Cho’s father, who was not too swift to begin with, was 38 or 39.
I commented that the subject of paternal age is complex because it is dependent on the ancestor’s paternal age. If the disorder is Alzheimer’s or prostate cancer the connection is harder to see except from the studies which have been denounced of course.
If the family already has diabetes for instance, autism/schizophrenia etc. is much more likely in offspring. The role of the definition of autism changing in 1994 is also interesting. Childhood schizophrenia, which definitely has been found to increase with paternal age, was removed as a diagnosis and autism substituted. So early schizophrenia is called autism.
MS and type 1 diabetes are very alike disorders, the work of Hans Dosch explores this and recent genomic research confirms this. Type 1 diabetes is a disorder of nerves of the pancreas etc.
HERE IS THE REASON WHY AGE OF THE FATHER MATTERS:
Some genetic loci are quite unstable and very susceptible to variations and these genetic loci involve myelin formation, the brain and nervous system. Dr. George Bartzokis, a myelin expert explained it this way:
“The issue is that the older man will have sperm that has undergone more divisions and therefore had more chances to have mutations.
The COMPLEXITY of the myelination process makes it more vulnerable to mutations. I am not talking of one specific mutation. Many things could MANIFEST in the myelination or myelin breakdown process because it is so vulnerable - something going slightly wrong will impact it while it will not impact bone growth or the heart. A good example is ApoE4 - whatever else it may affect, it manifests in the reduced capacity of myelin repair and earlier onset of AD. “
I do wonder if the paternal age history of the leaders of the NWO is older. D. Rock… is the youngest son. He seems particularly cold-blooded. Here is an excerpt from James F. Crow’s paper cited below:
“How can we account for a higher mutation rate in males than in females? The most obvious explanation lies in the much greater number of cell divisions in the male germ line than in the female germ line. In the female the germ cell divisions stop by the time of birth and meiosis is completed only when an egg matures. In the male, cell divisions are continuous and many divisions have occurred before a sperm is produced. If mutation is associated with cell division, as if mutations were replication errors, we should expect a much higher mutation rate in males than in females.
This makes the strong prediction that the mutation rate should increase with the age of the father, since the older the man, the more cell divisions have occurred. On the other hand, there should be no age effect in females.
Let me interject at this point that there is a well-known maternal age effect for traits that are caused by errors in chromosome transmission. The kind of accident that leads to a child with an extra chromosome is strongly associated with the mother's age (15). There may be a slight paternal age effect, but the far more striking effect is maternal. My concern, however, is with gene mutations which, when those with small effects are considered, are much more frequent.
I mentioned earlier Weinberg's suggestion that mutations should be associated with paternal age (1). He was unable to test the idea, and it lay dormant for many years. It is now, however, well established that a number of human inherited traits are associated with the father's age at the time of birth (or conception) of the affected child.
The procedure consisted of identifying children with dominantly inherited diseases whose parents were normal. Then, having ascertained such trios, the age of the parents was determined. In the classical literature (4), four conditions showed such an effect: achondroplasia, Apert syndrome, myositis ossificans, and Marfan syndrome. The average age of fathers at the time of birth of an affected child was 6.1 years greater than that of fathers of normal children in the same population. There was also a smaller maternal age increase, 3.8 years, mainly, if not entirely, because of the correlation of ages of husbands and wives. Maternal age and birth order showed no significant effect independent of paternal age (16).
Another test of the hypothesis is to examine the age of maternal grandfathers of males with severe X-chromosomal diseases. The fathers of five daughters heterozygous for Lesch-Nyhan disease, whose mothers were normal homozygotes, were about 7 years older than the population average; the standard error is of course very large (6).
Recently, a paternal age effect for heart defects has been reported (17). Pooling ventricular and atrial septal defects with patent ductus, the investigators found a small but significant increase in the fathers' ages. This was a case-controlled study, with smoking controlled and maternal age regressed out. About 5% of the incidence over age 35 is attributable to father's age. This suggests that a small fraction of these congenital defects is due to dominant mutations. It also suggests a strategy: examine families in which the fathers of affected children are unusually old. A linkage and molecular analysis might lead to the discovery of a gene predisposing to heart defects.
A study of birth and death records of European royal families suggests that daughters of old fathers have a slightly shortened life span (18). This is consistent with mutations on the X chromosome playing a small, but significant role in longevity. If confirmed, this will add to the evidence that mutation is one factor in aging.
Huntington disease is caused by an excess number of CAG repeats. The larger the number of repeats, the earlier the onset. Paternally derived cases have a larger increase over the parent value than maternally derived cases (19). The discrepancy may be the consequence of the greater number of cell divisions in the male germ line. Demonstrating a paternal age effect is complicated by the limitation of reproduction at older ages because of the severity of the disease.
Nonlinearity of the Paternal Age Effect
Let us now examine the number of cell divisions ancestral to a sperm produced by a father of a specified age. The necessary data are summarized by Vogel and Rathenberg (4). In the female, the number of divisions from zygote to egg is estimated to be 24. The male is more complicated. Until the age of puberty, Xp, taken to be 13 years (Xp = 13), there are 36 divisions (Np = 36). Afterward, there are 23 divisions per year (
N = 23).
Thus, the number of cell divisions prior to sperm production
in a man of age X is
At age 20 the number of cell divisions is about 200, at age 30 it is 430, and at age 45, 770.
We can use these numbers to estimate the average increase in paternal age associated with an affected child, assuming that the number of mutations is proportional to the number of cell divisions. The calculations depend on the variance of fathers' ages, which is about 50, and lead to an expected increase of 2.7 years (20, 21). Although there are uncertainties, they are not sufficient to account for the great discrepancy between the expected paternal age increase, 2.7 years, and that observed, about 6 years. Clearly, the hypothesis that the number of mutations is proportional to the number of cell divisions is out.
The data are consistent with a power function of age; the best fit involves a cubic term. A somewhat different and more sophisticated analysis by Risch et al. (22) leads to a similar conclusion. The nonlinear effect is apparent for Apert syndrome and achondroplasia in Fig. 1.
Fig.
1. Relative frequency of affected children of normal
parents (ordinate) as a function of paternal age
(abscissa). (Left) Apert syndrome, n = 111. (Center)
Achondroplasia, n = 152. (Right)
Neurofibromatosis, n = 243. From
ref. 22.
I don't find this nonlinear effect at all surprising. Everything gets worse with age, so I fully expect fidelity of replication, efficiency of editing, and error correction to deteriorate with age. For a man of age 20, the male mutation rate is about 8 times the female rate. With a linear increase, in a man at age 30, the ratio is 430/24 = 18, at age 45 it is 770/24 = 32. With nonlinearity, these ratios are much larger, some 30-fold at age 30 and as much as two orders of magnitude at age 40. Examples such as MEN2A, MEN2B, and Apert syndrome, in which a total of 92 new mutations were all paternal, are therefore not so surprising. Whatever selective forces reduced the mutation rate in our distant past, at a time when most reproduction must have been very early, were not effective for older males.
I conclude that for a number of diseases the mutation rate increases with age and at a rate much faster than linear. This suggests that the greatest mutational health hazard in the human population at present is fertile old males. If males reproduced shortly after puberty (or the equivalent result were attained by early collection of sperm and cold storage for later use) the mutation rate could be greatly reduced. (I am not advocating this. For one thing, until many more diseases are studied, the generality of the conclusion is not established. Furthermore, one does not lightly suggest such socially disruptive procedures, even if there were a well-established health benefit.) “
Dr. Maurice Auroux does not believe that cryopreservation of sperm is without risk.
Here are a small number of the papers on paternal age:
Atladóttir, H. O., Parner, E. T., Schendel, D., Dalsgaard, S., Thomsen, P. H., & Thorsen, P. (2007). Time trends in reported diagnoses of childhood neuropsychiatric disorders. Arch Pediatr Adolesc Med., 161, 193-198. Link
Brown et al. (2002): Paternal age and risk of schizophrenia in adult offspring. Am J Psychiatry, 159, 1528-1533. Link
Bray, I., Gunnell, D., & Smith, G. D. (2006). Advanced paternal age: How old is too old? Journal of Epidemiology and Community Health, 60, 851-853. Link
Burd et al., (1999). Prenatal and perinatal risk factors for autism. J. Perinatal. Med., 27, 441-450. Link
Byrne, M., Agerbo, E., Ewald, H., Easton, W. W., & Mortensen, P. D. (2003). Parental age and risk of schizophrenia, A case control study. Arch Gen Psychiatry, 60, 673-678. Link
Crow, J. F. (1997). The high spontaneous mutation rate: Is it a health risk? Proc. Natl. Acad. Sci. USA, 94, 8380-8386. Link
Dalman, C., & Allebeck, D. (2002). Paternal age and schizophrenia: Further support for an association. Am J Psychiatry, 159, 1591-1592. Link
Gillberg, C. (1980). Maternal age and infantile autism. J. Autism and Developmental Disorders, 10, 293-297. Link
Lauritsen M. B., Pedersen, C. B., & Mortensen, P. B. (2005) Effect of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J. Child Psychology and Psychiatry, 46, 963-971. Link
Miller, M. C. (2006) A new key to Autism. Aetna IntelliHealth, September 25. Link
Malaspina, D., et al. (2001): Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry, 58, 361-367. Link
Malaspina, D. (2006). In session with Dolores Malaspina, MD, MSPH: Impact of childhood trauma on psychiatric illness (interview by N. Sussman). Primary Psychiatry, 13(7), 33-36. Link
Malaspina, D. (2006). Schizophrenia risk and the paternal germ line. Schizophrenia Research Forum. Link
Rasmussen, F. (2006) Paternal age, size at birth, size in young adulthood&mdashrisk factors for schizophrenia. Eur Journal of Endocrinology, 155 Suppl 1:S65-69. Link
Reichenburg, A., Gross, R., Weiser, M. Bresnahan, M., Silverman, J. Harlap, S., et al. (2006). Advancing paternal age and autism. Arch Gen Psychiatry, 63, 1026-1032. Link
Singh, N. P., Muller, C. H., & Burger, R. E. (2003). Effects of age on DNA double-strand breaks and apoptosis in human sperm. Fertility and Sterility, 80, 1420-1430. Link
Sipos, A., Rasmussen, R., Harrison, G., Tynelius, P., Lews, G., Leon, D. A., et al. (2004). Paternal age and schizophrenia: A population based cohort study. BMJ, 329, 1070. Link
Sullivan, B. J. (2002). Research reveals a cellular basis for a male biological clock. Science Blog, 2002-11-25 22:31. Link
Tarin, J. J., Brines, J., & Cano, A. (1998). Long-term effects of delayed parenthood. Human Reproduction, 13, 2371-2376. Link
Tsuchiya, K. J., Takagai, S., Kawai, M., Matsumoto, H., Nakamura, K., Minabe, Y., et al. (2005). Advanced paternal age associated with an elevated risk for schizophrenia in offspring in a Japanese population. Schizophrenia Research, 76, 337-342. Link
Wohl, M. & Gorwood, P. (2006). Paternal ages below or above 35 are associated with a different risk for schizophrenia in offspring. Eur. Psychiatry, Dec 1 [Epub ahead of print]. Link
Zammit, S., Allebeck, P., Dalman, C., Lundgerg, I., Hemming, T., Owen, M. J., et al. (2003). Paternal age and risk for schizophrenia. Br. J. Psychiatry, 183, 405-408. Link
New point mutations in humans are introduced through the male line," says Dolores Malaspina, MD, professor of clinical psychiatry at Columbia University and the New York State Psychiatric Institute. Furthermore, she adds, the number of mutations in sperm increases as men age.
"This has been known since the 50s," said Malaspina. "What is intriguing is why society chooses to ignore this."
This place has a major role in eugenics/genomics, Harriman, Hitler, HIV etc.
Some of the people who do not let this information out to the public are:
November 9, 2006
CSHL RAISES $2.5 MILLION AT INAUGURAL DOUBLE HELIX MEDALS EVENT & LAUNCHES $200 MILLION CAPITAL CAMPAIGN
EFFORT CITED AT INAUGURAL DOUBLE HELIX MEDALS DINNER HONORING MUHAMMAD ALI, BOB AND SUZANNE WRIGHT, PHILLIP SHARP
Presenters include Meredith Vieira, Phil Donahue, Deborah Norville, Dr. James D. Watson Dr. James Watson Cold Spring Harbor Laboratory (CSHL), the renowned institution where Nobel laureate Dr. James D. Watson gave the first public presentation of the discovery he and fellow scientist Dr. Francis Crick made of the structure of DNA, is launching a $200 million capital campaign to fortify and expand its leadership role in making groundbreaking research discoveries and developing innovative technologies to study the fundamental aspects of human health. The campaign will enable CSHL, home to seven Nobel Prize winners and recently ranked #1 in cited research in molecular biology and genetics by Science Watch, to make substantial increases in laboratory space, create endowed research centers to support innovation and growth, and provide funding to recruit talented scientists.
Bruce
Stillman, Evening Presenter "Inside Edition's" Deborah
Norville, Jim Watson, Honoree Dr. Phillip A. Sharp
The campaign was cited at CSHL's inaugural Double Helix Medals Dinner tonight at the Mandarin Oriental New York. The black-tie gala honored boxing legend and humanitarian Muhammad Ali; Bob Wright, chairman and CEO of NBC Universal, and his wife Suzanne; and Nobel laureate Dr. Phillip Sharp of MIT. The double helix refers to the unique structure of DNA molecule, which carries all of life's information. It is central to biological research, and is at the heart of the CSHL's work.
Dr. James Watson Cold Spring Harbor Laboratory (CSHL), the renowned institution where Nobel laureate Dr. James D. Watson gave the first public presentation of the discovery he and fellow scientist Dr. Francis Crick made of the structure of DNA, is launching a $200 million capital campaign to fortify and expand its leadership role in making groundbreaking research discoveries and developing innovative technologies to study the fundamental aspects of human health. The campaign will enable CSHL, home to seven Nobel Prize winners and recently ranked #1 in cited research in molecular biology and genetics by Science Watch, to make substantial increases in laboratory space, create endowed research centers to support innovation and growth, and provide funding to recruit talented scientists.
The campaign was cited at CSHL's inaugural Double Helix Medals Dinner tonight at the Mandarin Oriental New York. The black-tie gala honored boxing legend and humanitarian Muhammad Ali; Bob Wright, chairman and CEO of NBC Universal, and his wife Suzanne; and Nobel laureate Dr. Phillip Sharp of MIT. The double helix refers to the unique structure of DNA molecule, which carries all of life's information. It is central to biological research, and is at the heart of the CSHL's work.
Dinner was chaired by Jeff Zucker, CEO of NBC Universal Television Group, and his wife Caryn; Thomas Quick, retired vice chairman of Quick & Reilly/Fleet Securities, Inc., and a Trustee of CSHL; David Rubenstein, a CSHL Trustee who is co-founder and managing director of The Carlyle Group, and his wife Alice; and Roy Zuckerberg, a CSHL Trustee and senior director of Goldman Sachs.
Some $2.5 million was raised at the dinner to benefit CSHL's groundbreaking biomedical research, innovative technologies and educational initiatives seeking to understand and identify therapeutic approaches and cures for devastating diseases such as cancer, autism, schizophrenia, Alzheimer's and Parkinson's, among others.
“Cold Spring Harbor Laboratory has long been recognized for its excellence in research in the biological and biomedical sciences,” said Dr. Bruce Stillman, president. “Our $200 million capital campaign will enable us to expand our stellar research and continue to teach the next generation of scientists.” Added Dr. Watson: “Never before has biology and medicine had the capacity to move so rapidly. I excitingly look forward to keeping Cold Spring Harbor Laboratory in its long valued leadership role.”
CSHL has already raised $130 million in the silent phase of the capital campaign. It is customary for institutions to have about one-third to one-half of the campaign completed before making a public announcement.
Major capital and endowment gifts include: $20 million from New York State for campus construction; $15 million from the Starr Foundation, which will go toward cancer genetics; $10 million from the DeMatteis Family, whose name will appear on a building for human genetics research; $10 million from Donald Everett Axinn for research into cognitive disorders; and $10 million from David H. Koch for biomathematics research.
“Cold Spring Harbor Laboratory's work in determining the causes of diseases like cancer through the study of genetics is second to none,” said David H. Koch, a former trustee of the Laboratory who has been a generous supporter of biomathematics at the Laboratory. “I am proud to have my name affiliated with an institution that has made, and will continue to make, important discoveries in the treatment of genetic diseases through outstanding biomedical research.” “It gives me a great sense of pride to help Cold Spring Harbor Laboratory expand its facilities for groundbreaking research in Parkinson's, Alzheimer's, autism and schizophrenia,” said Donald Everett Axinn, who has made a contribution toward research on cognitive disorders.
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We do not know how much de novo genetic disease exists because the CDC does not keep records and does not like the subject of paternal age at all.
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects:
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, et al.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene which is greater than usually seen in the general population but below the range seen in patients with HD. These IAs are meiotically unstable and in the sporadic cases, expand to the full mutation associated with the phenotype of HD. This expansion has been shown to occur only during transmission through the male germline and is associated with advanced paternal age. These findings suggest that new mutations for HD are more frequent than prior estimates and indicate a previously unrecognized risk of inheriting HD to siblings of sporadic cases of HD and their children.
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