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Medical Genetics - Prof. Mohammedani

Medical genetics involves the diagnosis and management of hereditary disorders. It applies genetic research to medical care by diagnosing and treating genetic disorders, as well as providing counseling. Medical genetics encompasses clinical practice, diagnostic testing, and research into genetic causes. It covers many conditions from birth defects to cancer. Subspecialties include clinical, metabolic, molecular, mitochondrial, and genetic counseling genetics. Genetic information also raises ethical, legal and social issues due to its implications for families.

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معتز محمد
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62 views12 pages

Medical Genetics - Prof. Mohammedani

Medical genetics involves the diagnosis and management of hereditary disorders. It applies genetic research to medical care by diagnosing and treating genetic disorders, as well as providing counseling. Medical genetics encompasses clinical practice, diagnostic testing, and research into genetic causes. It covers many conditions from birth defects to cancer. Subspecialties include clinical, metabolic, molecular, mitochondrial, and genetic counseling genetics. Genetic information also raises ethical, legal and social issues due to its implications for families.

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معتز محمد
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Medical genetics

Professor A. A. Mohamedani
Medical genetics
• Medical genetics is the specialty of medicine that
involves the diagnosis and management of hereditary
disorders.
• Medical genetics di ers from human genetics in that
human genetics is a field of scientific research that may
or may not apply to medicine, but 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 counseling of individuals
with genetic disorders would be considered part of
medical genetics.
Medical genetics
• In contrast, the study of typically non-
medical phenotypes such as the genetics
of eye color would be considered part of
human genetics, but not necessarily
relevant to medical genetics
• Genetic medicine is a newer term for
medical genetics and incorporates areas
such as gene therapy, personalized
medicine, and the rapidly emerging new
medical specialty, predictive medicine.
Scope of medical genetics
• Encompasses many di erent areas, including
clinical practice of physicians, genetic counselors,
and nutritionists, clinical diagnostic laboratory
activities, and research into the causes and
inheritance of genetic disorders.
• Examples of conditions that fall within the scope
of medical genetics include birth defects and
dysmorphology, mental retardation, autism, and
mitochondrial disorders, skeletal dysplasia,
connective tissue disorders, cancer genetics,
teratogens, and prenatal diagnosis.
Scope of medical genetics
• Medical genetics is increasingly becoming
relevant to many common diseases.
• Overlaps with other medical specialties are
beginning to emerge, as recent advances in
genetics are revealing etiologies for
neurologic, endocrine, cardiovascular,
pulmonary, ophthalmologic, renal,
psychiatric, and dermatologic conditions
Subspecialties
• In some ways, many of the individual fields
within medical genetics are hybrids
between clinical care and research.
• This is due in part to recent advances in
science and technology (for example, the
Human genome project) that have
enabled an unprecedented understanding
of genetic disorders.
Clinical genetics
• Clinical genetics is the practice of clinical medicine
with particular attention to hereditary disorders.
• Referrals are made to genetics clinics for a variety
of reasons, including birth defects, developmental
delay, autism, epilepsy, short stature, and many
others.
• Examples of genetic syndromes that are
commonly seen in the genetics clinic include
chromosomal rearrangements, Down syndrome,
DiGeorge syndrome (22q11.2 Deletion Syndrome),
Fragile X syndrome, Marfan syndrome,
Neurofibromatosis, Turner syndrome, and Williams
syndrome.
Metabolic/biochemical genetics
• Metabolic (or biochemical) genetics involves
the diagnosis and management of inborn
errors of metabolism in which patients have
enzymatic deficiencies that perturb
biochemical pathways involved in metabolism
of carbohydrates, aminoacids and lipids.
• Examples of metabolic disorders include:
galactosaemia, glycogen storage disease,
lysosomal storage disorders, metabolic
acidosis, phenylketonuria, and urea cycle
disorders
Molecular genetics
• Molecular genetics involves the discovery of and
laboratory testing for DNA mutations that underlie
many single gene disorders.
• Examples of single gene disorders include
achondroplasia, cystic fibrosis, Duchenne muscular
dystrophy, hereditary breast cancer (BRCA1/2),
Huntington disease, Marfan syndrome, Noonan
syndrome, and Rett syndrome.
• Molecular tests are also used in the diagnosis of
syndromes involving epigenetic abnormalities, such
as Angelman syndrome, Beckwith-Wiedemann
syndrome, Prader-willi syndrome, and uniparental
disomy.
Mitochondrial genetics
• Mitochondrial genetics concerns the
diagnosis and management of
mitochondrial disorders, which have a
molecular basis but often result in
biochemical abnormalities due to deficient
energy production.
• There exists some overlap between
medical genetic diagnostic laboratories and
molecular pathology.
Genetic Counseling
• Genetic counseling is the process of providing
information about genetic conditions,
diagnostic testing, and risks in other family
members, within the framework of
nondirective counseling.
• Genetic counselors are non-physician members
of the medical genetics team who specialize in
family risk assessment and counseling of
patients regarding genetic disorders.
• The precise role of the genetic counselor varies
somewhat depending on the disorder.
Ethical, legal and social implications
• Genetic information provides a unique type
of knowledge about an individual and
his/her family, fundamentally di erent from
a typically laboratory test that provides
a "snapshot" of an individual's health status.
• The unique status of genetic information
and inherited disease has a number of
ramifications with regard to ethical, legal,
and societal concerns.

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