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Joseph Daniel Schulman is a physician, medical researcher, and biomedical entrepreneur in the fields of genetic diseases and human reproduction.
Schulman was born in 1941 in Brooklyn, New York. He graduated from Harvard Medical School in 1966 and trained in pediatrics, genetics, and obstetrics & gynecology at Massachusetts General Hospital, the National Institutes of Health, and Cornell-New York Hospital Medical Center. Schulman worked at Cambridge University with Drs. Robert Geoffrey Edwards and Patrick Steptoe, contributing to the development of the first methods for successful human in-vitro fertilization (IVF). He is recognized as a pioneer and authority in the fields of fetal medicine, prenatal genetics, and IVF. [1]
In 1974, Schulman joined the staff of the National Institute of Child Health and Human Development where he headed the Section on Human Biochemical Genetics. He founded and was first Director of the Interinstitute Program in Medical Genetics, remaining at the National Institutes of Health until 1983. During this period, the major research contributions of Schulman and his associates were in the field of the inborn errors of metabolism, especially diseases of sulfur metabolism. They demonstrated that cystinosis is a lysosomal storage disease caused by hereditary absence of the transmembrane lysosomal carrier for cystine, [2] and proved that the enzyme gamma-glutamyl transpeptidase was not, contrary to current theory, required for normal transcellular amino acid transport. [3] Schulman and David Cogan of the National Eye Institute were also the first to utilize cysteamine eyedrops for treatment of the painful photophobia and ocular crystals characteristic of cystinosis, and this treatment is widely utilized today. The prevention of abnormal genital masculinization in female fetuses with congenital adrenal hyperplasia by prenatal administration of dexamethasone to the mother, first proposed and utilized by Schulman and his colleagues at NIH, has also become a widely accepted therapy. [4]
In 1984, Schulman founded the Genetics & IVF Institute, which has pioneered the development and early introduction of numerous innovative diagnoses and treatments in human genetics and infertility, and is now an international company in these fields. [5] The institute was the first in the United States to introduce transvaginal non-surgical IVF (replacing laparoscopy and now the standard method worldwide), and also to report pregnancies using ICSI (intracytoplasmic sperm injection) for the treatment of severe male infertility. The institute also was one of the first centers in the world to introduce chorionic villus sampling (CVS) as an earlier alternative to amniocentesis for prenatal diagnosis, the first to offer clinical testing for certain common mutations in the BRCA1 and BRCA2 genes, considered to be responsible for a significant fraction of hereditary breast cancers, [6] and the first to offer prenatal testing for cystic fibrosis. Schulman and associates also developed the world's first system for the use of non-disclosing preimplantation genetic testing for the prevention of Huntington disease. [7] More recently, Schulman and his colleagues have established that flow-cytometric sorting (MicroSort) of living human sperm can modify the proportion of viable X-bearing and Y-bearing sperm and that such technology can increase the proportion of girls or boys born after insemination with sorted sperm. [8] This innovation was notable for improving the ability to choose the sex of a child conceived by the above-cited methods. [9] [10] [11] [12] Decades after its introduction, fetal genetic testing is increasingly used, despite some initial hesitancy to adopt it. [13] The institute, under Schulman's direction, was responsible for starting the first modern genetics/infertility treatment center in Shanghai, China, one of the largest IVF programs in the world.
Schulman was CEO of the Genetics & IVF Institute until 1998, and remains chairman of its board of directors. He previously served as an affiliate professor at the medical schools of Virginia Commonwealth University and the University of California - San Diego.
Schulman is the author of Robert G. Edwards: A Personal Viewpoint [14] , a personal account of Nobel Laureate, Robert G. Edwards, and events relevant to the development of modern methods of assisted reproduction.
In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm in vitro. The process involves monitoring and stimulating a woman's ovulatory process, removing an ovum or ova from her ovaries and letting sperm fertilise them in a culture medium in a laboratory. After the fertilised egg (zygote) undergoes embryo culture for 2–6 days, it is transferred by catheter into the uterus, with the intention of establishing a successful pregnancy.
Intracytoplasmic sperm injection is an in vitro fertilization (IVF) procedure in which a single sperm cell is injected directly into the cytoplasm of an egg. This technique is used in order to prepare the gametes for the obtention of embryos that may be transferred to a maternal uterus. With this method, the acrosome reaction is skipped.
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species. It is the normal state of a human child or other young offspring, because they have not undergone puberty, which is the body's start of reproductive capacity.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
Gamma-glutamyltransferase is a transferase that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water. GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification. Other lines of evidence indicate that GGT can also exert a pro-oxidant role, with regulatory effects at various levels in cellular signal transduction and cellular pathophysiology. This transferase is found in many tissues, the most notable one being the liver, and has significance in medicine as a diagnostic marker.
Prenatal testing is a tool that can be used to detect some of these abnormalities at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Assisted reproductive technology (ART) includes medical procedures used primarily to address infertility. This subject involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), cryopreservation of gametes or embryos, and/or the use of fertility medication. When used to address infertility, ART may also be referred to as fertility treatment. ART mainly belongs to the field of reproductive endocrinology and infertility. Some forms of ART may be used with regard to fertile couples for genetic purpose. ART may also be used in surrogacy arrangements, although not all surrogacy arrangements involve ART. The existence of sterility will not always require ART to be the first option to consider, as there are occasions when its cause is a mild disorder that can be solved with more conventional treatments or with behaviors based on promoting health and reproductive habits.
Sir Robert Geoffrey Edwards was a British physiologist and pioneer in reproductive medicine, and in-vitro fertilisation (IVF) in particular. Along with obstetrician and gynaecologist Patrick Steptoe and nurse Jean Purdy, Edwards successfully pioneered conception through IVF, which led to the birth of Louise Brown on 25 July 1978. They founded the first IVF programme for infertile patients and trained other scientists in their techniques. Edwards was the founding editor-in-chief of Human Reproduction in 1986. In 2010, he was awarded the Nobel Prize in Physiology or Medicine "for the development of in vitro fertilization".
Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans it accounts for 40–50% of infertility. It affects approximately 7% of all men. Male infertility is commonly due to deficiencies in the semen, and semen quality is used as a surrogate measure of male fecundity. More recently, advance sperm analyses that examine intracellular sperm components are being developed.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Reproductive medicine is a branch of medicine concerning the male and female reproductive systems. It encompasses a variety of reproductive conditions, their prevention and assessment, as well as their subsequent treatment and prognosis.
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty. Intelligence is usually average, but reading difficulties and problems with speech are more common.
The Genetics & IVF Institute (GIVF) is an international provider of infertility and genetics services and products, and also engages in biomedical research in these fields. The Institute was founded in 1984 by Dr. Joseph D. Schulman and associates. GIVF headquarters are in Fairfax, VA, US, and its facilities include locations in Pennsylvania, Minnesota, California, and Texas in the United States, as well as in China, Mexico, and several other countries.
Prenatal sex discernment is the prenatal testing for discerning the sex of a fetus before birth.
Partner-assisted reproduction, reception of oocytes from partner (ROPA), reciprocal IVF,shared motherhood, partner IVF or co-IVF is a method of family building that is used by couples who both possess female reproductive organs. The method uses in vitro fertilization (IVF), a method that means eggs are removed from the ovaries, fertilized in a laboratory, and then one or more of the resulting embryos are placed in the uterus to hopefully create a pregnancy. Reciprocal IVF differs from standard IVF in that two partners are involved: the eggs are taken from one partner, and the other partner carries the pregnancy. In this way, the process is mechanically identical to IVF with egg donation. Reciprocal IVF offers the highest chance for pregnancy and a lower risk of a multiple birth. Using this process ensures that each partner is a biological parent of the child. This fertility process is one way that allows lesbian and trans male couples to reproduce and both be involved in the physical process of becoming pregnant.
Jacques Cohen is a Dutch embryologist based in New York, U.S. He is currently Director at Reprogenetics LLC, Laboratory Director at ART Institute of Washington at Walter Reed National Military Medical Center, and Scientific Director of R & D at IVF-online.
The history of in vitro fertilisation (IVF) goes back more than half a century. In 1959 the first birth in a nonhuman mammal resulting from IVF occurred, and in 1978 the world's first baby conceived by IVF was born. As medicine advanced, IVF was transformed from natural research to a stimulated clinical treatment. There have been many refinements in the IVF process, and today millions of births have occurred with the help of IVF all over the world.
Diana W. Bianchi is the director of the U.S. National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development, a post often called “the nation’s pediatrician.” She is a medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing. Bianchi had previously been the Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Gynecology at Tufts University School of Medicine and founder and executive director of the Mother Infant Research Institute at Tufts Medical Center. She also has served as Vice Chair for Research in the Department of Pediatrics at the Floating Hospital for Children at Tufts Medical Center.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
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