Joseph Daniel Schulman
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Joseph Daniel Schulman (born 1941) is an American physician, medical researcher, and biomedical entrepreneur in the fields of genetic diseases and human reproduction.


Life

Schulman was born in 1941 in
Brooklyn Brooklyn is a Boroughs of New York City, borough of New York City located at the westernmost end of Long Island in the New York (state), State of New York. Formerly an independent city, the borough is coextensive with Kings County, one of twelv ...
, New York. He graduated from Harvard Medical School in 1966 and trained in pediatrics, genetics, and obstetrics and gynecology at Massachusetts General Hospital, the National Institutes of Health, and Cornell-New York Hospital Medical Center. Schulman worked at
Cambridge University The University of Cambridge is a Public university, public collegiate university, collegiate research university in Cambridge, England. Founded in 1209, the University of Cambridge is the List of oldest universities in continuous operation, wo ...
with Drs.
Robert Geoffrey Edwards Sir Robert Geoffrey Edwards (27 September 1925 – 10 April 2013) was a British physiologist and pioneer in reproductive medicine, and in-vitro fertilisation (IVF) in particular. Along with obstetrician and gynaecologist Patrick Steptoe ...
and
Patrick Steptoe Patrick Christopher Steptoe CBE FRS (9 June 1913 – 21 March 1988) was an English obstetrician and gynaecologist and a pioneer of fertility treatment. Steptoe was responsible with biologist and physiologist Robert Edwards and the nurse and ...
, contributing to the development of the first methods for successful human
in-vitro fertilization In vitro fertilisation (IVF) is a process of fertilisation in which an egg is combined with sperm in vitro ("in glass"). The process involves monitoring and stimulating the ovulatory process, then removing an ovum or ova (egg or eggs) from t ...
(IVF). He is recognized as a pioneer and authority in the fields of fetal medicine, prenatal genetics, and IVF.


Career

In 1974, Schulman joined the staff of the
National Institute of Child Health and Human Development The ''Eunice Kennedy Shriver'' National Institute of Child Health and Human Development (NICHD) is one of the National Institutes of Health (NIH) in the United States Department of Health and Human Services. It supports and conducts research ai ...
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 Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substr ...
, especially diseases of sulfur metabolism. They demonstrated that
cystinosis Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. It is a rare autosom ...
is a
lysosomal storage disease Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other ...
caused by hereditary absence of the transmembrane lysosomal carrier for
cystine Cystine is the oxidized derivative of the amino acid cysteine and has the formula (SCH2CH(NH2)CO2H)2. It is a white solid that is poorly soluble in water. As a residue in proteins, cystine serves two functions: a site of redox reactions and a mec ...
, and proved that the
enzyme An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
gamma-glutamyl transpeptidase was not, contrary to current theory, required for normal transcellular
amino acid Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 a ...
transport. Schulman and David Cogan of the
National Eye Institute The National Eye Institute (NEI) is part of the National Institutes of Health, U.S. National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services, U.S. Department of Health and Human Services. The mi ...
were also the first to utilize
cysteamine Cysteamine is an organosulfur compound with the formula . A white, water-soluble solid, it contains both an amine and a thiol functional group. It is often used as the salt of the ammonium derivative SCH2CH2NH3sup>+, including the hydrochlo ...
eyedrops for treatment of the painful
photophobia Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence o ...
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 Congenital adrenal hyperplasia (CAH) is a group of Genetic disorder#Autosomal recessive, autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the Biosy ...
by prenatal administration of
dexamethasone Dexamethasone is a fluorinated glucocorticoid medication used to treat rheumatic problems, a number of skin diseases, severe allergies, asthma, chronic obstructive pulmonary disease (COPD), croup, brain swelling, eye pain following eye su ...
to the mother, first proposed and utilized by Schulman and his colleagues at
NIH The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
, has also become a widely accepted therapy. 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. The institute was the first in the United States to introduce transvaginal non-surgical IVF (replacing
laparoscopy Laparoscopy () is an operation performed in the abdomen or pelvis using small incisions (usually 0.5–1.5 cm) with the aid of a camera. The laparoscope aids diagnosis or therapeutic interventions with a few small cuts in the abdomen.Medli ...
and now the standard method worldwide), and also to report pregnancies using ICSI (
intracytoplasmic sperm injection Intracytoplasmic sperm injection (ICSI ) 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 embr ...
) for the treatment of severe male
infertility In biology, infertility is the inability of a male and female organism to Sexual reproduction, reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, whi ...
. The institute also was one of the first centers in the world to introduce
chorionic villus sampling Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It en ...
(CVS) as an earlier alternative to
amniocentesis Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is ...
for
prenatal diagnosis Prenatal testing is a tool that can be used to detect some birth defects 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 problem ...
, the first to offer clinical testing for certain common mutations in the
BRCA1 Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the ''BRCA1'' () gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. ''BRCA1'' is a ...
and
BRCA2 ''BRCA2'' and BRCA2 () are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associate ...
genes, considered to be responsible for a significant fraction of hereditary
breast cancer Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...
s, and the first to offer prenatal testing for
cystic fibrosis Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...
. Schulman and associates also developed the world's first system for the use of non-disclosing preimplantation
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
for the prevention of
Huntington disease Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms. The earliest sympt ...
. More recently, Schulman and his colleagues have established that flow-cytometric sorting (MicroSort) of living
human sperm A spermatozoon (; also spelled spermatozoön; : spermatozoa; ) is a motile sperm cell produced by male animals relying on internal fertilization. A spermatozoon is a moving form of the haploid cell that is the male gamete that joins with an o ...
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 Insemination is the introduction of sperm (in semen) into a female or hermaphrodite's reproductive system in order to fertilize the ovum through sexual reproduction. The sperm enters into the uterus of a mammal or the oviduct of an oviparous (eg ...
with sorted sperm. This innovation was notable for improving the ability to choose the sex of a child conceived by the above-cited methods. Decades after its introduction, fetal genetic testing is increasingly used, despite some initial hesitancy to adopt it. The institute, under Schulman's direction, was responsible for starting the first modern genetics/infertility treatment center in
Shanghai Shanghai, Shanghainese: , Standard Chinese pronunciation: is a direct-administered municipality and the most populous urban area in China. The city is located on the Chinese shoreline on the southern estuary of the Yangtze River, with the ...
,
China China, officially the People's Republic of China (PRC), is a country in East Asia. With population of China, a population exceeding 1.4 billion, it is the list of countries by population (United Nations), second-most populous country after ...
, one of the largest IVF programs in the world. Schulman was CEO of the Genetics & IVF Institute until 1998, and was chairman of its board of directors to 2024. He previously served as an affiliate professor at the medical schools of
Virginia Commonwealth University Virginia Commonwealth University (VCU) is a Public university, public research university in Richmond, Virginia, United States. VCU was founded in 1838 as the medical department of Hampden–Sydney College, becoming the Medical College of Virgin ...
and the
University of California, San Diego The University of California, San Diego (UC San Diego in communications material, formerly and colloquially UCSD) is a public university, public Land-grant university, land-grant research university in San Diego, California, United States. Es ...
. Schulman is the author of ''Robert G. Edwards: A Personal Viewpoint'', a personal account of Nobel Laureate, Robert G. Edwards, and events relevant to the development of modern methods of assisted reproduction.


References


External links


Genetics & IVF Institute
{{DEFAULTSORT:Schulman, Joseph D. American andrologists American medical researchers 1941 births Living people American geneticists Virginia Commonwealth University faculty University of California, San Diego faculty Harvard Medical School alumni Cornell University alumni Academics of the University of Cambridge