Medical genetics

clinical geneticsmedical geneticistgenomic medicinegenetic medicinegeneticsGenetic profilingMedicalMedical Geneticistsclinicalclinical geneticist
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.wikipedia
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Medicine

medicalmedical scienceclinical medicine
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others.

Human genetics

human geneticistgeneticsgenetic
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.
Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.

Autism

autisticautistic disorderautistic children
Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis.
Clinical genetics evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause.

Residency (medicine)

residencyresidentresidents
Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.

Genetics

geneticgeneticistgenetically
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.
Medical genetics seeks to understand how genetic variation relates to human health and disease.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

Birth defect

congenitalcongenital disorderbirth defects
Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis.

Internal medicine

internistGeneral Medicineinternists
Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.

DiGeorge syndrome

22q11.2 deletion syndromevelocardiofacial syndromevelo-cardio-facial syndrome
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.

Fragile X syndrome

Fragile Xfragile-X syndromeFragile-X
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.

Williams syndrome

Williams-Beuren syndromeWilliamsWilliam's Syndrome
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.

Marfan syndrome

Marfan's syndromeMarfanMarfanoid
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. 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.

Turner syndrome

Turner's syndrome45,Xmonosomy X
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.

Noonan syndrome

Noonan's syndromeNoonan
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.
NS can be confirmed genetically by the presence of any of the known mutations listed above.

Phenylketonuria

PKUphenylketonuria, maternalphenylketonurias
Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Peroxisomal disorder

peroxisome biogenesis disordersperoxisomal disordersperoxisome biogenesis disorder
Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Achondroplasia

achondroplasticachondrodysplasiacongenital dwarfism
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.

Aneuploidy

aneuploidaneuploidiesdisomy
Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Duchenne muscular dystrophy

DuchenneDuchenne muscular dystrophy (DMD)Duchenne's muscular dystrophy
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.

Cystic fibrosis

CFCystic fibrosis of the pancreasdisease
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.

Prader–Willi syndrome

Prader-Willi syndromePrader-WilliHypomentia
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.

Genetics in Medicine

Genetics
The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.
Genetics in Medicine is a monthly peer-reviewed medical journal covering medical genetics.

Angelman syndrome

Angelman's syndromeAngelmanAngelman syndrome (AS)
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.

Uniparental disomy

Heterodisomyuniparental isodisomydisomy
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.

American Society of Human Genetics

American Board of Medical GeneticsASHG
The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics.
The meeting features invited presentations from the world's leading geneticists, along with a variety of symposia, workshops, and other abstract-driven sessions focusing on the most important and recent developments in basic, translational, and clinical human genetics research and technology.