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Some rare conditions are more common in certain communities, such as the Jewish community.

Our network connects you with specialized professionals to ensure comprehensive care in these cases.

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Why discuss diseases prevalent in communities?

Some genetic conditions are more common in specific groups and can go unnoticed without specialized attention. They affect not only physical health but also emotional and family life.

Genetic conditions with higher prevalence in the jewish community

Click on each box for more information:

Familial Mediterranean Fever (FMF)

Tay-Sachs Disease

Gaucher Disease (Type 1)

Cystic Fibrosis

Canavan Disease

Familial Dysautonomia (Riley-Day Syndrome)

Bloom Syndrome

Fanconi Anemia (Type C)

Ataxia-Telangiectasia (some Sephardi/Mizrahi communities)

Amyloidosis

Mucolipidosis IV

Niemann-Pick Disease (Type A)

Beta-Thalassemia (Sephardi communities)

Wolman Disease (Mizrahi communities)

Breast and Ovarian Cancer (BRCA1/BRCA2 mutations)

Crohn’s Disease and Ulcerative Colitis

Parkinson’s Disease (genetic forms more common in Ashkenazi)

Other less common diseases included in genetic screening panels: early-onset torsion dystonia, familial hyperinsulinism, nemaline myopathy, Usher Syndrome (types 1F and III), among others

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Familial Mediterranean Fever (FMF)

What it is

Familial Mediterranean Fever is a genetic autoinflammatory disorder that causes recurrent episodes of fever and inflammation in different parts of the body, particularly the abdomen, joints, and pleura. It is more common among individuals of Mediterranean descent (such as Sephardic Jews, Arabs, Turks, and Armenians).

Main symptoms

Sudden attacks of high fever, severe abdominal pain, chest pain, and painful joints are characteristic. Episodes typically last 1 to 3 days and recur periodically.

Diagnosis

Based on clinical history, family background, and exclusion of other causes of recurrent fever. Genetic testing confirms the presence of MEFV gene mutations.

Treatment

The first-line treatment is continuous use of colchicine, which prevents attacks and kidney complications. In refractory cases, biologic agents such as anakinra or canakinumab may be prescribed to reduce inflammation. Adherence to therapy ensures good quality of life.

Prognosis

Continuous colchicine therapy is essential to prevent attacks and complications, particularly renal amyloidosis. In selected cases, biologic medications may be required.

Tay-Sachs Disease

What it is

A rare, progressive genetic disease that affects the central nervous system, leading to neuronal degeneration. It is more common among Ashkenazi Jews.

Genetic causes

Caused by deficiency of the hexosaminidase A enzyme, which removes gangliosides from nerve cells. The accumulation of these substances leads to progressive neuronal destruction.

Main symptoms

Appear between 3 and 6 months of age: loss of motor skills, weakness, blindness, seizures, and hearing loss. A cherry-red spot on the retina is characteristic.

Diagnosis

Established through enzymatic and genetic testing. Prenatal or preconception screening is recommended in at-risk families.

Treatment

There is no cure. Management is supportive: physical therapy, speech therapy, nutritional care, and neurological follow-up.

Gaucher Disease (Type 1)

What it is

A genetic disorder that affects fat metabolism, leading to the accumulation of substances in organs and bones. It is more common among Ashkenazi Jews.

Genetic causes

Caused by mutations in the GBA gene, resulting in deficiency of the enzyme glucocerebrosidase. This leads to lipid buildup in the liver, spleen, and bone marrow.

Main symptoms

Enlarged liver and spleen, anemia, fatigue, bone pain, and fractures. Some patients may also experience delayed growth.

Diagnosis

Confirmed through enzyme activity testing and genetic analysis. Imaging studies help evaluate the extent of organ involvement.

Treatment

Includes enzyme replacement therapy (regular infusions) and, in some cases, oral substrate reduction therapy. Continuous treatment is effective in improving symptoms.

Cystic Fibrosis

What it is

A genetic disease that affects glands producing mucus, sweat, and digestive enzymes, leading to thick secretions that impact the lungs and pancreas.

Genetic causes

Mutation in the CFTR gene, which regulates salt and water transport. This results in thick, hard-to-clear mucus.

Main symptoms

Chronic cough, recurrent respiratory infections, difficulty gaining weight, fatty stools, and salty sweat.

Diagnosis

Newborn screening, sweat test, and genetic analysis confirm the diagnosis.

Treatment

Includes respiratory physiotherapy, antibiotics, pancreatic enzymes, and CFTR modulators that correct the defective protein. Proper nutrition and physical exercise are essential.

Canavan Disease

What it is

A rare neurological disease that affects the brain's white matter, impairing motor and cognitive development.

Genetic causes

Mutation in the ASPA gene, causing deficiency of the enzyme aspartoacylase and accumulation of N-acetylaspartic acid.

Main symptoms

Motor development delay, muscle weakness, macrocephaly, and loss of acquired skills.

Diagnosis

Magnetic resonance imaging (MRI), amino acid analysis in cerebrospinal fluid, and genetic testing.

Treatment

There is no cure; management is supportive with physical therapy, speech therapy, and neurological follow-up.

Familial Dysautonomia (Riley-Day Syndrome)

What it is

Affects the autonomic nervous system, which controls involuntary functions such as blood pressure, digestion, and body temperature.

Genetic causes

Mutation in the IKBKAP gene, more common in Ashkenazi Jewish populations, impairing autonomic and sensory nerves.

Main symptoms

Difficulty regulating temperature, vomiting crises, absence of tears, unstable blood pressure, weakness, and reduced pain sensitivity.

Diagnosis

Clinical history, neurological examination, and confirmatory genetic testing.

Treatment

There is no cure. Management includes physical therapy, blood pressure control, proper diet, and multidisciplinary support.

Bloom Syndrome

What it is

A rare genetic disorder that causes short stature, sun sensitivity, and an increased risk of cancer.

Genetic causes

Mutation in the BLM gene, which compromises DNA stability and increases the risk of cellular mutations.

Main symptoms

Sun-sensitive skin, reddish spots, growth delay, and higher incidence of leukemias and solid tumors.

Diagnosis

Genetic and cytogenetic tests confirm chromosomal instability.

Treatment

There is no cure; focus is on cancer prevention and dermatologic care. Regular screening is essential.

Fanconi Anemia (Type C)

What it is

A genetic disease that impairs blood cell production by the bone marrow.

Genetic causes

Mutations in DNA repair genes, including FANCC.

Main symptoms

Fatigue, frequent infections, bleeding, skin spots, and physical malformations.

Diagnosis

Hematologic tests and genetic testing confirm the condition.

Treatment

Bone marrow transplantation is the most effective treatment. Supportive care includes transfusions and infection prevention.

Ataxia-Telangiectasia

What it is

A hereditary disease that causes progressive loss of motor coordination and immune system fragility.

Genetic causes

Mutation in the ATM gene, which regulates the response to DNA damage.

Main symptoms

Balance difficulties, slurred speech, recurrent respiratory infections, and dilated blood vessels in the skin and eyes.

Diagnosis

Clinical examination, immunological tests, and genetic confirmation.

Treatment

Physical therapy, immunoglobulin therapy when necessary, and neurological follow-up.

Amyloidosis

What it is

A group of diseases caused by abnormal accumulation of proteins (amyloids) in tissues and organs.

Genetic causes

It can be hereditary (TTR, APOE) or acquired. Acquired amyloidosis usually develops secondary to other medical conditions that lead to abnormal protein production, such as multiple myeloma, chronic inflammatory diseases, or aging, where the body accumulates proteins abnormally even without a genetic mutation. This acquired form often affects the heart, kidneys, and peripheral nerves.

Main symptoms

Fatigue, swelling, weight loss, neuropathy, heart failure, and kidney abnormalities.

Diagnosis

Biopsy, blood tests, and genetic testing when there is a family history.

Treatment

Medications that reduce amyloid production, targeted therapies, and liver transplantation in hereditary cases.

Mucolipidosis IV

What it is

Mucolipidosis type IV is a rare genetic disease that affects lysosomes, which are responsible for recycling substances within cells. It causes delayed neurological development and progressive visual problems.

Genetic causes

Caused by mutations in the MCOLN1 gene, which impair the function of the mucolipin-1 protein, essential for proper cellular transport and degradation.

Main symptoms

Motor and cognitive delays, hypotonia, muscle stiffness, difficulty walking, and progressive retinal degeneration.

Diagnosis

Genetic testing confirms the mutation. Detailed ophthalmologic and neurologic evaluations help track disease progression.

Treatment

There is no definitive cure. Management is supportive: physical therapy, occupational therapy, and ophthalmologic follow-up. Experimental research is investigating enzyme replacement therapies and immunobiologics as potential future strategies, but no approved clinical protocols exist.

Niemann-Pick Disease (Type A)

What it is

A rare metabolic disease that causes lipid accumulation in organs such as the liver, spleen, and brain, impairing their function.

Genetic causes

Mutations in the SMPD1 gene cause deficiency of the acid sphingomyelinase enzyme, leading to sphingomyelin accumulation in cells.

Main symptoms

Enlarged liver and spleen, delayed motor development, respiratory difficulties, loss of reflexes, and feeding problems.

Diagnosis

Enzymatic testing and genetic tests confirm the diagnosis. Imaging helps assess organ involvement.

Treatment

There is no definitive cure. Management is supportive: nutrition, physical therapy, and respiratory care. Research is exploring enzyme replacement therapies and immunobiologics (such as modulators of inflammatory response), but these are not yet available for routine clinical use.

Beta-Thalassemia (Sephardi Communities)

What it is

A hereditary disease that affects hemoglobin production, causing chronic anemia.

Genetic causes

Mutations in the HBB gene lead to insufficient or defective beta hemoglobin production.

Main symptoms

Fatigue, pallor, impaired growth, jaundice, spleen enlargement, and susceptibility to infections.

Diagnosis

Blood tests, hemoglobin electrophoresis, and genetic testing confirm the condition.

Treatment

Regular transfusions and iron chelation therapy prevent overload. In selected cases, bone marrow transplantation is an option. Recent research includes gene therapies and immunobiologics, such as modulators that stimulate fetal hemoglobin production, offering new therapeutic perspectives.

Wolman Disease (Mizrahi Communities)

What it is

A rare metabolic disease that leads to fat accumulation in the liver, spleen, and intestines, impairing multiple organs.

Genetic causes

Mutations in the LIPA gene cause deficiency of the lysosomal acid lipase enzyme, impairing lipid digestion.

Main symptoms

Vomiting, chronic diarrhea, growth failure, jaundice, severe malnutrition, and abdominal enlargement.

Diagnosis

Confirmed by enzymatic and genetic testing. Imaging shows enlargement of the liver and spleen.

Treatment

There is no definitive cure. Management is supportive: nutrition, physical therapy, and multidisciplinary follow-up. Research is exploring enzyme replacement and immunobiologics, but no therapies are yet approved.

Breast and Ovarian Cancer

What it is

A genetic mutation that increases the risk of breast and ovarian cancer.

Genetic causes

Mutations in the BRCA1 and BRCA2 genes impair DNA repair, facilitating tumor development.

Main symptoms

Cancer may be silent in early stages. Over time, lumps, breast changes, or abdominal pain may appear.

Diagnosis

Preventive genetic testing identifies carriers. Early screening with mammography, ultrasound, or MRI detects tumors.

Treatment

Includes preventive or oncologic surgeries, chemotherapy, radiotherapy, and targeted medications. PARP inhibitors and immunobiologics such as monoclonal antibodies (trastuzumab, pertuzumab) may be indicated depending on tumor subtype.

Crohn’s Disease and Ulcerative Colitis

What it is

Chronic inflammatory bowel diseases caused by dysfunction of the immune system.

Genetic causes

Several genes are associated with increased risk of developing these diseases:

•NOD2/CARD15: strongly related to Crohn’s disease, influencing immune response to intestinal bacteria. • IL23R: linked to chronic inflammation in both Crohn’s disease and ulcerative colitis.
• ATG16L1: affects cellular autophagy, increasing Crohn’s disease risk.

These genetic predispositions interact with environmental factors, such as diet, smoking, and gut microbiota, which can trigger or worsen symptoms.

Main symptoms

Persistent diarrhea, abdominal pain, fatigue, weight loss, bleeding, and, in severe cases, fistulas or extra-intestinal complications.

Diagnosis

Endoscopy, colonoscopy, imaging, and laboratory tests confirm the diagnosis. Genetic testing may identify predisposition.

Treatment

Anti-inflammatory and immunosuppressive medications. Immunobiologics such as infliximab, adalimumab, and vedolizumab help reduce inflammation and maintain remission, especially in moderate to severe cases. Nutritional and surgical follow-up is required in case of complications.

Parkinson’s Disease (Genetic Forms in Ashkenazi Population)

What it is

A neurodegenerative disease that affects motor control, which can have a genetic form in specific populations.

Genetic causes

Mutations in the LRRK2 and GBA genes increase risk by affecting dopamine production and function.

Main symptoms

Tremors, muscle rigidity, slowness of movement, postural changes, and, in advanced stages, cognitive impairment.

Diagnosis

Clinical evaluation, family history, and neurological examinations. Genetic testing identifies hereditary forms.

Treatment

Dopaminergic medications (levodopa, agonists), physical therapy, and, in some cases, surgery (deep brain stimulation). Research is exploring immunobiologics for neuroprotection, still in experimental stages.